Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Prrc2b'

707284

Institutional Source

Beutler Lab

Gene Symbol

Prrc2b

Ensembl Gene

ENSMUSG00000039262

Gene Name

proline-rich coiled-coil 2B

Synonyms

5830434P21Rik, Bat2l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32098779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 697 (Y697C)

Ref Sequence

ENSEMBL: ENSMUSP00000064892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]

AlphaFold

Q7TPM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036691
AA Change: Y697C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: Y697C

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	194	2.7e-85	PFAM
low complexity region	359	374	N/A	INTRINSIC
low complexity region	388	394	N/A	INTRINSIC
low complexity region	413	424	N/A	INTRINSIC
coiled coil region	494	544	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	638	656	N/A	INTRINSIC
low complexity region	885	900	N/A	INTRINSIC
low complexity region	992	1007	N/A	INTRINSIC
low complexity region	1112	1126	N/A	INTRINSIC
low complexity region	1218	1233	N/A	INTRINSIC
low complexity region	1257	1275	N/A	INTRINSIC
low complexity region	1402	1421	N/A	INTRINSIC
low complexity region	1425	1437	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069817
AA Change: Y697C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: Y697C

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	191	3.1e-65	PFAM
low complexity region	359	374	N/A	INTRINSIC
low complexity region	388	394	N/A	INTRINSIC
low complexity region	413	424	N/A	INTRINSIC
coiled coil region	494	544	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	638	656	N/A	INTRINSIC
low complexity region	960	977	N/A	INTRINSIC
low complexity region	1004	1018	N/A	INTRINSIC
low complexity region	1070	1094	N/A	INTRINSIC
low complexity region	1307	1325	N/A	INTRINSIC
low complexity region	1388	1401	N/A	INTRINSIC
low complexity region	1413	1426	N/A	INTRINSIC
low complexity region	1572	1587	N/A	INTRINSIC
low complexity region	1678	1693	N/A	INTRINSIC
low complexity region	1798	1812	N/A	INTRINSIC
low complexity region	1904	1919	N/A	INTRINSIC
low complexity region	1943	1961	N/A	INTRINSIC
low complexity region	2088	2107	N/A	INTRINSIC
low complexity region	2111	2123	N/A	INTRINSIC
low complexity region	2161	2174	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: Y624C

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	119	9.8e-24	PFAM
low complexity region	287	302	N/A	INTRINSIC
low complexity region	316	322	N/A	INTRINSIC
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	421	471	N/A	INTRINSIC
low complexity region	528	549	N/A	INTRINSIC
low complexity region	566	584	N/A	INTRINSIC
low complexity region	813	828	N/A	INTRINSIC
low complexity region	920	935	N/A	INTRINSIC
low complexity region	1040	1054	N/A	INTRINSIC
low complexity region	1146	1161	N/A	INTRINSIC
low complexity region	1185	1203	N/A	INTRINSIC
low complexity region	1330	1349	N/A	INTRINSIC
low complexity region	1353	1365	N/A	INTRINSIC
low complexity region	1403	1416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156313

