Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Pard3'

228619

Institutional Source

Beutler Lab

Gene Symbol

Pard3

Ensembl Gene

ENSMUSG00000025812

Gene Name

par-3 family cell polarity regulator

Synonyms

Par3, Pard3a, ASIP, D8Ertd580e, PAR-3

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127790643-128338767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128125085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 691 (R691Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000079777] [ENSMUST00000108752] [ENSMUST00000159537] [ENSMUST00000160272] [ENSMUST00000160581] [ENSMUST00000160766] [ENSMUST00000162531] [ENSMUST00000161355] [ENSMUST00000162176] [ENSMUST00000162456] [ENSMUST00000162536] [ENSMUST00000162602] [ENSMUST00000162907] [ENSMUST00000162309] [ENSMUST00000160717]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026921
AA Change: R691Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	1.1e-72	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART
low complexity region	771	781	N/A	INTRINSIC
PDB:4DC2\|Z	810	837	3e-10	PDB
low complexity region	863	875	N/A	INTRINSIC
low complexity region	892	902	N/A	INTRINSIC
low complexity region	921	950	N/A	INTRINSIC
low complexity region	965	1005	N/A	INTRINSIC
low complexity region	1162	1200	N/A	INTRINSIC
low complexity region	1264	1281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079777
AA Change: R556Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: R556Q

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
PDZ	147	226	2.34e-6	SMART
low complexity region	296	305	N/A	INTRINSIC
PDZ	334	413	4.1e-20	SMART
PDZ	464	549	9.87e-14	SMART
low complexity region	636	646	N/A	INTRINSIC
PDB:4DC2\|Z	675	702	2e-10	PDB
low complexity region	743	755	N/A	INTRINSIC
low complexity region	772	782	N/A	INTRINSIC
low complexity region	801	830	N/A	INTRINSIC
low complexity region	845	885	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108752
AA Change: R556Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104383
Gene: ENSMUSG00000025812
AA Change: R556Q

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
PDZ	147	226	2.34e-6	SMART
low complexity region	296	305	N/A	INTRINSIC
PDZ	334	413	4.1e-20	SMART
PDZ	464	549	9.87e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159537
AA Change: R634Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
AA Change: R634Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	6.7e-73	PFAM
PDZ	238	317	2.34e-6	SMART
low complexity region	387	396	N/A	INTRINSIC
PDZ	425	504	4.1e-20	SMART
PDZ	542	627	9.87e-14	SMART
low complexity region	717	727	N/A	INTRINSIC
PDB:4DC2\|Z	756	783	2e-10	PDB
low complexity region	823	835	N/A	INTRINSIC
low complexity region	852	862	N/A	INTRINSIC
low complexity region	881	910	N/A	INTRINSIC
low complexity region	925	943	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160272
AA Change: R691Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	1.7e-60	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART
low complexity region	771	781	N/A	INTRINSIC
PDB:4DC2\|Z	810	837	4e-10	PDB
low complexity region	878	890	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	936	965	N/A	INTRINSIC
low complexity region	980	1020	N/A	INTRINSIC
low complexity region	1177	1215	N/A	INTRINSIC
low complexity region	1279	1296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160581
AA Change: R681Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: R681Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	4	149	7.1e-73	PFAM
low complexity region	237	249	N/A	INTRINSIC
PDZ	285	364	2.34e-6	SMART
low complexity region	434	443	N/A	INTRINSIC
PDZ	472	551	4.1e-20	SMART
PDZ	589	674	9.87e-14	SMART
low complexity region	764	774	N/A	INTRINSIC
low complexity region	841	853	N/A	INTRINSIC
low complexity region	870	880	N/A	INTRINSIC
low complexity region	899	928	N/A	INTRINSIC
low complexity region	943	983	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160593

