Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Prrc2a'

92445

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prrc2a

Ensembl Gene

ENSMUSG00000024393

Gene Name

proline-rich coiled-coil 2A

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

35149076-35164897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35149553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2098 (Y2098C)

Ref Sequence

ENSEMBL: ENSMUSP00000025253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000025253] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173550] [ENSMUST00000174281] [ENSMUST00000174805]

AlphaFold

Q7TSC1

Predicted Effect

probably benign
Transcript: ENSMUST00000025250

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	220	239	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
Pfam:DUF3538	277	393	1.7e-44	PFAM
low complexity region	427	438	N/A	INTRINSIC
low complexity region	557	625	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC
low complexity region	673	721	N/A	INTRINSIC
low complexity region	725	747	N/A	INTRINSIC
low complexity region	765	780	N/A	INTRINSIC
low complexity region	798	808	N/A	INTRINSIC
low complexity region	1029	1042	N/A	INTRINSIC
low complexity region	1088	1098	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000025253
AA Change: Y2098C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: Y2098C

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

probably benign
Transcript: ENSMUST00000166426

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
Pfam:DUF3538	259	375	3.7e-53	PFAM
low complexity region	409	420	N/A	INTRINSIC
low complexity region	539	607	N/A	INTRINSIC
low complexity region	614	630	N/A	INTRINSIC
low complexity region	655	703	N/A	INTRINSIC
low complexity region	707	729	N/A	INTRINSIC
low complexity region	747	762	N/A	INTRINSIC
low complexity region	780	790	N/A	INTRINSIC
low complexity region	1011	1024	N/A	INTRINSIC
low complexity region	1070	1080	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172571

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	252	N/A	INTRINSIC
Pfam:DUF3538	254	370	3.5e-53	PFAM
low complexity region	404	415	N/A	INTRINSIC
low complexity region	534	602	N/A	INTRINSIC
low complexity region	609	625	N/A	INTRINSIC
low complexity region	650	698	N/A	INTRINSIC
low complexity region	702	724	N/A	INTRINSIC
low complexity region	742	757	N/A	INTRINSIC
low complexity region	775	785	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172899

Predicted Effect

probably benign
Transcript: ENSMUST00000172993

Predicted Effect

probably benign
Transcript: ENSMUST00000173550

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
Pfam:DUF3538	259	375	3.7e-53	PFAM
low complexity region	409	420	N/A	INTRINSIC
low complexity region	496	511	N/A	INTRINSIC
low complexity region	574	642	N/A	INTRINSIC
low complexity region	649	665	N/A	INTRINSIC
low complexity region	690	738	N/A	INTRINSIC
low complexity region	742	764	N/A	INTRINSIC
low complexity region	782	797	N/A	INTRINSIC
low complexity region	815	825	N/A	INTRINSIC
low complexity region	1046	1059	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173558

Predicted Effect

probably benign
Transcript: ENSMUST00000174281

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	220	239	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
Pfam:DUF3538	277	393	3.6e-53	PFAM
low complexity region	427	438	N/A	INTRINSIC
low complexity region	514	529	N/A	INTRINSIC
low complexity region	592	660	N/A	INTRINSIC
low complexity region	667	683	N/A	INTRINSIC
low complexity region	708	756	N/A	INTRINSIC
low complexity region	760	782	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
low complexity region	833	843	N/A	INTRINSIC
low complexity region	1064	1077	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