SMART Domains

Protein: ENSMUSP00000114994
Gene: ENSMUSG00000039262

Domain	Start	End	E-Value	Type
low complexity region	125	140	N/A	INTRINSIC
low complexity region	231	246	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam30	G	A	3: 98,070,129 (GRCm39)	G654D	probably damaging	Het
Cct3	T	C	3: 88,225,706 (GRCm39)	V343A	probably benign	Het
Col11a2	A	G	17: 34,266,204 (GRCm39)	T358A	unknown	Het
Cox6a2	T	C	7: 127,804,914 (GRCm39)	Y94C	probably damaging	Het
Cubn	T	A	2: 13,386,703 (GRCm39)	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,268,373 (GRCm39)	A14E	unknown	Het
Dlgap2	T	C	8: 14,229,683 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,600,448 (GRCm39)	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,525,427 (GRCm39)	S61G	probably null	Het
Ext2	T	A	2: 93,526,603 (GRCm39)	N678Y	probably damaging	Het
Fgfr2	G	T	7: 129,863,561 (GRCm39)	C28*	probably null	Het
Gon4l	C	A	3: 88,809,019 (GRCm39)	D1754E	probably benign	Het
Hivep2	T	A	10: 14,004,693 (GRCm39)	C430*	probably null	Het
Htr7	C	T	19: 35,941,780 (GRCm39)		probably null	Het
Idh3b	A	T	2: 130,122,392 (GRCm39)	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,771,118 (GRCm39)	F56I	probably benign	Het
Inpp5k	C	T	11: 75,536,411 (GRCm39)	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,744,058 (GRCm39)	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,074,561 (GRCm39)	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536 (GRCm39)	H158L	probably benign	Het
Mpp2	T	A	11: 101,951,249 (GRCm39)	T511S	probably benign	Het
Msantd5f6	T	C	4: 73,320,245 (GRCm39)	E178G	possibly damaging	Het
Msh4	T	C	3: 153,573,444 (GRCm39)	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,762,238 (GRCm39)	L1186P		Het
Nckap1l	A	G	15: 103,379,991 (GRCm39)	T346A	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npy5r	T	C	8: 67,134,658 (GRCm39)	N45S	probably benign	Het
Or6c202	T	C	10: 128,996,610 (GRCm39)	N81S	probably benign	Het
Pde6a	G	A	18: 61,354,109 (GRCm39)	A145T	probably damaging	Het
Pfkp	A	C	13: 6,634,724 (GRCm39)	S678A	probably damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pi4ka	C	A	16: 17,135,227 (GRCm39)	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,019,914 (GRCm39)	T179S	probably benign	Het
Popdc2	G	A	16: 38,194,509 (GRCm39)	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,153,827 (GRCm39)	R113Q		Het
Prmt7	C	T	8: 106,961,665 (GRCm39)	R193C	unknown	Het
Prph	G	C	15: 98,955,359 (GRCm39)	R442P	probably damaging	Het
Ptprm	T	A	17: 67,069,143 (GRCm39)	R962S	probably damaging	Het
Raph1	A	G	1: 60,529,300 (GRCm39)	S654P	unknown	Het
Reln	A	G	5: 22,202,937 (GRCm39)	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,145,568 (GRCm39)	I553N	probably benign	Het
Rnf168	T	C	16: 32,110,801 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,747,157 (GRCm39)		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Taf4b	C	T	18: 14,954,555 (GRCm39)	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,427,377 (GRCm39)	V195A	probably benign	Het
Tomm70a	A	G	16: 56,942,399 (GRCm39)	M59V	probably benign	Het
Trip12	A	G	1: 84,727,019 (GRCm39)	S1184P	probably damaging	Het
Trrap	A	G	5: 144,727,925 (GRCm39)	S549G	probably benign	Het
Unc5d	T	A	8: 29,709,471 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,308,489 (GRCm39)		probably null	Het
Usp45	T	C	4: 21,784,755 (GRCm39)	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,460,994 (GRCm39)	N773K	probably damaging	Het
Vps13c	A	T	9: 67,858,977 (GRCm39)	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,032,078 (GRCm39)	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,041,533 (GRCm39)	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,639,394 (GRCm39)	T366S	probably benign	Het

