Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Prrc2b'

282658

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32104652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1377 (S1377P)

Ref Sequence

ENSEMBL: ENSMUSP00000064892 (fasta)

Gene Model

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

AlphaFold

Q7TPM1

Predicted Effect

probably benign
Transcript: ENSMUST00000036691

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262

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: S1377P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: S1377P

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

noncoding transcript
Transcript: ENSMUST00000123270

Predicted Effect

probably benign
Transcript: ENSMUST00000128936

SMART Domains

Protein: ENSMUSP00000121664
Gene: ENSMUSG00000039262

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
low complexity region	159	174	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129626

Predicted Effect

probably benign
Transcript: ENSMUST00000132459

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262

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

noncoding transcript
Transcript: ENSMUST00000140015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142219

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,904,586 (GRCm39)	M199K	possibly damaging	Het
Abo	C	A	2: 26,733,441 (GRCm39)	V255L	probably damaging	Het
Alas1	A	T	9: 106,115,982 (GRCm39)	M344K	probably damaging	Het
Ap1m1	A	G	8: 73,003,653 (GRCm39)	I118V	probably benign	Het
Ap5m1	A	T	14: 49,316,185 (GRCm39)	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,252,828 (GRCm39)	E706G	probably damaging	Het
Baz2a	C	A	10: 127,955,218 (GRCm39)	A775E	probably benign	Het
C3	A	T	17: 57,532,092 (GRCm39)	F210I	probably benign	Het
Casq1	A	G	1: 172,040,948 (GRCm39)	L280P	probably damaging	Het
Cebpz	A	G	17: 79,229,598 (GRCm39)	F919L	probably damaging	Het
Commd1b	A	T	11: 22,932,072 (GRCm39)		probably benign	Het
Dclre1c	T	A	2: 3,451,418 (GRCm39)		probably benign	Het
Dsc3	T	G	18: 20,116,709 (GRCm39)	M276L	probably benign	Het
Dync2i2	T	C	2: 29,922,172 (GRCm39)	T430A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,557,618 (GRCm39)	T310S	probably benign	Het
Ep300	A	G	15: 81,525,592 (GRCm39)	K1472R	probably benign	Het
Fbxl2	T	C	9: 113,847,099 (GRCm39)	D8G	probably benign	Het
Galnt5	T	A	2: 57,888,877 (GRCm39)	M159K	probably benign	Het
Hars2	T	A	18: 36,916,447 (GRCm39)	M1K	probably null	Het
Hk1	T	C	10: 62,117,667 (GRCm39)	T619A	probably damaging	Het
Ifi44	C	T	3: 151,455,067 (GRCm39)	V53M	probably damaging	Het
Ippk	T	A	13: 49,600,011 (GRCm39)	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,387,035 (GRCm39)	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,392,251 (GRCm39)	V991E	probably damaging	Het
Larp6	A	G	9: 60,620,595 (GRCm39)	E36G	probably benign	Het
Lonp2	A	T	8: 87,435,654 (GRCm39)	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,459,378 (GRCm39)	M1I	probably null	Het
Mmp2	A	G	8: 93,559,847 (GRCm39)	K270R	probably null	Het
Nexmif	C	T	X: 103,128,360 (GRCm39)	V1186I	probably benign	Het
Or11g2	A	G	14: 50,856,468 (GRCm39)	Y263C	probably damaging	Het
Or1x2	A	T	11: 50,918,470 (GRCm39)	I214F	probably benign	Het
Pld2	T	C	11: 70,446,503 (GRCm39)	L763P	probably damaging	Het
Pold1	A	T	7: 44,187,484 (GRCm39)	F644L	probably damaging	Het
Rps18-ps6	T	G	13: 97,896,648 (GRCm39)	K150T	probably benign	Het
Rttn	A	G	18: 89,061,165 (GRCm39)	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,728,875 (GRCm39)	V130A	probably damaging	Het
Slfn8	T	C	11: 82,908,022 (GRCm39)	R174G	probably benign	Het
Slitrk6	G	A	14: 110,989,249 (GRCm39)	P153S	probably benign	Het
Sorcs3	T	C	19: 48,642,511 (GRCm39)	I388T	probably benign	Het
Star	A	T	8: 26,302,843 (GRCm39)	T262S	possibly damaging	Het
Strn	A	T	17: 78,995,049 (GRCm39)	W2R	probably damaging	Het
Tnmd	T	C	X: 132,763,701 (GRCm39)	S172P	probably damaging	Het
Togaram2	A	G	17: 72,004,861 (GRCm39)	K305R	probably benign	Het
Trhde	C	A	10: 114,428,066 (GRCm39)	W410L	probably damaging	Het
Trim5	C	T	7: 103,928,566 (GRCm39)	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vmn1r80	T	A	7: 11,927,379 (GRCm39)	M163K	probably benign	Het
Wnk4	C	A	11: 101,166,117 (GRCm39)		probably benign	Het
Zfp277	T	A	12: 40,365,802 (GRCm39)	I430F	possibly damaging	Het
Zfp566	A	T	7: 29,777,255 (GRCm39)	C309S	probably damaging	Het
Zfp740	T	G	15: 102,121,109 (GRCm39)	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,665,989 (GRCm39)	I158F	probably damaging	Het
Zswim3	C	A	2: 164,663,035 (GRCm39)	A505D	possibly damaging	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
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
R9338:Prrc2b	UTSW	2	32,098,779 (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

Posted On

2015-04-16