Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Pard3'

583660

Institutional Source

Beutler Lab

Gene Symbol

Pard3

Ensembl Gene

ENSMUSG00000025812

Gene Name

par-3 family cell polarity regulator

Synonyms

ASIP, PAR-3, Pard3a, Par3, D8Ertd580e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127063893-127612286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127610582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1271 (N1271K)

Ref Sequence

ENSEMBL: ENSMUSP00000125453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000160272] [ENSMUST00000160766] [ENSMUST00000162309] [ENSMUST00000162536]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026921
AA Change: N1256K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: N1256K

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 damaging
Transcript: ENSMUST00000160272
AA Change: N1271K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: N1271K

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 damaging
Transcript: ENSMUST00000160766
AA Change: N1184K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: N1184K

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 damaging
Transcript: ENSMUST00000162309
AA Change: N1270K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: N1270K

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

probably damaging
Transcript: ENSMUST00000162536
AA Change: N1226K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: N1226K

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

SMART Domains

Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: N1260K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Pard3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Pard3	APN	8	127359818	splice site	probably benign
IGL00484:Pard3	APN	8	127371846	missense	probably benign	0.05
IGL00674:Pard3	APN	8	127388678	missense	probably damaging	1.00
IGL01471:Pard3	APN	8	127378246	missense	probably benign	0.01
IGL01505:Pard3	APN	8	127324063	missense	probably damaging	1.00
IGL02252:Pard3	APN	8	127398756	missense	probably benign	0.09
IGL02511:Pard3	APN	8	127161320	splice site	probably benign
IGL02838:Pard3	APN	8	127426647	missense	probably damaging	0.99
IGL02948:Pard3	APN	8	127306494	missense	probably benign	0.00
IGL02987:Pard3	APN	8	127389491	missense	probably damaging	0.98
IGL03037:Pard3	APN	8	127306494	missense	probably benign	0.00
IGL03084:Pard3	APN	8	127593092	missense	probably damaging	0.96
BB001:Pard3	UTSW	8	127410750	missense	probably benign
BB011:Pard3	UTSW	8	127410750	missense	probably benign
R0025:Pard3	UTSW	8	127161308	missense	probably damaging	1.00
R0025:Pard3	UTSW	8	127161308	missense	probably damaging	1.00
R0029:Pard3	UTSW	8	127426758	splice site	probably benign
R0109:Pard3	UTSW	8	127398666	missense	probably damaging	1.00
R0309:Pard3	UTSW	8	127376897	splice site	probably benign
R0415:Pard3	UTSW	8	127610566	missense	probably damaging	1.00
R0507:Pard3	UTSW	8	127371486	splice site	probably benign
R1055:Pard3	UTSW	8	127378280	missense	probably benign	0.34
R1305:Pard3	UTSW	8	127306410	missense	possibly damaging	0.62
R1619:Pard3	UTSW	8	127380502	missense	probably benign	0.02
R1855:Pard3	UTSW	8	127447812	splice site	probably null
R2001:Pard3	UTSW	8	127064347	splice site	probably null
R2060:Pard3	UTSW	8	127398604	missense	probably benign	0.05
R2064:Pard3	UTSW	8	127610611	missense	probably damaging	1.00
R2113:Pard3	UTSW	8	127388537	missense	probably damaging	1.00
R2136:Pard3	UTSW	8	127376885	critical splice donor site	probably null
R2224:Pard3	UTSW	8	127359776	missense	probably damaging	1.00
R2252:Pard3	UTSW	8	127610599	missense	probably damaging	1.00
R3870:Pard3	UTSW	8	127409686	missense	probably damaging	1.00
R4154:Pard3	UTSW	8	127474396	missense	probably damaging	1.00
R4212:Pard3	UTSW	8	127610458	missense	probably benign	0.43
R4243:Pard3	UTSW	8	127371647	missense	probably benign	0.09
R4523:Pard3	UTSW	8	127398627	missense	probably benign	0.08
R4857:Pard3	UTSW	8	127324054	missense	probably damaging	0.98
R4876:Pard3	UTSW	8	127561469	intron	probably benign
R4877:Pard3	UTSW	8	127388537	missense	probably damaging	1.00
R5197:Pard3	UTSW	8	127073290	splice site	probably null
R5215:Pard3	UTSW	8	127378264	missense	probably damaging	1.00
R5279:Pard3	UTSW	8	127460386	critical splice donor site	probably null
R5349:Pard3	UTSW	8	127415743	missense	probably damaging	1.00
R5479:Pard3	UTSW	8	127370355	missense	probably damaging	1.00
R5514:Pard3	UTSW	8	127426605	missense	probably damaging	1.00
R5681:Pard3	UTSW	8	127389433	missense	possibly damaging	0.81
R5934:Pard3	UTSW	8	127389338	missense	probably damaging	1.00
R6034:Pard3	UTSW	8	127064327	utr 5 prime	probably benign
R6034:Pard3	UTSW	8	127064327	utr 5 prime	probably benign
R6187:Pard3	UTSW	8	127073273	missense	probably benign	0.00
R6382:Pard3	UTSW	8	127376783	missense	probably damaging	1.00
R6774:Pard3	UTSW	8	127410747	missense	probably damaging	0.98
R7130:Pard3	UTSW	8	127415683	missense	probably damaging	1.00
R7267:Pard3	UTSW	8	127371575	missense	probably damaging	0.97
R7358:Pard3	UTSW	8	127593092	missense	probably damaging	0.98
R7528:Pard3	UTSW	8	127603165	missense	probably damaging	1.00
R7679:Pard3	UTSW	8	127371846	missense	probably benign	0.05
R7924:Pard3	UTSW	8	127410750	missense	probably benign
R8076:Pard3	UTSW	8	127415596	missense	probably damaging	1.00
R8258:Pard3	UTSW	8	127371540	nonsense	probably null
R8259:Pard3	UTSW	8	127371540	nonsense	probably null
R8345:Pard3	UTSW	8	127324068	missense	probably damaging	1.00
R8421:Pard3	UTSW	8	127140408	intron	probably benign
R8500:Pard3	UTSW	8	127460303	missense	probably damaging	1.00
R8742:Pard3	UTSW	8	127324111	missense	possibly damaging	0.85
R8918:Pard3	UTSW	8	127371530	missense	probably benign	0.29
R9005:Pard3	UTSW	8	127277166	missense	probably damaging	1.00
R9629:Pard3	UTSW	8	127409672	missense	possibly damaging	0.94
R9643:Pard3	UTSW	8	127389419	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GCTAAAGCCTGGAGATTCATCTC -3'
(R):5'- GCATGACACAAAATGCTGCC -3'

Sequencing Primer
(F):5'- ATCCCTGACTGACTTCTTTGC -3'
(R):5'- CCTTCTTTGAGCTCAGGAGTAGAAG -3'

Posted On

2019-10-17