Other mutations in Prrc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Prrc2b	APN	2	32,098,731 (GRCm39)	missense	probably damaging	1.00
IGL00846:Prrc2b	APN	2	32,089,109 (GRCm39)	splice site	probably benign
IGL00977:Prrc2b	APN	2	32,103,822 (GRCm39)	missense	probably benign	0.05
IGL01372:Prrc2b	APN	2	32,113,942 (GRCm39)	missense	probably damaging	0.99
IGL01993:Prrc2b	APN	2	32,114,057 (GRCm39)	missense	possibly damaging	0.47
IGL02097:Prrc2b	APN	2	32,081,513 (GRCm39)	splice site	probably benign
IGL02165:Prrc2b	APN	2	32,104,652 (GRCm39)	missense	probably damaging	1.00
IGL02184:Prrc2b	APN	2	32,111,467 (GRCm39)	missense	probably benign	0.19
IGL02238:Prrc2b	APN	2	32,103,429 (GRCm39)	missense	probably damaging	1.00
IGL02338:Prrc2b	APN	2	32,104,047 (GRCm39)	missense	probably benign	0.01
IGL02399:Prrc2b	APN	2	32,116,973 (GRCm39)	nonsense	probably null
IGL02597:Prrc2b	APN	2	32,109,625 (GRCm39)	missense	probably damaging	1.00
IGL02729:Prrc2b	APN	2	32,098,770 (GRCm39)	missense	probably damaging	0.99
IGL02743:Prrc2b	APN	2	32,084,441 (GRCm39)	missense	probably damaging	1.00
IGL02815:Prrc2b	APN	2	32,094,265 (GRCm39)	missense	probably damaging	1.00
IGL03159:Prrc2b	APN	2	32,084,498 (GRCm39)	missense	probably damaging	0.98
BB002:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
BB012:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
FR4304:Prrc2b	UTSW	2	32,111,179 (GRCm39)	missense	probably damaging	1.00
R0082:Prrc2b	UTSW	2	32,102,310 (GRCm39)	splice site	probably benign
R0105:Prrc2b	UTSW	2	32,103,323 (GRCm39)	nonsense	probably null
R0276:Prrc2b	UTSW	2	32,109,666 (GRCm39)	missense	probably damaging	0.97
R0325:Prrc2b	UTSW	2	32,089,103 (GRCm39)	missense	probably damaging	1.00
R0436:Prrc2b	UTSW	2	32,120,672 (GRCm39)	missense	probably damaging	1.00
R0595:Prrc2b	UTSW	2	32,073,189 (GRCm39)	missense	probably damaging	1.00
R0607:Prrc2b	UTSW	2	32,103,882 (GRCm39)	missense	probably damaging	0.99
R0650:Prrc2b	UTSW	2	32,119,267 (GRCm39)	splice site	probably benign
R1282:Prrc2b	UTSW	2	32,113,456 (GRCm39)	missense	probably damaging	0.96
R1421:Prrc2b	UTSW	2	32,090,990 (GRCm39)	missense	possibly damaging	0.65
R1452:Prrc2b	UTSW	2	32,084,997 (GRCm39)	missense	probably damaging	1.00
R1535:Prrc2b	UTSW	2	32,094,301 (GRCm39)	missense	probably benign	0.06
R1709:Prrc2b	UTSW	2	32,084,473 (GRCm39)	missense	probably damaging	1.00
R1710:Prrc2b	UTSW	2	32,102,234 (GRCm39)	missense	probably damaging	0.99
R2094:Prrc2b	UTSW	2	32,072,582 (GRCm39)	missense	probably damaging	1.00
R2202:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2203:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2204:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2428:Prrc2b	UTSW	2	32,106,067 (GRCm39)	missense	probably benign	0.00
R2435:Prrc2b	UTSW	2	32,109,741 (GRCm39)	missense	probably damaging	0.99
R3439:Prrc2b	UTSW	2	32,096,359 (GRCm39)	missense	probably benign	0.01
R4175:Prrc2b	UTSW	2	32,108,820 (GRCm39)	intron	probably benign
R4710:Prrc2b	UTSW	2	32,083,869 (GRCm39)	missense	possibly damaging	0.80
R4728:Prrc2b	UTSW	2	32,120,637 (GRCm39)	missense	probably damaging	1.00
R4791:Prrc2b	UTSW	2	32,107,351 (GRCm39)	splice site	probably null
R4876:Prrc2b	UTSW	2	32,104,212 (GRCm39)	missense	probably benign	0.00
R4908:Prrc2b	UTSW	2	32,116,330 (GRCm39)	missense	possibly damaging	0.94
R4997:Prrc2b	UTSW	2	32,112,323 (GRCm39)	missense	probably damaging	1.00
