Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Prrc2a'

508470

Institutional Source

Beutler Lab

Gene Symbol

Prrc2a

Ensembl Gene

ENSMUSG00000024393

Gene Name

proline-rich coiled-coil 2A

Synonyms

3110039B05Rik, D17H6S51E, Wbp12, G2, Bat2, Bat-2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35368052-35383873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35373909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1479 (L1479F)

Ref Sequence

ENSEMBL: ENSMUSP00000025253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025253] [ENSMUST00000174805]

AlphaFold

Q7TSC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025253
AA Change: L1479F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: L1479F

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	189	1.2e-70	PFAM
low complexity region	243	276	N/A	INTRINSIC
low complexity region	343	357	N/A	INTRINSIC
low complexity region	396	413	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
coiled coil region	455	494	N/A	INTRINSIC
low complexity region	504	523	N/A	INTRINSIC
low complexity region	527	566	N/A	INTRINSIC
low complexity region	593	618	N/A	INTRINSIC
low complexity region	643	684	N/A	INTRINSIC
low complexity region	687	709	N/A	INTRINSIC
low complexity region	711	717	N/A	INTRINSIC
low complexity region	755	768	N/A	INTRINSIC
low complexity region	826	833	N/A	INTRINSIC
low complexity region	861	871	N/A	INTRINSIC
low complexity region	882	894	N/A	INTRINSIC
low complexity region	902	924	N/A	INTRINSIC
low complexity region	944	966	N/A	INTRINSIC
low complexity region	1032	1070	N/A	INTRINSIC
low complexity region	1129	1149	N/A	INTRINSIC
low complexity region	1162	1179	N/A	INTRINSIC
low complexity region	1190	1211	N/A	INTRINSIC
low complexity region	1234	1242	N/A	INTRINSIC
low complexity region	1285	1300	N/A	INTRINSIC
low complexity region	1346	1360	N/A	INTRINSIC
low complexity region	1394	1424	N/A	INTRINSIC
low complexity region	1430	1456	N/A	INTRINSIC
low complexity region	1488	1511	N/A	INTRINSIC
low complexity region	1553	1565	N/A	INTRINSIC
low complexity region	1693	1713	N/A	INTRINSIC
internal_repeat_1	1810	1860	5.56e-5	PROSPERO
low complexity region	1879	1895	N/A	INTRINSIC
internal_repeat_1	1924	1983	5.56e-5	PROSPERO
low complexity region	1995	2017	N/A	INTRINSIC
low complexity region	2019	2041	N/A	INTRINSIC
low complexity region	2070	2086	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

unknown
Transcript: ENSMUST00000174805
AA Change: L1424F

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: L1424F

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	137	6.6e-53	PFAM
low complexity region	188	221	N/A	INTRINSIC
low complexity region	288	302	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
coiled coil region	400	439	N/A	INTRINSIC
low complexity region	449	468	N/A	INTRINSIC
low complexity region	472	511	N/A	INTRINSIC
low complexity region	538	563	N/A	INTRINSIC
low complexity region	588	629	N/A	INTRINSIC
low complexity region	632	654	N/A	INTRINSIC
low complexity region	656	662	N/A	INTRINSIC
low complexity region	700	713	N/A	INTRINSIC
low complexity region	771	778	N/A	INTRINSIC
low complexity region	806	816	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	847	869	N/A	INTRINSIC
low complexity region	889	911	N/A	INTRINSIC
low complexity region	977	1015	N/A	INTRINSIC
low complexity region	1074	1094	N/A	INTRINSIC
low complexity region	1107	1124	N/A	INTRINSIC
low complexity region	1135	1156	N/A	INTRINSIC
low complexity region	1179	1187	N/A	INTRINSIC
low complexity region	1230	1245	N/A	INTRINSIC
low complexity region	1291	1305	N/A	INTRINSIC
low complexity region	1339	1369	N/A	INTRINSIC
low complexity region	1375	1401	N/A	INTRINSIC
low complexity region	1433	1456	N/A	INTRINSIC
low complexity region	1498	1510	N/A	INTRINSIC
low complexity region	1638	1658	N/A	INTRINSIC
internal_repeat_1	1755	1804	3.99e-5	PROSPERO
low complexity region	1823	1839	N/A	INTRINSIC
internal_repeat_1	1868	1927	3.99e-5	PROSPERO
low complexity region	1939	1961	N/A	INTRINSIC
low complexity region	1963	1985	N/A	INTRINSIC
low complexity region	2014	2030	N/A	INTRINSIC

