Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Prrc2a'

213601

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

039955-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R1937 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

35368052-35383873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35376884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 742 (D742G)

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: D742G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: D742G

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: ENSMUST00000082919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174805
AA Change: D687G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: D687G

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly damaging	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
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
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'- GGATCACTACCTCTTCCCCAAG -3'
(R):5'- TCTTGTCTCATTACTTGCAGGAGC -3'

Sequencing Primer
(F):5'- TTCCCCAAGCCTATTCTCACAAG -3'
(R):5'- TCCTGAAGCAGCAGCAGC -3'

Posted On

2014-07-14