Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:Pard3b'

460134

Institutional Source

Beutler Lab

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

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

MMRRC Submission

044125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61677983-62681443 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 61807289 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: ENSMUST00000129030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138768

SMART Domains

Protein: ENSMUSP00000116912
Gene: ENSMUSG00000052062

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188325

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,545,570 (GRCm39)	V5572I	probably benign	Het
Agap1	C	T	1: 89,770,818 (GRCm39)	T656I	probably damaging	Het
Als2cl	C	T	9: 110,716,432 (GRCm39)	R247W	probably damaging	Het
Ankfy1	A	T	11: 72,603,071 (GRCm39)	R33S	probably benign	Het
Ano5	T	C	7: 51,235,079 (GRCm39)	F671L	probably damaging	Het
Arhgap26	A	G	18: 39,283,145 (GRCm39)	M361V	probably damaging	Het
Bckdk	A	G	7: 127,505,145 (GRCm39)	E175G	probably damaging	Het
Bptf	G	T	11: 106,964,022 (GRCm39)	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,670,398 (GRCm39)	I112F	probably damaging	Het
Cln8	T	A	8: 14,946,621 (GRCm39)	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119 (GRCm39)	E300G	probably benign	Het
Cnksr3	T	C	10: 7,092,993 (GRCm39)	I173V	probably benign	Het
Cntn2	T	A	1: 132,451,170 (GRCm39)	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,348,607 (GRCm39)	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,848,957 (GRCm39)	R275Q	possibly damaging	Het
Def8	C	T	8: 124,186,809 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,280 (GRCm39)	V356A	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,735,712 (GRCm39)	V1012A	probably benign	Het
Dus3l	T	A	17: 57,076,579 (GRCm39)	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,696,173 (GRCm39)	I362F	probably damaging	Het
Eeig2	A	T	3: 108,887,468 (GRCm39)	S265R	probably benign	Het
Erc2	T	A	14: 27,498,815 (GRCm39)	D230E	probably damaging	Het
Fat1	A	G	8: 45,497,073 (GRCm39)	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,241,052 (GRCm39)	F179S	probably damaging	Het
Fech	A	G	18: 64,611,720 (GRCm39)		probably null	Het
Fer1l5	T	A	1: 36,424,254 (GRCm39)	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756 (GRCm39)	D7V	probably benign	Het
Flvcr1	G	T	1: 190,741,748 (GRCm39)	T514K	probably damaging	Het
Fmo1	A	T	1: 162,667,185 (GRCm39)		probably null	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Gli3	A	G	13: 15,723,210 (GRCm39)	Y117C	probably damaging	Het
Gnao1	A	G	8: 94,622,873 (GRCm39)	D59G	probably benign	Het
Gria2	T	C	3: 80,614,556 (GRCm39)	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,754,811 (GRCm39)	H161Q	probably benign	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,329,895 (GRCm39)	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,663,882 (GRCm39)	N337S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,676,462 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Mchr1	T	C	15: 81,122,044 (GRCm39)	F265L	probably damaging	Het
Megf8	T	A	7: 25,025,866 (GRCm39)	Y83*	probably null	Het
Mettl18	A	G	1: 163,824,746 (GRCm39)	M356V	probably null	Het
Mrm1	G	A	11: 84,710,018 (GRCm39)	R61W	probably damaging	Het
Muc4	A	T	16: 32,570,523 (GRCm39)	T528S	probably benign	Het
Myef2	A	T	2: 124,937,651 (GRCm39)	L530*	probably null	Het
Nhlrc4	T	C	17: 26,162,693 (GRCm39)	E18G	probably benign	Het
Nisch	C	T	14: 30,895,102 (GRCm39)	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,724,975 (GRCm39)	R97H	probably damaging	Het
Nos2	T	C	11: 78,828,741 (GRCm39)	L321S	probably damaging	Het
Oaz3	T	C	3: 94,343,717 (GRCm39)	M49V	possibly damaging	Het
Olfm5	A	G	7: 103,803,362 (GRCm39)	V367A	probably damaging	Het
Omd	C	T	13: 49,743,112 (GRCm39)	P54L	possibly damaging	Het
Or10ak12	C	T	4: 118,666,575 (GRCm39)	R162H	probably benign	Het
Or11g26	C	A	14: 50,753,249 (GRCm39)	A196D	probably benign	Het
Or2g7	C	A	17: 38,378,641 (GRCm39)	A193D	probably benign	Het
Or51f23	A	T	7: 102,453,481 (GRCm39)	R265S	probably damaging	Het
Or7d10	A	G	9: 19,832,206 (GRCm39)	K234E	probably damaging	Het
Pcdhb18	A	C	18: 37,624,988 (GRCm39)	I773L	possibly damaging	Het
Pde11a	T	C	2: 75,970,175 (GRCm39)		probably null	Het
Pfkfb4	A	C	9: 108,859,462 (GRCm39)		probably benign	Het
Phb2	T	G	6: 124,692,612 (GRCm39)	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,908,969 (GRCm39)	T345I	unknown	Het
Pla2g6	T	C	15: 79,187,728 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,163,020 (GRCm39)	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002 (GRCm39)		probably null	Het
Pramel5	A	G	4: 143,999,553 (GRCm39)	I178T	probably benign	Het
Prom2	C	T	2: 127,372,053 (GRCm39)	W745*	probably null	Het
Pros1	T	A	16: 62,748,424 (GRCm39)	N632K	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rbm25	T	A	12: 83,724,640 (GRCm39)	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,937,004 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,598,882 (GRCm39)	L97I	probably damaging	Het
Scart1	C	T	7: 139,810,359 (GRCm39)	P984S	probably benign	Het
Semp2l2a	T	A	8: 13,887,263 (GRCm39)	D276V	probably benign	Het
Sergef	T	A	7: 46,092,888 (GRCm39)	T374S	probably benign	Het
Sh3rf3	G	T	10: 58,966,808 (GRCm39)	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,707,157 (GRCm39)	T500I	possibly damaging	Het
Smc1b	T	A	15: 84,970,322 (GRCm39)	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,874,829 (GRCm39)	C902Y	probably benign	Het
St14	A	T	9: 31,015,056 (GRCm39)	V314D	probably damaging	Het
Stat3	A	T	11: 100,784,496 (GRCm39)	I602N	possibly damaging	Het
Stx4a	T	A	7: 127,445,661 (GRCm39)	I189N	probably damaging	Het
Tacc1	A	G	8: 25,672,215 (GRCm39)	S338P	probably benign	Het
Tcirg1	T	A	19: 3,952,424 (GRCm39)	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,503,926 (GRCm39)	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,505,409 (GRCm39)	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,637,323 (GRCm39)	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,582,937 (GRCm39)	Q237R	probably damaging	Het
Trim15	C	T	17: 37,173,252 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,070,657 (GRCm39)	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,288,075 (GRCm39)	E227G	probably benign	Het
Ttll13	A	G	7: 79,902,914 (GRCm39)	E194G	probably damaging	Het
Upf1	G	A	8: 70,796,912 (GRCm39)	T107I	probably benign	Het
Vac14	A	G	8: 111,436,981 (GRCm39)	I565V	probably damaging	Het
Zcchc14	A	T	8: 122,338,097 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- GATTTGCTTGTTCCACCACAG -3'
(R):5'- ACAGCCTCTGTAGCTGACAC -3'

Sequencing Primer
(F):5'- GCTTGTTCCACCACAGGATCC -3'
(R):5'- CCTCTGTAGCTGACACTAATTTATTG -3'

Posted On

2017-02-28