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	Het

Other mutations in Prrc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Prrc2a	APN	17	35,373,959 (GRCm39)	missense	probably damaging	0.99
IGL01083:Prrc2a	APN	17	35,375,177 (GRCm39)	missense	possibly damaging	0.93
IGL01394:Prrc2a	APN	17	35,372,080 (GRCm39)	missense	probably benign	0.00
IGL01618:Prrc2a	APN	17	35,368,529 (GRCm39)	missense	probably damaging	1.00
IGL01700:Prrc2a	APN	17	35,369,643 (GRCm39)	missense	possibly damaging	0.93
IGL01937:Prrc2a	APN	17	35,374,567 (GRCm39)	missense	possibly damaging	0.63
IGL02407:Prrc2a	APN	17	35,379,480 (GRCm39)	missense	unknown
IGL02683:Prrc2a	APN	17	35,374,969 (GRCm39)	missense	probably benign	0.00
R0145:Prrc2a	UTSW	17	35,374,796 (GRCm39)	missense	probably benign
R0309:Prrc2a	UTSW	17	35,369,891 (GRCm39)	splice site	probably benign
R0441:Prrc2a	UTSW	17	35,368,664 (GRCm39)	splice site	probably benign
R0617:Prrc2a	UTSW	17	35,372,536 (GRCm39)	missense	probably damaging	1.00
R0645:Prrc2a	UTSW	17	35,375,308 (GRCm39)	missense	probably damaging	0.99
R1351:Prrc2a	UTSW	17	35,376,863 (GRCm39)	missense	possibly damaging	0.86
R1432:Prrc2a	UTSW	17	35,372,888 (GRCm39)	splice site	probably benign
R1490:Prrc2a	UTSW	17	35,372,230 (GRCm39)	missense	probably benign
R1643:Prrc2a	UTSW	17	35,375,930 (GRCm39)	missense	probably damaging	0.99
R1734:Prrc2a	UTSW	17	35,369,683 (GRCm39)	missense	possibly damaging	0.93
R1869:Prrc2a	UTSW	17	35,372,284 (GRCm39)	missense	possibly damaging	0.93
R1937:Prrc2a	UTSW	17	35,376,884 (GRCm39)	missense	probably damaging	0.99
R1995:Prrc2a	UTSW	17	35,376,405 (GRCm39)	missense	probably damaging	0.98
R2257:Prrc2a	UTSW	17	35,380,044 (GRCm39)	missense	unknown
R2270:Prrc2a	UTSW	17	35,368,512 (GRCm39)	missense	possibly damaging	0.91
R3940:Prrc2a	UTSW	17	35,376,474 (GRCm39)	missense	possibly damaging	0.86
R3973:Prrc2a	UTSW	17	35,376,908 (GRCm39)	missense	probably damaging	0.99
R4569:Prrc2a	UTSW	17	35,377,473 (GRCm39)	missense	unknown
R4655:Prrc2a	UTSW	17	35,374,590 (GRCm39)	missense	probably benign	0.00
R4792:Prrc2a	UTSW	17	35,375,463 (GRCm39)	missense	probably damaging	0.96
R4797:Prrc2a	UTSW	17	35,369,018 (GRCm39)	missense	probably damaging	1.00
R4798:Prrc2a	UTSW	17	35,369,018 (GRCm39)	missense	probably damaging	1.00
R4799:Prrc2a	UTSW	17	35,369,018 (GRCm39)	missense	probably damaging	1.00
R5004:Prrc2a	UTSW	17	35,368,974 (GRCm39)	missense	probably benign	0.11
R5129:Prrc2a	UTSW	17	35,379,154 (GRCm39)	missense	unknown
R5155:Prrc2a	UTSW	17	35,379,067 (GRCm39)	splice site	probably null
R5210:Prrc2a	UTSW	17	35,372,596 (GRCm39)	missense	probably damaging	0.99
R5308:Prrc2a	UTSW	17	35,380,023 (GRCm39)	missense	unknown
R5474:Prrc2a	UTSW	17	35,378,189 (GRCm39)	missense	unknown
R5775:Prrc2a	UTSW	17	35,377,463 (GRCm39)	missense	unknown
R5934:Prrc2a	UTSW	17	35,369,060 (GRCm39)	missense	probably damaging	0.98
R6057:Prrc2a	UTSW	17	35,371,716 (GRCm39)	missense	probably benign	0.00
R6535:Prrc2a	UTSW	17	35,381,241 (GRCm39)	missense	unknown
R6622:Prrc2a	UTSW	17	35,374,396 (GRCm39)	missense	probably damaging	0.98
R6887:Prrc2a	UTSW	17	35,374,651 (GRCm39)	missense	probably damaging	0.99
R6971:Prrc2a	UTSW	17	35,378,477 (GRCm39)	splice site	probably null
R7026:Prrc2a	UTSW	17	35,380,803 (GRCm39)	missense	unknown
R7059:Prrc2a	UTSW	17	35,376,364 (GRCm39)	missense	probably damaging	0.99
R7489:Prrc2a	UTSW	17	35,381,330 (GRCm39)	missense	unknown
R7502:Prrc2a	UTSW	17	35,381,286 (GRCm39)	missense	unknown
R7951:Prrc2a	UTSW	17	35,379,477 (GRCm39)	missense	unknown
R8061:Prrc2a	UTSW	17	35,380,162 (GRCm39)	splice site	probably benign
R8324:Prrc2a	UTSW	17	35,375,960 (GRCm39)	missense	possibly damaging	0.46
R8705:Prrc2a	UTSW	17	35,372,542 (GRCm39)	missense	possibly damaging	0.92
R9016:Prrc2a	UTSW	17	35,378,844 (GRCm39)	missense	unknown
R9310:Prrc2a	UTSW	17	35,374,975 (GRCm39)	missense	probably benign	0.38
R9376:Prrc2a	UTSW	17	35,369,598 (GRCm39)	missense	possibly damaging	0.85
R9645:Prrc2a	UTSW	17	35,381,176 (GRCm39)	critical splice donor site	probably null
R9703:Prrc2a	UTSW	17	35,378,320 (GRCm39)	missense	unknown
X0011:Prrc2a	UTSW	17	35,374,874 (GRCm39)	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35,380,336 (GRCm39)	missense	unknown
Z1177:Prrc2a	UTSW	17	35,374,676 (GRCm39)	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35,373,791 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGCACTTGACCTTTGGGGATG -3'
(R):5'- TGCTAGTAGTGAAGCGACAG -3'

Sequencing Primer
(F):5'- ATGGAGTCATTCCCACCCG -3'
(R):5'- GCGACAGTAGATGCTTGACTTAC -3'

Posted On

2018-03-15