Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Pard3b'

409620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 62198771 bp (GRCm38)

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,575,641	T210A	probably damaging	Het
Adgb	T	A	10: 10,400,572	T351S	probably benign	Het
Akap9	A	G	5: 3,968,755	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,875,643	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,579,279	F395V	probably damaging	Het
Bub1	T	C	2: 127,817,453	N328S	probably benign	Het
Cacna1s	A	G	1: 136,111,993	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,509,275	F200L	probably damaging	Het
Calca	G	A	7: 114,633,684	S110L	probably benign	Het
Ccdc120	G	A	X: 7,735,362	P263S	probably benign	Het
Dgki	C	A	6: 37,149,664		probably benign	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
F5	A	T	1: 164,195,594	T1574S	probably benign	Het
Fam227b	T	C	2: 126,126,842		probably null	Het
Gm20521	T	A	14: 54,897,223	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,959,718	I239N	probably benign	Het
Itih1	C	A	14: 30,941,557	E163D	probably benign	Het
Lama1	A	T	17: 67,779,104	Y1446F	probably benign	Het
Lama3	C	T	18: 12,439,349	T537M	possibly damaging	Het
Lars	G	T	18: 42,221,571	Y770*	probably null	Het
Lrp2	A	T	2: 69,483,133	V2418E	probably damaging	Het
Maip1	A	G	1: 57,407,200	E143G	probably damaging	Het
Mast4	G	T	13: 102,760,964	S739*	probably null	Het
Mctp1	C	T	13: 76,801,513	Q555*	probably null	Het
Med14	A	T	X: 12,747,503	D291E	probably benign	Het
Mgat2	T	A	12: 69,185,003	V117D	probably damaging	Het
Mllt1	A	T	17: 56,900,094	M250K	probably benign	Het
Myt1	A	C	2: 181,797,801	Y372S	probably benign	Het
Naa16	T	A	14: 79,339,628	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,250,902	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,449,509	K180N	probably benign	Het
Nova1	A	G	12: 46,700,078	V472A	probably damaging	Het
Nup153	T	C	13: 46,693,839	T705A	probably benign	Het
Odf2	T	A	2: 29,901,079	N79K	probably benign	Het
Olfr1303	A	G	2: 111,814,423	I101T	possibly damaging	Het
Pde8b	G	A	13: 95,046,398	T388I	probably damaging	Het
Pet2	A	G	X: 89,405,251	V424A	possibly damaging	Het
Phactr2	A	G	10: 13,388,713		probably benign	Het
Phf12	T	C	11: 77,983,360	S17P	probably damaging	Het
Psmg2	T	A	18: 67,646,032	L90*	probably null	Het
Ryr2	T	C	13: 11,643,902		probably null	Het
Sec23b	T	C	2: 144,582,032	F534L	probably benign	Het
Sin3b	A	G	8: 72,757,058		probably benign	Het
Slc30a5	A	T	13: 100,811,310	L463Q	probably damaging	Het
Slc35g3	T	C	11: 69,761,069	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,571,466	S538I	probably damaging	Het
Socs2	G	T	10: 95,412,851	C133*	probably null	Het
Srebf2	G	A	15: 82,192,222	R691H	probably benign	Het
Tlr11	C	A	14: 50,361,100	P181Q	probably damaging	Het
Tlr7	T	A	X: 167,306,207	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,102,273	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,537,566	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,919,594	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,249,983	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,601,010	I241N	possibly damaging	Het
Wdfy3	T	C	5: 101,935,997	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,261,791	S231C	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
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
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

Posted On

2016-08-02