Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:Prrc2b'

285989

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 #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32103429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 969 (V969E)

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: V969E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: V969E

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,995,829 (GRCm39)	I1322N	probably benign	Het
Adamts1	A	T	16: 85,592,713 (GRCm39)	M565K	probably benign	Het
Akr1b7	T	A	6: 34,392,333 (GRCm39)	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,390,757 (GRCm39)	V363E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,605 (GRCm39)	T735I	probably damaging	Het
Cds1	T	A	5: 101,962,302 (GRCm39)	C306S	possibly damaging	Het
Cfap251	T	C	5: 123,440,486 (GRCm39)	Y1091H	probably damaging	Het
Clasp2	T	C	9: 113,709,088 (GRCm39)	C644R	probably damaging	Het
Coil	T	C	11: 88,872,580 (GRCm39)	S314P	probably benign	Het
D630045J12Rik	T	A	6: 38,173,329 (GRCm39)	M280L	probably benign	Het
Dmxl2	C	T	9: 54,352,717 (GRCm39)	V795M	probably damaging	Het
Dock10	A	G	1: 80,511,510 (GRCm39)	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,789,536 (GRCm39)	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Fmn1	T	C	2: 113,412,470 (GRCm39)	V870A	possibly damaging	Het
Ifi44	A	G	3: 151,438,019 (GRCm39)	*423Q	probably null	Het
Invs	T	C	4: 48,390,029 (GRCm39)	V173A	probably damaging	Het
Krt88	A	G	15: 101,350,486 (GRCm39)		probably benign	Het
Mctp2	A	T	7: 71,739,953 (GRCm39)	Y812*	probably null	Het
Neto2	T	C	8: 86,396,292 (GRCm39)	I118V	probably damaging	Het
Nutm2	T	G	13: 50,625,075 (GRCm39)	M264R	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or8u8	T	C	2: 86,011,939 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 81,964,688 (GRCm39)	R285Q	probably damaging	Het
Pi16	G	T	17: 29,545,269 (GRCm39)	K177N	probably damaging	Het
Pigg	C	T	5: 108,466,794 (GRCm39)	S225F	possibly damaging	Het
Rab4b	A	C	7: 26,872,154 (GRCm39)	Y189D	probably benign	Het
Ran	A	G	5: 129,099,246 (GRCm39)	N143D	possibly damaging	Het
Rfc4	A	T	16: 22,933,219 (GRCm39)	F286L	probably damaging	Het
Sel1l2	T	C	2: 140,089,859 (GRCm39)	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,482 (GRCm39)	I354V	probably benign	Het
Slc7a2	A	T	8: 41,361,193 (GRCm39)	T386S	probably benign	Het
Tm2d2	G	T	8: 25,512,787 (GRCm39)	V212F	probably benign	Het
Tmem247	A	T	17: 87,225,721 (GRCm39)	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,633,117 (GRCm39)	Y206N	probably benign	Het
Uba5	T	C	9: 103,931,259 (GRCm39)		probably benign	Het
Vmn2r54	A	G	7: 12,369,910 (GRCm39)	L51P	probably damaging	Het
Zfp735	A	G	11: 73,601,319 (GRCm39)	K88E	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
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