Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01651:Pard3b'

102847

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 #

IGL01651

Quality Score

Status

Chromosome

Chromosomal Location

61677983-62681443 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 62518963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

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

AlphaFold

Q9CSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000046673

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062

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 benign
Transcript: ENSMUST00000094906

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062

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: ENSMUST00000147177

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	C	2: 181,136,531 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,633,458 (GRCm39)	V2980E	probably benign	Het
Anxa7	A	G	14: 20,506,569 (GRCm39)	L457P	probably damaging	Het
Asic2	T	C	11: 80,784,856 (GRCm39)	D310G	probably damaging	Het
Btbd9	T	C	17: 30,439,391 (GRCm39)	S599G	unknown	Het
Col25a1	G	A	3: 130,360,134 (GRCm39)	M487I	probably benign	Het
Ddx42	T	A	11: 106,138,855 (GRCm39)	F885I	probably benign	Het
Foxi3	T	C	6: 70,933,975 (GRCm39)	V154A	probably damaging	Het
Golga3	A	C	5: 110,340,771 (GRCm39)		probably null	Het
Igdcc4	T	C	9: 65,031,394 (GRCm39)	V491A	possibly damaging	Het
Kcnh7	T	A	2: 62,564,628 (GRCm39)	D877V	possibly damaging	Het
Kcnu1	A	G	8: 26,351,123 (GRCm39)	D162G	probably damaging	Het
Morc2a	T	C	11: 3,608,727 (GRCm39)		probably null	Het
Ndufv2	T	C	17: 66,396,466 (GRCm39)	N47S	possibly damaging	Het
Npepl1	T	A	2: 173,956,181 (GRCm39)		probably benign	Het
Or6k4	A	T	1: 173,964,907 (GRCm39)	D199V	probably damaging	Het
Otud7b	C	T	3: 96,060,807 (GRCm39)	Q441*	probably null	Het
Pfkfb3	T	C	2: 11,494,495 (GRCm39)	E143G	probably damaging	Het
Pphln1	C	A	15: 93,386,864 (GRCm39)	Q321K	probably damaging	Het
Rnf121	A	G	7: 101,691,862 (GRCm39)	S2P	probably damaging	Het
Slc25a42	G	A	8: 70,639,250 (GRCm39)	R276C	possibly damaging	Het
Smgc	T	C	15: 91,743,986 (GRCm39)		probably benign	Het
Tdrd5	C	T	1: 156,129,397 (GRCm39)	M104I	probably benign	Het
Vmn2r26	T	A	6: 124,027,632 (GRCm39)	N457K	probably benign	Het
Zfp474	T	C	18: 52,771,655 (GRCm39)	S103P	probably damaging	Het
Zfp53	A	G	17: 21,728,348 (GRCm39)	N127S	probably benign	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62,200,357 (GRCm39)	missense	probably damaging	0.99
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
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

2014-01-21