Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00428:Pard3b'

7459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00428

Quality Score

Status

Chromosome

Chromosomal Location

61677983-62681443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62200357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 299 (S299P)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046673
AA Change: S299P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: S299P

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: S299P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: S299P

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: S299P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: S299P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188325

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	A	10: 14,343,119 (GRCm39)	P276L	probably benign	Het
Asap1	G	A	15: 63,991,803 (GRCm39)		probably benign	Het
Axl	T	C	7: 25,460,297 (GRCm39)	T723A	probably damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Bltp1	A	G	3: 37,065,876 (GRCm39)	N3491S	probably benign	Het
Capn7	A	G	14: 31,085,535 (GRCm39)	K503E	probably benign	Het
Cbln4	A	G	2: 171,880,970 (GRCm39)	V108A	probably benign	Het
Ccdc71	C	T	9: 108,341,354 (GRCm39)	T389M	probably damaging	Het
Ccdc91	A	G	6: 147,508,452 (GRCm39)	T393A	unknown	Het
Cdh20	A	T	1: 104,881,612 (GRCm39)	H359L	probably benign	Het
Cfap119	A	T	7: 127,184,210 (GRCm39)	S229T	probably damaging	Het
Coro7	C	T	16: 4,452,500 (GRCm39)	V364M	possibly damaging	Het
Ctsq	A	T	13: 61,185,528 (GRCm39)	N204K	probably damaging	Het
Dnaja3	C	T	16: 4,512,309 (GRCm39)	R238C	probably damaging	Het
Dynlt1a	C	T	17: 6,362,062 (GRCm39)	V39I	possibly damaging	Het
Gp1ba	A	G	11: 70,531,478 (GRCm39)		probably benign	Het
Gtf3c3	T	C	1: 54,455,114 (GRCm39)	Y583C	probably damaging	Het
Invs	T	C	4: 48,402,909 (GRCm39)	F514S	probably damaging	Het
Kif23	A	T	9: 61,833,750 (GRCm39)	C484S	probably benign	Het
Masp1	A	G	16: 23,295,062 (GRCm39)	Y400H	probably damaging	Het
Olfml3	G	A	3: 103,644,298 (GRCm39)		probably null	Het
Pcdhb16	A	T	18: 37,611,623 (GRCm39)	E194D	possibly damaging	Het
Pip5k1c	A	T	10: 81,141,545 (GRCm39)	T78S	probably benign	Het
Septin11	T	C	5: 93,304,877 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,422,823 (GRCm39)	N11D	probably benign	Het
Slc10a6	G	A	5: 103,760,362 (GRCm39)	T211I	probably benign	Het
Smim8	T	C	4: 34,769,006 (GRCm39)	T93A	probably benign	Het
Tg	A	G	15: 66,645,273 (GRCm39)	I774M	probably benign	Het
Tulp4	A	G	17: 6,189,351 (GRCm39)	T58A	probably damaging	Het
Virma	T	C	4: 11,519,424 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,970,177 (GRCm39)	D210G	probably damaging	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Pard3b	APN	1	62,676,799 (GRCm39)	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62,200,407 (GRCm39)	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62,677,021 (GRCm39)	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62,518,963 (GRCm39)	intron	probably benign
IGL01670:Pard3b	APN	1	62,250,807 (GRCm39)	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61,807,109 (GRCm39)	missense	possibly damaging	0.84
IGL02232:Pard3b	APN	1	62,205,541 (GRCm39)	missense	probably damaging	1.00
IGL02450:Pard3b	APN	1	62,571,835 (GRCm39)	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62,237,930 (GRCm39)	splice site	probably benign
R0040:Pard3b	UTSW	1	62,676,979 (GRCm39)	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62,676,979 (GRCm39)	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61,678,474 (GRCm39)	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62,250,792 (GRCm39)	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62,269,371 (GRCm39)	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62,205,628 (GRCm39)	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62,250,877 (GRCm39)	splice site	probably benign
R0497:Pard3b	UTSW	1	62,479,167 (GRCm39)	splice site	probably null
R1264:Pard3b	UTSW	1	62,203,316 (GRCm39)	missense	probably damaging	1.00
R1468:Pard3b	UTSW	1	62,384,188 (GRCm39)	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62,384,188 (GRCm39)	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62,205,526 (GRCm39)	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62,677,053 (GRCm39)	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62,676,763 (GRCm39)	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62,184,050 (GRCm39)	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62,518,842 (GRCm39)	nonsense	probably null
R2435:Pard3b	UTSW	1	62,626,897 (GRCm39)	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62,384,037 (GRCm39)	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62,518,728 (GRCm39)	missense	probably benign
R3712:Pard3b	UTSW	1	62,383,137 (GRCm39)	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62,200,388 (GRCm39)	missense	probably benign	0.06
R3942:Pard3b	UTSW	1	62,198,611 (GRCm39)	missense	probably damaging	1.00
R4683:Pard3b	UTSW	1	62,255,675 (GRCm39)	missense	probably benign
R4729:Pard3b	UTSW	1	62,250,843 (GRCm39)	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61,807,159 (GRCm39)	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62,383,219 (GRCm39)	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62,200,320 (GRCm39)	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62,383,272 (GRCm39)	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62,049,565 (GRCm39)	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61,678,502 (GRCm39)	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62,049,625 (GRCm39)	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62,677,075 (GRCm39)	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62,479,160 (GRCm39)	splice site	probably null
R5793:Pard3b	UTSW	1	61,807,132 (GRCm39)	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61,807,289 (GRCm39)	intron	probably benign
R5950:Pard3b	UTSW	1	62,255,690 (GRCm39)	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62,115,568 (GRCm39)	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62,200,280 (GRCm39)	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62,198,629 (GRCm39)	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62,200,340 (GRCm39)	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62,479,191 (GRCm39)	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62,383,093 (GRCm39)	missense	probably benign	0.00
R7879:Pard3b	UTSW	1	62,198,670 (GRCm39)	missense	possibly damaging	0.65
R8048:Pard3b	UTSW	1	62,193,148 (GRCm39)	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61,807,143 (GRCm39)	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62,676,957 (GRCm39)	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62,198,637 (GRCm39)	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62,384,158 (GRCm39)	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62,677,026 (GRCm39)	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62,677,026 (GRCm39)	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62,383,294 (GRCm39)	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62,383,294 (GRCm39)	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62,203,344 (GRCm39)	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62,205,528 (GRCm39)	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62,250,786 (GRCm39)	nonsense	probably null
Z1176:Pard3b	UTSW	1	62,278,051 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20