Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:Pard3b'

608606

Institutional Source

Beutler Lab

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

PAR3beta, 1810008K04Rik, 2810455B10Rik, PAR3B, 2010002N16Rik, Als2cr19, PAR3L

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62159511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 253 (C253S)

Ref Sequence

ENSEMBL: ENSMUSP00000074837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046673] [ENSMUST00000075374] [ENSMUST00000094906]

AlphaFold

Q9CSB4

PDB Structure

Solution structure of PDZ domain in protein XP_110852 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046673
AA Change: C253S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: C253S

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
internal_repeat_1	479	515	4.63e-5	PROSPERO
low complexity region	527	537	N/A	INTRINSIC
low complexity region	594	601	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
coiled coil region	761	808	N/A	INTRINSIC
coiled coil region	839	866	N/A	INTRINSIC
low complexity region	1075	1083	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075374
AA Change: C253S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: C253S

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	8.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
coiled coil region	901	928	N/A	INTRINSIC
low complexity region	1137	1145	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094906
AA Change: C253S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: C253S

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.1e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
low complexity region	901	913	N/A	INTRINSIC
low complexity region	1038	1046	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,502,852	I81T	probably benign	Het
5430419D17Rik	T	A	7: 131,243,142	V588E	probably damaging	Het
Acnat2	G	A	4: 49,383,299	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,236,224	V74M	probably damaging	Het
Alb	C	A	5: 90,472,648	T539K	probably benign	Het
B4galnt2	G	A	11: 95,869,397	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,177,132	E58K	possibly damaging	Het
Calr3	C	T	8: 72,424,643	S372N	unknown	Het
Cdh20	A	T	1: 104,947,322		probably null	Het
Cdh7	A	C	1: 110,048,947	E114A	probably benign	Het
Cep70	A	G	9: 99,262,633	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,407,081	F256S	probably damaging	Het
Cic	A	G	7: 25,285,126	T996A	probably benign	Het
Clstn2	A	G	9: 97,469,764	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,391,806	M348K	probably benign	Het
Dnah11	A	C	12: 118,041,009	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,703,439	I2600V	probably benign	Het
Dock3	A	C	9: 106,908,501	S185A	probably benign	Het
Dock4	A	T	12: 40,730,084	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,491,798	S371T	probably benign	Het
Fam83b	A	T	9: 76,492,455	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,908,796	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,266,617	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,775,929	M595K	probably benign	Het
Htt	C	T	5: 34,823,908	A875V	probably benign	Het
Hvcn1	G	A	5: 122,238,638		probably null	Het
Igsf10	A	G	3: 59,330,724	S679P	probably damaging	Het
Itsn2	A	G	12: 4,701,265	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,702,435	T523A	probably benign	Het
Kif6	T	A	17: 49,832,186	I562N	probably benign	Het
Klhl9	C	A	4: 88,720,338	W555C	probably damaging	Het
Krt78	T	C	15: 101,948,189	T423A	probably benign	Het
Mapk10	C	T	5: 102,963,496	V391I	probably benign	Het
Noa1	T	C	5: 77,297,197	M592V	probably benign	Het
Npy5r	A	G	8: 66,681,316	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,331,957	V499E	probably benign	Het
Olfr1269	A	T	2: 90,118,841	C252*	probably null	Het
Olfr806	T	C	10: 129,738,690	I76V	probably benign	Het
Otogl	T	C	10: 107,777,109	E2052G	probably benign	Het
Pclo	T	C	5: 14,677,214	S2029P	unknown	Het
Plekhg3	A	G	12: 76,565,569	I401M	probably damaging	Het
Polg	A	T	7: 79,450,644	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,778,834	L62H	probably damaging	Het
Psmf1	T	A	2: 151,734,243	E115V	probably benign	Het
Ptpn9	A	T	9: 57,056,726	N381I	possibly damaging	Het
Pzp	A	G	6: 128,489,016	S1234P	probably benign	Het
Qrich1	A	G	9: 108,559,286	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,829,066	A323S	probably benign	Het
Rimbp3	T	C	16: 17,211,046	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,286,005	L430*	probably null	Het
Sema7a	A	T	9: 57,955,080	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,594,022	I39T	probably benign	Het
Stap2	T	C	17: 56,002,023	T115A	probably benign	Het
Stmn4	A	G	14: 66,357,939	I138V	probably benign	Het
Suds3	C	T	5: 117,098,270		probably null	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tet1	A	C	10: 62,879,046	D323E	probably benign	Het
Tia1	A	G	6: 86,424,365	D140G	probably damaging	Het
Trio	C	T	15: 27,851,924	R827H	possibly damaging	Het
Ttn	A	G	2: 76,795,053		probably null	Het
Unc80	T	C	1: 66,510,707	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,244,602	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,238,929	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62161198	missense	probably damaging	0.99
IGL01363:Pard3b	APN	1	62637640	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62161248	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62637862	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62479804	intron	probably benign
IGL01670:Pard3b	APN	1	62211648	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61767950	missense	possibly damaging	0.84
IGL02232:Pard3b	APN	1	62166382	missense	probably damaging	1.00
IGL02450:Pard3b	APN	1	62532676	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62198771	splice site	probably benign
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61639315	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62211633	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62230212	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62166469	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62211718	splice site	probably benign
R0497:Pard3b	UTSW	1	62440008	splice site	probably null
R1264:Pard3b	UTSW	1	62164157	missense	probably damaging	1.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62166367	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62637894	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62637604	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62144891	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62479683	nonsense	probably null
R2435:Pard3b	UTSW	1	62587738	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62344878	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62479569	missense	probably benign
R3712:Pard3b	UTSW	1	62343978	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62161229	missense	probably benign	0.06
R3942:Pard3b	UTSW	1	62159452	missense	probably damaging	1.00
R4683:Pard3b	UTSW	1	62216516	missense	probably benign
R4729:Pard3b	UTSW	1	62211684	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61768000	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62344060	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62161161	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62344113	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62010406	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61639343	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62010466	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62637916	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62440001	splice site	probably null
R5793:Pard3b	UTSW	1	61767973	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61768130	intron	probably benign
R5950:Pard3b	UTSW	1	62216531	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62076409	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62161121	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62159470	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62161181	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62440032	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62343934	missense	probably benign	0.00
R8048:Pard3b	UTSW	1	62153989	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61767984	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62637798	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62159478	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62344999	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62164185	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62166369	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62211627	nonsense	probably null
Z1176:Pard3b	UTSW	1	62238892	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGATGAACCATTTGGCTG -3'
(R):5'- ATGGATGGTCACAGGTTCCATAATG -3'

Sequencing Primer
(F):5'- TAGCTGCAAGCAGAGCA -3'
(R):5'- CCATAATGGGACTTGGCTTGACATTC -3'

Posted On

2019-12-20