Predicted Effect

probably benign
Transcript: ENSMUST00000160766
AA Change: R634Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: R634Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	1e-72	PFAM
PDZ	238	317	2.34e-6	SMART
low complexity region	387	396	N/A	INTRINSIC
PDZ	425	504	4.1e-20	SMART
PDZ	542	627	9.87e-14	SMART
low complexity region	714	724	N/A	INTRINSIC
low complexity region	791	803	N/A	INTRINSIC
low complexity region	820	830	N/A	INTRINSIC
low complexity region	849	878	N/A	INTRINSIC
low complexity region	893	933	N/A	INTRINSIC
low complexity region	1090	1128	N/A	INTRINSIC
low complexity region	1192	1209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162531
AA Change: R678Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: R678Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	8.4e-73	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	586	671	9.87e-14	SMART
low complexity region	761	771	N/A	INTRINSIC
low complexity region	838	850	N/A	INTRINSIC
low complexity region	867	877	N/A	INTRINSIC
low complexity region	896	925	N/A	INTRINSIC
low complexity region	940	980	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161355
AA Change: R691Q

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	7.2e-73	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART
low complexity region	771	781	N/A	INTRINSIC
low complexity region	847	859	N/A	INTRINSIC
low complexity region	876	886	N/A	INTRINSIC
low complexity region	905	934	N/A	INTRINSIC
low complexity region	949	989	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162176
AA Change: R413Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123944
Gene: ENSMUSG00000025812
AA Change: R413Q

Domain	Start	End	E-Value	Type
PDZ	1	83	4.11e-2	SMART
low complexity region	153	162	N/A	INTRINSIC
PDZ	191	270	4.1e-20	SMART
PDZ	321	406	9.87e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162456
AA Change: R556Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: R556Q

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
PDZ	147	226	2.34e-6	SMART
low complexity region	296	305	N/A	INTRINSIC
PDZ	334	413	4.1e-20	SMART
PDZ	464	549	9.87e-14	SMART
low complexity region	636	646	N/A	INTRINSIC
PDB:4DC2\|Z	675	702	2e-10	PDB
low complexity region	743	755	N/A	INTRINSIC
low complexity region	772	782	N/A	INTRINSIC
low complexity region	801	830	N/A	INTRINSIC
low complexity region	845	885	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162536
AA Change: R647Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: R647Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	1e-72	PFAM
PDZ	238	317	2.34e-6	SMART
low complexity region	387	396	N/A	INTRINSIC
PDZ	425	504	4.1e-20	SMART
PDZ	555	640	9.87e-14	SMART
low complexity region	727	737	N/A	INTRINSIC
PDB:4DC2\|Z	766	793	3e-10	PDB
low complexity region	833	845	N/A	INTRINSIC
low complexity region	862	872	N/A	INTRINSIC
low complexity region	891	920	N/A	INTRINSIC
low complexity region	935	975	N/A	INTRINSIC
low complexity region	1132	1170	N/A	INTRINSIC
low complexity region	1234	1251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162602
AA Change: R691Q

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	7.6e-73	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART
low complexity region	774	784	N/A	INTRINSIC
PDB:4DC2\|Z	813	840	2e-10	PDB
low complexity region	881	893	N/A	INTRINSIC
low complexity region	910	920	N/A	INTRINSIC
low complexity region	939	968	N/A	INTRINSIC
low complexity region	983	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162907
AA Change: R691Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124319
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	4.6e-73	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162309
AA Change: R691Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: R691Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	146	6.2e-73	PFAM
low complexity region	234	246	N/A	INTRINSIC
PDZ	282	361	2.34e-6	SMART
low complexity region	431	440	N/A	INTRINSIC
PDZ	469	548	4.1e-20	SMART
PDZ	599	684	9.87e-14	SMART
low complexity region	771	781	N/A	INTRINSIC
PDB:4DC2\|Z	810	837	4e-10	PDB
low complexity region	877	889	N/A	INTRINSIC
low complexity region	906	916	N/A	INTRINSIC
low complexity region	935	964	N/A	INTRINSIC
low complexity region	979	1019	N/A	INTRINSIC
low complexity region	1176	1214	N/A	INTRINSIC
low complexity region	1278	1295	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162665
AA Change: R710Q

SMART Domains

Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: R710Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	21	166	1.4e-60	PFAM
low complexity region	254	266	N/A	INTRINSIC
PDZ	302	381	2.34e-6	SMART
low complexity region	451	460	N/A	INTRINSIC
PDZ	489	568	4.1e-20	SMART
PDZ	619	704	9.87e-14	SMART
low complexity region	791	801	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC
low complexity region	897	907	N/A	INTRINSIC
low complexity region	926	955	N/A	INTRINSIC
low complexity region	970	1010	N/A	INTRINSIC
low complexity region	1167	1205	N/A	INTRINSIC
low complexity region	1269	1286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160717
AA Change: R556Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125612
Gene: ENSMUSG00000025812
AA Change: R556Q