R5240:Prrc2b	UTSW	2	32,096,408 (GRCm39)	missense	probably benign	0.01
R5276:Prrc2b	UTSW	2	32,104,734 (GRCm39)	missense	probably benign	0.09
R5455:Prrc2b	UTSW	2	32,111,355 (GRCm39)	critical splice acceptor site	probably null
R5821:Prrc2b	UTSW	2	32,102,144 (GRCm39)	missense	probably damaging	0.99
R5835:Prrc2b	UTSW	2	32,096,485 (GRCm39)	missense	probably benign	0.18
R5958:Prrc2b	UTSW	2	32,102,092 (GRCm39)	missense	possibly damaging	0.89
R6052:Prrc2b	UTSW	2	32,102,297 (GRCm39)	missense	possibly damaging	0.92
R6218:Prrc2b	UTSW	2	32,098,823 (GRCm39)	missense	probably damaging	1.00
R6428:Prrc2b	UTSW	2	32,116,508 (GRCm39)	splice site	probably null
R6505:Prrc2b	UTSW	2	32,112,332 (GRCm39)	missense	probably damaging	1.00
R6812:Prrc2b	UTSW	2	32,103,153 (GRCm39)	missense	probably benign	0.30
R6826:Prrc2b	UTSW	2	32,112,300 (GRCm39)	critical splice acceptor site	probably null
R6827:Prrc2b	UTSW	2	32,090,963 (GRCm39)	missense	probably benign	0.37
R7021:Prrc2b	UTSW	2	32,111,498 (GRCm39)	missense	probably damaging	1.00
R7078:Prrc2b	UTSW	2	32,103,531 (GRCm39)	missense	probably benign	0.01
R7081:Prrc2b	UTSW	2	32,103,075 (GRCm39)	missense	probably benign	0.12
R7101:Prrc2b	UTSW	2	32,117,005 (GRCm39)	missense	possibly damaging	0.68
R7215:Prrc2b	UTSW	2	32,119,309 (GRCm39)	missense	probably damaging	1.00
R7228:Prrc2b	UTSW	2	32,104,318 (GRCm39)	nonsense	probably null
R7566:Prrc2b	UTSW	2	32,084,402 (GRCm39)	missense	probably benign	0.02
R7719:Prrc2b	UTSW	2	32,107,280 (GRCm39)	nonsense	probably null
R7925:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
R7999:Prrc2b	UTSW	2	32,084,426 (GRCm39)	missense	probably damaging	0.96
R8099:Prrc2b	UTSW	2	32,098,686 (GRCm39)	missense	probably benign	0.06
R8154:Prrc2b	UTSW	2	32,108,689 (GRCm39)	missense	probably benign	0.42
R8252:Prrc2b	UTSW	2	32,109,392 (GRCm39)	missense	possibly damaging	0.80
R8379:Prrc2b	UTSW	2	32,104,666 (GRCm39)	missense	probably damaging	0.96
R8485:Prrc2b	UTSW	2	32,102,105 (GRCm39)	missense	possibly damaging	0.83
R8845:Prrc2b	UTSW	2	32,106,162 (GRCm39)	missense	possibly damaging	0.89
R8845:Prrc2b	UTSW	2	32,102,105 (GRCm39)	missense	possibly damaging	0.83
R8919:Prrc2b	UTSW	2	32,104,953 (GRCm39)	missense	probably benign
R8982:Prrc2b	UTSW	2	32,102,134 (GRCm39)	missense	probably damaging	1.00
R9065:Prrc2b	UTSW	2	32,109,304 (GRCm39)	missense	probably damaging	0.99
R9127:Prrc2b	UTSW	2	32,103,764 (GRCm39)	missense	probably damaging	1.00
R9217:Prrc2b	UTSW	2	32,103,414 (GRCm39)	missense	probably damaging	1.00
R9344:Prrc2b	UTSW	2	32,103,600 (GRCm39)	missense	probably benign	0.28
R9386:Prrc2b	UTSW	2	32,104,125 (GRCm39)	missense	probably benign
R9601:Prrc2b	UTSW	2	32,090,953 (GRCm39)	missense	probably damaging	1.00
R9607:Prrc2b	UTSW	2	32,098,794 (GRCm39)	missense	probably damaging	0.99
R9670:Prrc2b	UTSW	2	32,103,199 (GRCm39)	missense	probably benign	0.00
R9706:Prrc2b	UTSW	2	32,107,300 (GRCm39)	missense	probably benign	0.00
Z1088:Prrc2b	UTSW	2	32,106,744 (GRCm39)	missense	probably damaging	1.00
Z1088:Prrc2b	UTSW	2	32,104,441 (GRCm39)	missense	probably benign	0.03
Z1177:Prrc2b	UTSW	2	32,116,364 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCAGTACCCTTAGCAC -3'
(R):5'- AGGAGCAGAACTGTGTCAATATC -3'

Sequencing Primer
(F):5'- GTACCCTTAGCACACCCTGAG -3'
(R):5'- CTTGGTAAAACTCAAGACTGGTC -3'

Posted On

2022-04-18