Mutagenetix > Incidental Mutation

Incidental Mutation 'R5821:Prrc2b'

449914

Institutional Source

Beutler Lab

Gene Symbol

Prrc2b

Ensembl Gene

ENSMUSG00000039262

Gene Name

proline-rich coiled-coil 2B

Synonyms

5830434P21Rik, Bat2l

MMRRC Submission

043401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32102144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 739 (E739V)

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: E739V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: E739V

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: E739V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: E739V

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

unknown
Transcript: ENSMUST00000132459
AA Change: E666V

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: E666V

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

Meta Mutation Damage Score

0.1386

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,458 (GRCm39)	V278D	possibly damaging	Het
Acacb	A	G	5: 114,322,167 (GRCm39)	D227G	possibly damaging	Het
Akap9	A	G	5: 4,096,064 (GRCm39)	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,839,745 (GRCm39)	E564D	probably damaging	Het
Cers2	G	A	3: 95,229,008 (GRCm39)		probably benign	Het
Cfap161	A	G	7: 83,425,188 (GRCm39)	I301T	probably benign	Het
Ciita	A	T	16: 10,329,669 (GRCm39)	E648V	possibly damaging	Het
Cir1	C	T	2: 73,142,804 (GRCm39)	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,518,214 (GRCm39)	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,681 (GRCm39)	F415L	probably benign	Het
Dnah7b	A	G	1: 46,181,292 (GRCm39)	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,232,587 (GRCm39)	P809H	probably damaging	Het
Fuca1	T	A	4: 135,650,273 (GRCm39)		probably null	Het
Galnt2l	A	T	8: 123,627,372 (GRCm39)	*98R	probably null	Het
Gm26796	G	A	12: 80,805,564 (GRCm39)	R237C	unknown	Het
Idua	A	G	5: 108,827,600 (GRCm39)	Y138C	probably benign	Het
Ighd	A	T	12: 113,373,253 (GRCm39)	L240H	probably benign	Het
Ing2	C	G	8: 48,121,861 (GRCm39)	C229S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kctd8	A	T	5: 69,267,828 (GRCm39)	N427K	probably benign	Het
Kif16b	T	C	2: 142,544,586 (GRCm39)	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,120,190 (GRCm39)		probably benign	Het
Krt82	T	A	15: 101,456,820 (GRCm39)	R187*	probably null	Het
Lrrk2	T	C	15: 91,593,593 (GRCm39)		probably null	Het
M1ap	T	C	6: 82,945,083 (GRCm39)	Y126H	probably benign	Het
Mmel1	A	G	4: 154,970,044 (GRCm39)	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,075,185 (GRCm39)	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,538,005 (GRCm39)	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,598,511 (GRCm39)	F95L	probably damaging	Het
Nutm2	A	G	13: 50,623,891 (GRCm39)	Y196C	probably benign	Het
Oxtr	A	G	6: 112,466,457 (GRCm39)	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,591,035 (GRCm39)		probably null	Het
Pde5a	T	C	3: 122,611,604 (GRCm39)	I514T	probably benign	Het
Pign	A	G	1: 105,516,788 (GRCm39)	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,012,933 (GRCm39)	S407G	probably benign	Het
Ppfia3	G	A	7: 45,003,040 (GRCm39)	T372I	probably damaging	Het
Ro60	A	G	1: 143,642,503 (GRCm39)	V209A	probably benign	Het
Scn7a	T	C	2: 66,574,047 (GRCm39)	E192G	probably damaging	Het
Slmap	T	C	14: 26,183,435 (GRCm39)	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259 (GRCm39)		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tgm2	T	A	2: 157,984,974 (GRCm39)	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,683,455 (GRCm39)	S670*	probably null	Het
Tmem145	A	G	7: 25,014,946 (GRCm39)	D523G	probably benign	Het
Vmn2r115	G	A	17: 23,566,937 (GRCm39)	G483E	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTACACCTGCATACCAGC -3'
(R):5'- AAGCTCACCTGACATGCATG -3'

Sequencing Primer
(F):5'- GCTCCCCTGGTCAGAGTAAAGAC -3'
(R):5'- TGACATGCATGCCCATGG -3'

Posted On

2016-12-20