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
PDZ	147	226	2.34e-6	SMART
low complexity region	296	305	N/A	INTRINSIC
PDZ	334	413	4.1e-20	SMART
PDZ	464	549	9.87e-14	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000162727
AA Change: R62Q

SMART Domains

Protein: ENSMUSP00000124359
Gene: ENSMUSG00000025812
AA Change: R62Q

Domain	Start	End	E-Value	Type
Blast:PDZ	2	56	8e-30	BLAST
PDB:2KOH\|A	2	61	4e-35	PDB
SCOP:d1qaua_	4	55	3e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000161277
AA Change: R609Q

SMART Domains

Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
AA Change: R609Q

Domain	Start	End	E-Value	Type
Pfam:DUF3534	3	122	9.6e-37	PFAM
PDZ	214	293	2.34e-6	SMART
low complexity region	363	372	N/A	INTRINSIC
PDZ	401	480	4.1e-20	SMART
PDZ	518	603	9.87e-14	SMART
low complexity region	693	703	N/A	INTRINSIC
PDB:4DC2\|Z	732	759	2e-10	PDB
low complexity region	799	811	N/A	INTRINSIC
low complexity region	828	838	N/A	INTRINSIC
low complexity region	857	886	N/A	INTRINSIC
low complexity region	901	919	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,826,741 (GRCm39)	W462*	probably null	Het
Aftph	A	T	11: 20,642,571 (GRCm39)	Y821N	probably damaging	Het
Ahnak	A	T	19: 8,985,405 (GRCm39)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,614,575 (GRCm39)	F144L	probably benign	Het
Arid4b	C	T	13: 14,370,037 (GRCm39)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,039,254 (GRCm39)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,233,968 (GRCm39)	N165S	probably damaging	Het
Bod1l	A	T	5: 41,966,085 (GRCm39)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,104,155 (GRCm39)	I825T	probably damaging	Het
C4b	A	G	17: 34,955,075 (GRCm39)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,171,969 (GRCm39)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm39)	F552L	probably benign	Het
Cdh20	G	C	1: 109,976,607 (GRCm39)	A91P	probably damaging	Het
Cela1	A	G	15: 100,573,203 (GRCm39)		probably null	Het
Clk3	T	C	9: 57,658,400 (GRCm39)	Y582C	probably damaging	Het
Cma1	C	T	14: 56,181,155 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,299 (GRCm39)	S95P	probably benign	Het
Cylc1	C	A	X: 110,166,892 (GRCm39)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,791,891 (GRCm39)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,041,524 (GRCm39)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,291,693 (GRCm39)	D226A	possibly damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dlec1	A	C	9: 118,941,154 (GRCm39)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 120,317,341 (GRCm39)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,163,758 (GRCm39)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,927,130 (GRCm39)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,245 (GRCm39)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm39)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,831,248 (GRCm39)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,258,858 (GRCm39)	E9*	probably null	Het
Enpep	T	A	3: 129,074,172 (GRCm39)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,739,110 (GRCm39)	M391K	probably damaging	Het
Fanca	A	C	8: 124,001,220 (GRCm39)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,125,667 (GRCm39)	L74I	probably damaging	Het
Fchsd2	T	A	7: 100,926,624 (GRCm39)	F571L	probably benign	Het
Fhad1	T	C	4: 141,626,560 (GRCm39)	D1345G	probably benign	Het
G2e3	T	C	12: 51,419,389 (GRCm39)	F702L	probably damaging	Het
Glce	A	T	9: 61,968,228 (GRCm39)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,734,183 (GRCm39)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,481,616 (GRCm39)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,331,504 (GRCm39)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,333,834 (GRCm39)	T395M	probably benign	Het
Hdhd2	T	G	18: 77,052,738 (GRCm39)		probably null	Het
Homer2	C	T	7: 81,268,451 (GRCm39)	E70K	probably benign	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Hrh3	T	C	2: 179,743,043 (GRCm39)	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,292,849 (GRCm39)	V153A	probably benign	Het
Igf2r	A	T	17: 12,920,206 (GRCm39)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,150,970 (GRCm39)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,562,314 (GRCm39)	R699*	probably null	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Itsn2	T	G	12: 4,677,879 (GRCm39)	F79V	probably damaging	Het
Jak3	C	A	8: 72,133,358 (GRCm39)	C350*	probably null	Het
Jak3	A	T	8: 72,136,059 (GRCm39)	K620*	probably null	Het
Kcnq5	T	C	1: 21,531,821 (GRCm39)	S421G	probably benign	Het