unknown
Transcript: ENSMUST00000174805
AA Change: Y2042C

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: Y2042C

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Prrc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Prrc2a	APN	17	35154983	missense	probably damaging	0.99
IGL01083:Prrc2a	APN	17	35156201	missense	possibly damaging	0.93
IGL01394:Prrc2a	APN	17	35153104	missense	probably benign	0.00
IGL01700:Prrc2a	APN	17	35150667	missense	possibly damaging	0.93
IGL01937:Prrc2a	APN	17	35155591	missense	possibly damaging	0.63
IGL02407:Prrc2a	APN	17	35160504	missense	unknown
IGL02683:Prrc2a	APN	17	35155993	missense	probably benign	0.00
R0145:Prrc2a	UTSW	17	35155820	missense	probably benign
R0309:Prrc2a	UTSW	17	35150915	splice site	probably benign
R0441:Prrc2a	UTSW	17	35149688	splice site	probably benign
R0617:Prrc2a	UTSW	17	35153560	missense	probably damaging	1.00
R0645:Prrc2a	UTSW	17	35156332	missense	probably damaging	0.99
R1351:Prrc2a	UTSW	17	35157887	missense	possibly damaging	0.86
R1432:Prrc2a	UTSW	17	35153912	splice site	probably benign
R1490:Prrc2a	UTSW	17	35153254	missense	probably benign
R1643:Prrc2a	UTSW	17	35156954	missense	probably damaging	0.99
R1734:Prrc2a	UTSW	17	35150707	missense	possibly damaging	0.93
R1869:Prrc2a	UTSW	17	35153308	missense	possibly damaging	0.93
R1937:Prrc2a	UTSW	17	35157908	missense	probably damaging	0.99
R1995:Prrc2a	UTSW	17	35157429	missense	probably damaging	0.98
R2257:Prrc2a	UTSW	17	35161068	missense	unknown
R2270:Prrc2a	UTSW	17	35149536	missense	possibly damaging	0.91
R3940:Prrc2a	UTSW	17	35157498	missense	possibly damaging	0.86
R3973:Prrc2a	UTSW	17	35157932	missense	probably damaging	0.99
R4569:Prrc2a	UTSW	17	35158497	missense	unknown
R4655:Prrc2a	UTSW	17	35155614	missense	probably benign	0.00
R4792:Prrc2a	UTSW	17	35156487	missense	probably damaging	0.96
R4797:Prrc2a	UTSW	17	35150042	missense	probably damaging	1.00
R4798:Prrc2a	UTSW	17	35150042	missense	probably damaging	1.00
R4799:Prrc2a	UTSW	17	35150042	missense	probably damaging	1.00
R5004:Prrc2a	UTSW	17	35149998	missense	probably benign	0.11
R5129:Prrc2a	UTSW	17	35160178	missense	unknown
R5155:Prrc2a	UTSW	17	35160091	splice site	probably null
R5210:Prrc2a	UTSW	17	35153620	missense	probably damaging	0.99
R5308:Prrc2a	UTSW	17	35161047	missense	unknown
R5474:Prrc2a	UTSW	17	35159213	missense	unknown
R5775:Prrc2a	UTSW	17	35158487	missense	unknown
R5934:Prrc2a	UTSW	17	35150084	missense	probably damaging	0.98
R6057:Prrc2a	UTSW	17	35152740	missense	probably benign	0.00
R6291:Prrc2a	UTSW	17	35154933	missense	probably damaging	0.99
R6535:Prrc2a	UTSW	17	35162265	missense	unknown
R6622:Prrc2a	UTSW	17	35155420	missense	probably damaging	0.98
R6887:Prrc2a	UTSW	17	35155675	missense	probably damaging	0.99
R6971:Prrc2a	UTSW	17	35159501	splice site	probably null
R7026:Prrc2a	UTSW	17	35161827	missense	unknown
R7059:Prrc2a	UTSW	17	35157388	missense	probably damaging	0.99
R7489:Prrc2a	UTSW	17	35162354	missense	unknown
R7502:Prrc2a	UTSW	17	35162310	missense	unknown
R7951:Prrc2a	UTSW	17	35160501	missense	unknown
R8061:Prrc2a	UTSW	17	35161186	splice site	probably benign
R8324:Prrc2a	UTSW	17	35156984	missense	possibly damaging	0.46
R8705:Prrc2a	UTSW	17	35153566	missense	possibly damaging	0.92
R9016:Prrc2a	UTSW	17	35159868	missense	unknown
R9310:Prrc2a	UTSW	17	35155999	missense	probably benign	0.38
R9376:Prrc2a	UTSW	17	35150622	missense	possibly damaging	0.85
R9645:Prrc2a	UTSW	17	35162200	critical splice donor site	probably null
R9703:Prrc2a	UTSW	17	35159344	missense	unknown
X0011:Prrc2a	UTSW	17	35155898	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35154815	missense	probably damaging	0.98
Z1177:Prrc2a	UTSW	17	35155700	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35161360	missense	unknown

Posted On

2013-12-09