Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Pard3b'

22884

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

038437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62211633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 512 (M512L)

Ref Sequence

ENSEMBL: ENSMUSP00000040439 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046673
AA Change: M512L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: M512L

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

probably benign
Transcript: ENSMUST00000075374
AA Change: M574L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: M574L

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

possibly damaging
Transcript: ENSMUST00000094906
AA Change: M574L

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: M574L

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

Meta Mutation Damage Score

0.1520

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,165,701	I180N	probably damaging	Het
Alk	T	A	17: 71,949,845	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,540	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,380,971	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,806,394	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,785,812	I39V	probably damaging	Het
Asap2	T	A	12: 21,206,325	I208N	probably damaging	Het
Atad5	T	C	11: 80,089,817	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,999,947	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,726,385		probably benign	Het
BC028528	A	G	3: 95,884,968		probably null	Het
Bpifb6	T	A	2: 153,903,966	L74Q	probably benign	Het
Bptf	T	C	11: 107,074,658	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,312,424	D806E	probably benign	Het
Cdhr3	T	C	12: 33,061,650	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,249,776		probably benign	Het
Cenpf	T	A	1: 189,652,359	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759	I1171N	probably damaging	Het
Chd9	T	C	8: 91,008,836		probably null	Het
Ckmt1	A	G	2: 121,363,041	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,267,136	R68L	probably benign	Het
Csmd2	G	T	4: 128,521,911	V2678F	probably benign	Het
Cul7	T	A	17: 46,653,835	V131E	possibly damaging	Het
Dab2	T	C	15: 6,429,827	S407P	probably benign	Het
Dnah17	C	T	11: 118,127,171	G166D	probably benign	Het
F13b	G	A	1: 139,503,847	V52I	probably benign	Het
Fam208b	C	A	13: 3,575,550	V1467L	probably benign	Het
Gjd4	T	C	18: 9,280,549	I176M	probably benign	Het
Gm13083	C	T	4: 143,615,796	P158S	probably damaging	Het
Gm4969	T	C	7: 19,107,020	H63R	possibly damaging	Het
Hoxc11	A	G	15: 102,955,001	Y159C	probably damaging	Het
Hydin	T	C	8: 110,300,010	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,473,079	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,403,542	C71R	unknown	Het
Lamc1	T	C	1: 153,262,607	D167G	probably benign	Het
Lin7c	C	A	2: 109,895,169	A73E	probably damaging	Het
Mms22l	C	A	4: 24,588,224	A952E	probably damaging	Het
Myh3	A	G	11: 67,082,909	N136S	probably benign	Het
Ndufb10	T	C	17: 24,724,244	T31A	probably benign	Het
Nlrp2	T	C	7: 5,308,770	Y37C	possibly damaging	Het
Olfr1384	T	C	11: 49,513,773	I45T	probably damaging	Het
Olfr314	T	C	11: 58,787,059	F275S	probably damaging	Het
Orc3	C	A	4: 34,607,130		probably null	Het
Pcdh10	A	G	3: 45,379,701	D150G	probably damaging	Het
Pcolce	A	T	5: 137,610,479		probably null	Het
Pdcl	A	C	2: 37,352,177	I187S	probably damaging	Het
Pkn1	T	C	8: 83,692,820	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,170,181	T692S	probably benign	Het
Plcb2	C	A	2: 118,718,541	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,742,952	I218F	probably damaging	Het
Pms1	A	T	1: 53,195,037	Y773*	probably null	Het
Polr2e	C	T	10: 80,036,781	G184R	probably damaging	Het
Polr3a	T	C	14: 24,479,186	I369V	probably damaging	Het
Prpf4b	T	C	13: 34,884,031		probably benign	Het
Pzp	G	A	6: 128,523,976	Q140*	probably null	Het
Qrich2	T	A	11: 116,441,395	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,471,989	L373R	probably damaging	Het
Sema3d	A	T	5: 12,508,137	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,939,267	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,162,742	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Sox21	G	A	14: 118,235,942		probably benign	Het
Steap3	A	G	1: 120,227,649	*527R	probably null	Het
Svep1	T	C	4: 58,069,830	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,941,491	F310I	probably damaging	Het
Tecta	A	G	9: 42,375,011	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,702,397	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,604,879	M276L	probably benign	Het
Yeats2	A	C	16: 20,221,677	*142C	probably null	Het
Zfp26	G	T	9: 20,437,870	T466K	probably benign	Het
Zfp426	T	C	9: 20,471,136	N171S	probably benign	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
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
R7879:Pard3b	UTSW	1	62159511	missense	possibly damaging	0.65
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'- ATTTGCGACTGCATGAAAAGCCC -3'
(R):5'- CCTACCAATTTCTGAGCATAGGCCC -3'

Sequencing Primer
(F):5'- TCGGCCTGCCTTGAAAATAG -3'
(R):5'- CCCTGGTAAACATAGACCTGTGATG -3'

Posted On

2013-04-16