Kdm2b	A	T	5: 123,021,428 (GRCm39)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,620,047 (GRCm39)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,661,783 (GRCm39)	T2160S	probably benign	Het
Lman1	A	T	18: 66,131,423 (GRCm39)		probably benign	Het
Lmtk3	G	A	7: 45,450,335 (GRCm39)		probably null	Het
Ltb	A	G	17: 35,414,739 (GRCm39)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,008,378 (GRCm39)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,393,712 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,875,354 (GRCm39)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,697,317 (GRCm39)	S678N	probably damaging	Het
Mon2	A	T	10: 122,831,681 (GRCm39)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,056,571 (GRCm39)	N1172S	probably benign	Het
Naa30	C	G	14: 49,410,556 (GRCm39)	S161R	possibly damaging	Het
Ncaph	T	C	2: 126,966,795 (GRCm39)	N220D	probably damaging	Het
Nell1	T	C	7: 50,210,578 (GRCm39)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,089,192 (GRCm39)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 32,408,043 (GRCm39)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j7	A	G	17: 38,234,771 (GRCm39)	T105A	probably benign	Het
Or5d39	T	C	2: 87,979,487 (GRCm39)	Y292C	probably damaging	Het
Or5g29	G	A	2: 85,421,627 (GRCm39)	V248I	possibly damaging	Het
Or5p53	C	T	7: 107,532,868 (GRCm39)	T47M	probably benign	Het
Or6ae1	T	A	7: 139,742,737 (GRCm39)	E42V	probably damaging	Het
Or7d11	A	T	9: 19,965,892 (GRCm39)	I289N	probably damaging	Het
Or7g27	A	G	9: 19,250,352 (GRCm39)	I199V	probably benign	Het
Or7g32	T	A	9: 19,408,533 (GRCm39)	V163E	possibly damaging	Het
Orc5	C	T	5: 22,721,701 (GRCm39)		probably null	Het
Pofut1	T	A	2: 153,085,580 (GRCm39)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,365,238 (GRCm39)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,877,164 (GRCm39)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Pzp	A	T	6: 128,460,673 (GRCm39)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,487,349 (GRCm39)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,542,305 (GRCm39)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 118,867,696 (GRCm39)		probably null	Het
Rsph14	A	T	10: 74,865,603 (GRCm39)	D78E	probably damaging	Het
Rtl9	A	T	X: 141,885,026 (GRCm39)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,431,690 (GRCm39)	H74L	probably damaging	Het
Rusc1	G	A	3: 88,995,155 (GRCm39)	T725I	possibly damaging	Het
Rusf1	A	G	7: 127,887,503 (GRCm39)	L176P	probably damaging	Het
Ryr2	C	T	13: 11,610,622 (GRCm39)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,784,709 (GRCm39)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,027,864 (GRCm39)	N157I	probably benign	Het
Siglece	A	G	7: 43,307,210 (GRCm39)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,032,027 (GRCm39)	T296S	probably damaging	Het
Sorbs2	A	G	8: 46,228,666 (GRCm39)	K276E	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Taar7b	T	C	10: 23,876,573 (GRCm39)	I246T	possibly damaging	Het
Taldo1	A	G	7: 140,976,067 (GRCm39)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 127,174,333 (GRCm39)		probably null	Het
Tars1	C	T	15: 11,394,459 (GRCm39)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,607,780 (GRCm39)	T5I	probably benign	Het
Tex48	T	C	4: 63,525,652 (GRCm39)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,722,736 (GRCm39)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,524,725 (GRCm39)	H243Q	probably benign	Het
Ttn	T	A	2: 76,564,638 (GRCm39)	R26754*	probably null	Het
Ttn	G	A	2: 76,727,924 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,358 (GRCm39)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,850,930 (GRCm39)	R115*	probably null	Het
Umod	T	G	7: 119,075,938 (GRCm39)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,572,938 (GRCm39)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,679,754 (GRCm39)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,610,657 (GRCm39)	D1442E	probably damaging	Het
Utp4	A	G	8: 107,625,153 (GRCm39)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,575,075 (GRCm39)	N127K	probably benign	Het
Vmn2r75	T	A	7: 85,814,372 (GRCm39)	T374S	probably benign	Het
Washc5	A	G	15: 59,222,257 (GRCm39)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,067,213 (GRCm39)		probably null	Het
Wdr89	T	C	12: 75,679,762 (GRCm39)	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,536,017 (GRCm39)	S550P	probably damaging	Het
Zfp69	T	C	4: 120,788,029 (GRCm39)	T429A	probably damaging	Het
Zfpm1	G	T	8: 123,063,331 (GRCm39)	G797C	probably benign	Het

