Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Prrc2a'

368719

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

MMRRC Submission

042419-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R4792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35368052-35383873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35375463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1062 (D1062E)

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: D1062E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: D1062E

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: ENSMUST00000172929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

unknown
Transcript: ENSMUST00000174805
AA Change: D1007E

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: D1007E

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	G	16: 88,504,651 (GRCm39)	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,796,657 (GRCm39)		probably null	Het
Adgb	G	A	10: 10,274,647 (GRCm39)	T770I	probably damaging	Het
Adgre4	A	T	17: 56,098,491 (GRCm39)	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Alox5	C	A	6: 116,437,964 (GRCm39)	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,603,191 (GRCm39)	T392A	possibly damaging	Het
Apob	A	G	12: 8,058,051 (GRCm39)	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,625,717 (GRCm39)	Y196H	possibly damaging	Het
Armh2	A	G	13: 24,930,490 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,251,173 (GRCm39)	L439S	probably damaging	Het
Carmil1	A	T	13: 24,325,659 (GRCm39)	S224T	possibly damaging	Het
Cfh	G	A	1: 140,028,561 (GRCm39)	Q706*	probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Chrna5	A	T	9: 54,911,985 (GRCm39)	I158F	probably damaging	Het
Cilk1	A	G	9: 78,060,975 (GRCm39)	D207G	probably damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cul7	T	A	17: 46,967,976 (GRCm39)	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,353,588 (GRCm39)	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,125,275 (GRCm39)	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,066,651 (GRCm39)	M2573T	probably damaging	Het
Dnai4	T	C	4: 102,929,881 (GRCm39)	K370R	possibly damaging	Het
Edem1	T	A	6: 108,805,707 (GRCm39)		probably benign	Het
Erp29	C	T	5: 121,585,237 (GRCm39)	E86K	probably benign	Het
Esrp2	C	A	8: 106,859,141 (GRCm39)	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,420,330 (GRCm39)		probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Herc1	T	A	9: 66,403,266 (GRCm39)	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgb2	G	A	8: 57,966,344 (GRCm39)	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,209,481 (GRCm39)		probably benign	Het
Hsd3b1	T	A	3: 98,760,226 (GRCm39)	Y255F	probably benign	Het
Ighd	T	C	12: 113,379,819 (GRCm39)	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,752,191 (GRCm39)	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,542,419 (GRCm39)	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,970,668 (GRCm39)		probably benign	Het
Itk	C	T	11: 46,235,658 (GRCm39)		probably benign	Het
Kat6a	T	A	8: 23,430,592 (GRCm39)	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,374,686 (GRCm39)	V391I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgr6	T	A	1: 134,949,544 (GRCm39)	S229C	probably benign	Het
Lhx9	T	A	1: 138,766,089 (GRCm39)	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mapk4	T	C	18: 74,070,321 (GRCm39)	T191A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naglu	C	T	11: 100,961,932 (GRCm39)	T135M	probably damaging	Het
Nomo1	T	A	7: 45,693,643 (GRCm39)		probably null	Het
Nop56	T	A	2: 130,119,784 (GRCm39)	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,046,164 (GRCm39)	C283Y	probably damaging	Het
Or4x6	T	A	2: 89,949,174 (GRCm39)	Y256F	possibly damaging	Het
Or51d1	G	A	7: 102,347,933 (GRCm39)	G163R	probably damaging	Het
Or6c38	T	G	10: 128,929,489 (GRCm39)	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,802,452 (GRCm39)	S99G	probably benign	Het
Pcnx1	T	A	12: 81,965,925 (GRCm39)	D697E	probably damaging	Het
Plxnb1	G	A	9: 108,939,716 (GRCm39)	D1462N	probably damaging	Het
Pnn	G	T	12: 59,118,991 (GRCm39)	V525F	possibly damaging	Het
Prss35	T	A	9: 86,637,722 (GRCm39)	V164E	probably damaging	Het
Psapl1	T	C	5: 36,362,547 (GRCm39)	S380P	probably benign	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,874,135 (GRCm39)	T79A	probably damaging	Het
Sbf2	T	C	7: 109,950,817 (GRCm39)	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,556,592 (GRCm39)	D331G	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sspo	G	A	6: 48,438,519 (GRCm39)	S1529N	probably benign	Het
St8sia3	T	A	18: 64,398,634 (GRCm39)	V31E	probably benign	Het
Sult1b1	A	T	5: 87,662,906 (GRCm39)	W265R	probably damaging	Het
Supt5	G	T	7: 28,015,754 (GRCm39)	Q863K	probably benign	Het
Tbc1d31	A	G	15: 57,804,124 (GRCm39)	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,577,845 (GRCm39)	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tpx2	A	T	2: 152,727,016 (GRCm39)	T428S	probably damaging	Het
Trip11	A	T	12: 101,851,705 (GRCm39)	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,615 (GRCm39)	M322L	probably benign	Het
Try10	T	C	6: 41,332,386 (GRCm39)	V14A	probably benign	Het
Unc13d	A	T	11: 115,961,108 (GRCm39)	F416L	probably damaging	Het
Vmn2r75	A	T	7: 85,812,378 (GRCm39)	M547K	possibly damaging	Het
Zbp1	A	G	2: 173,051,006 (GRCm39)	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,568,436 (GRCm39)	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,396,008 (GRCm39)	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,578,078 (GRCm39)	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,128 (GRCm39)	Y82*	probably null	Het
Zfp964	T	C	8: 70,116,665 (GRCm39)	F422L	probably benign	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
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
R6291:Prrc2a	UTSW	17	35,373,909 (GRCm39)	missense	probably damaging	0.99
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'- GACCAAGCACTCCCTCTTTG -3'
(R):5'- AGGTGGAAACCTGTCTCCTG -3'

Sequencing Primer
(F):5'- AGGGGCTTCCTTGTCAGAG -3'
(R):5'- GGAAACCTGTCTCCTGCACCTAG -3'

Posted On

2016-02-04