Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Prrc2a'

199598

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

039766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35368052-35383873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35369683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1877 (S1877P)

Ref Sequence

ENSEMBL: ENSMUSP00000025253 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000025253
AA Change: S1877P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: S1877P

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

unknown
Transcript: ENSMUST00000174805
AA Change: S1821P

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: S1821P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173558

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

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

Meta Mutation Damage Score

0.1622

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	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
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
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'- CCAGTGAGCCCATTAGAACAGGAAG -3'
(R):5'- GCACCCATCGACTCTCAGTTACATC -3'

Sequencing Primer
(F):5'- CAGATCCTGGCGTACCTGTTG -3'
(R):5'- TCAGTTACATCCCAACAGTGGAG -3'

Posted On

2014-05-23