Other mutations in Pard3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Pard3	APN	8	128,086,299 (GRCm39)	splice site	probably benign
IGL00484:Pard3	APN	8	128,098,327 (GRCm39)	missense	probably benign	0.05
IGL00674:Pard3	APN	8	128,115,159 (GRCm39)	missense	probably damaging	1.00
IGL01471:Pard3	APN	8	128,104,727 (GRCm39)	missense	probably benign	0.01
IGL01505:Pard3	APN	8	128,050,544 (GRCm39)	missense	probably damaging	1.00
IGL02252:Pard3	APN	8	128,125,237 (GRCm39)	missense	probably benign	0.09
IGL02511:Pard3	APN	8	127,888,070 (GRCm39)	splice site	probably benign
IGL02838:Pard3	APN	8	128,153,128 (GRCm39)	missense	probably damaging	0.99
IGL02948:Pard3	APN	8	128,032,975 (GRCm39)	missense	probably benign	0.00
IGL02987:Pard3	APN	8	128,115,972 (GRCm39)	missense	probably damaging	0.98
IGL03037:Pard3	APN	8	128,032,975 (GRCm39)	missense	probably benign	0.00
IGL03084:Pard3	APN	8	128,319,573 (GRCm39)	missense	probably damaging	0.96
BB001:Pard3	UTSW	8	128,137,231 (GRCm39)	missense	probably benign
BB011:Pard3	UTSW	8	128,137,231 (GRCm39)	missense	probably benign
R0025:Pard3	UTSW	8	127,888,058 (GRCm39)	missense	probably damaging	1.00
R0025:Pard3	UTSW	8	127,888,058 (GRCm39)	missense	probably damaging	1.00
R0029:Pard3	UTSW	8	128,153,239 (GRCm39)	splice site	probably benign
R0109:Pard3	UTSW	8	128,125,147 (GRCm39)	missense	probably damaging	1.00
R0309:Pard3	UTSW	8	128,103,378 (GRCm39)	splice site	probably benign
R0415:Pard3	UTSW	8	128,337,047 (GRCm39)	missense	probably damaging	1.00
R0507:Pard3	UTSW	8	128,097,967 (GRCm39)	splice site	probably benign
R1055:Pard3	UTSW	8	128,104,761 (GRCm39)	missense	probably benign	0.34
R1305:Pard3	UTSW	8	128,032,891 (GRCm39)	missense	possibly damaging	0.62
R1619:Pard3	UTSW	8	128,106,983 (GRCm39)	missense	probably benign	0.02
R1855:Pard3	UTSW	8	128,174,293 (GRCm39)	splice site	probably null
R2001:Pard3	UTSW	8	127,791,097 (GRCm39)	splice site	probably null
R2064:Pard3	UTSW	8	128,337,092 (GRCm39)	missense	probably damaging	1.00
R2113:Pard3	UTSW	8	128,115,018 (GRCm39)	missense	probably damaging	1.00
R2136:Pard3	UTSW	8	128,103,366 (GRCm39)	critical splice donor site	probably null
R2224:Pard3	UTSW	8	128,086,257 (GRCm39)	missense	probably damaging	1.00
R2252:Pard3	UTSW	8	128,337,080 (GRCm39)	missense	probably damaging	1.00
R3870:Pard3	UTSW	8	128,136,167 (GRCm39)	missense	probably damaging	1.00
R4154:Pard3	UTSW	8	128,200,877 (GRCm39)	missense	probably damaging	1.00
R4212:Pard3	UTSW	8	128,336,939 (GRCm39)	missense	probably benign	0.43
R4243:Pard3	UTSW	8	128,098,128 (GRCm39)	missense	probably benign	0.09
R4523:Pard3	UTSW	8	128,125,108 (GRCm39)	missense	probably benign	0.08
R4857:Pard3	UTSW	8	128,050,535 (GRCm39)	missense	probably damaging	0.98
R4876:Pard3	UTSW	8	128,287,950 (GRCm39)	intron	probably benign
R4877:Pard3	UTSW	8	128,115,018 (GRCm39)	missense	probably damaging	1.00
R5197:Pard3	UTSW	8	127,800,040 (GRCm39)	splice site	probably null
R5215:Pard3	UTSW	8	128,104,745 (GRCm39)	missense	probably damaging	1.00
R5279:Pard3	UTSW	8	128,186,867 (GRCm39)	critical splice donor site	probably null
R5349:Pard3	UTSW	8	128,142,224 (GRCm39)	missense	probably damaging	1.00
R5479:Pard3	UTSW	8	128,096,836 (GRCm39)	missense	probably damaging	1.00
R5514:Pard3	UTSW	8	128,153,086 (GRCm39)	missense	probably damaging	1.00
R5681:Pard3	UTSW	8	128,115,914 (GRCm39)	missense	possibly damaging	0.81
R5934:Pard3	UTSW	8	128,115,819 (GRCm39)	missense	probably damaging	1.00
R6034:Pard3	UTSW	8	127,791,077 (GRCm39)	utr 5 prime	probably benign
R6034:Pard3	UTSW	8	127,791,077 (GRCm39)	utr 5 prime	probably benign
R6187:Pard3	UTSW	8	127,800,023 (GRCm39)	missense	probably benign	0.00
R6382:Pard3	UTSW	8	128,103,264 (GRCm39)	missense	probably damaging	1.00
R6774:Pard3	UTSW	8	128,137,228 (GRCm39)	missense	probably damaging	0.98
R7130:Pard3	UTSW	8	128,142,164 (GRCm39)	missense	probably damaging	1.00
R7267:Pard3	UTSW	8	128,098,056 (GRCm39)	missense	probably damaging	0.97
R7358:Pard3	UTSW	8	128,319,573 (GRCm39)	missense	probably damaging	0.98
R7528:Pard3	UTSW	8	128,329,646 (GRCm39)	missense	probably damaging	1.00
R7537:Pard3	UTSW	8	128,337,063 (GRCm39)	missense	probably damaging	1.00
R7679:Pard3	UTSW	8	128,098,327 (GRCm39)	missense	probably benign	0.05
R7924:Pard3	UTSW	8	128,137,231 (GRCm39)	missense	probably benign
R8076:Pard3	UTSW	8	128,142,077 (GRCm39)	missense	probably damaging	1.00
R8258:Pard3	UTSW	8	128,098,021 (GRCm39)	nonsense	probably null
R8259:Pard3	UTSW	8	128,098,021 (GRCm39)	nonsense	probably null
R8345:Pard3	UTSW	8	128,050,549 (GRCm39)	missense	probably damaging	1.00
R8421:Pard3	UTSW	8	127,867,158 (GRCm39)	intron	probably benign
R8500:Pard3	UTSW	8	128,186,784 (GRCm39)	missense	probably damaging	1.00
R8742:Pard3	UTSW	8	128,050,592 (GRCm39)	missense	possibly damaging	0.85
R8918:Pard3	UTSW	8	128,098,011 (GRCm39)	missense	probably benign	0.29
R9005:Pard3	UTSW	8	128,003,647 (GRCm39)	missense	probably damaging	1.00
R9629:Pard3	UTSW	8	128,136,153 (GRCm39)	missense	possibly damaging	0.94
R9643:Pard3	UTSW	8	128,115,900 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CAGAAAGTTGGTCATTAGGCCAAG -3'
(R):5'- TAAGCCCCTCTCCATGAACG -3'

Sequencing Primer
(F):5'- TGGTCATTAGGCCAAGCTGAC -3'
(R):5'- TCTCCATGAACGAGCAGGCTAAG -3'

Posted On

2014-09-17