Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Prrc2a'

642064

Institutional Source

Beutler Lab

Gene Symbol

Prrc2a

Ensembl Gene

ENSMUSG00000024393

Gene Name

proline-rich coiled-coil 2A

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35149076-35164897 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 35161186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133550 (fasta)

Gene Model

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

AlphaFold

Q7TSC1

Predicted Effect

probably benign
Transcript: ENSMUST00000025253

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393

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: ENSMUST00000174805

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	G	9: 8,042,671	W37R	probably damaging	Het
Acads	G	A	5: 115,117,651	R42C	probably benign	Het
Agrn	G	A	4: 156,178,954	R338C	probably damaging	Het
Anapc1	T	C	2: 128,648,488	E1008G	probably damaging	Het
Art5	A	T	7: 102,098,249	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,740,543	C369Y	probably damaging	Het
Asb3	A	G	11: 30,998,447	N41S	probably damaging	Het
Astn1	G	A	1: 158,504,350		probably null	Het
Asxl3	T	A	18: 22,524,243	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,946,220		probably benign	Het
Chrm1	T	C	19: 8,679,154	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,405,171	H374R	probably damaging	Het
Cnot1	A	G	8: 95,765,027	F390L	possibly damaging	Het
Comt	T	C	16: 18,411,290	Y100C	probably benign	Het
Dclk2	T	C	3: 86,813,674		probably benign	Het
Dicer1	G	A	12: 104,702,818	Q1202*	probably null	Het
Disp1	C	T	1: 183,087,587	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,617,170	D62G	possibly damaging	Het
Dock1	C	T	7: 134,772,323	T566I	probably benign	Het
Dopey1	T	G	9: 86,521,193	M18R	possibly damaging	Het
Dopey2	T	C	16: 93,749,996	L296P	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab3	A	T	11: 105,106,449	D155V	probably benign	Het
Ehmt2	T	C	17: 34,905,927	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,047,658	W301*	probably null	Het
Fam49a	G	T	12: 12,362,027	A150S	possibly damaging	Het
Fpgt	A	G	3: 155,087,266	S375P	probably benign	Het
Gas2l1	G	A	11: 5,061,785	S348F	possibly damaging	Het
Gen1	A	T	12: 11,261,076		probably benign	Het
Gm16486	A	G	8: 70,708,575	E139G	probably benign	Het
Ice1	A	T	13: 70,603,732	C1412S	probably damaging	Het
Klhl2	A	C	8: 64,758,223	L264V	probably damaging	Het
Lars2	A	G	9: 123,459,497	T803A	probably benign	Het
Ldb2	T	A	5: 44,480,270	K232M	probably damaging	Het
Lix1	G	A	17: 17,443,676	R92Q	probably damaging	Het
Meig1	C	T	2: 3,409,203	V87I	not run	Het
Mitf	A	C	6: 97,993,298	S176R	probably damaging	Het
Myh7	A	G	14: 54,990,941	V236A	probably benign	Het
Myo5a	T	A	9: 75,122,957	Y119*	probably null	Het
Ncapg2	A	G	12: 116,426,577	N382S	probably benign	Het
Neu2	C	T	1: 87,596,911	P206L	probably damaging	Het
Olfr753-ps1	A	G	17: 37,169,901	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,702,724	R454Q	probably benign	Het
Panx1	A	G	9: 15,045,001	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,503,972	D413G	probably benign	Het
Plcb1	A	T	2: 135,346,396	Y803F	probably benign	Het
Pth2r	T	A	1: 65,343,501	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,691,600		probably null	Het
Rapgef3	T	C	15: 97,761,520	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492	N907S	probably damaging	Het
Scn7a	T	A	2: 66,692,594	N922I	probably damaging	Het
Shprh	T	C	10: 11,212,333	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,111,045	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,828,911	I63M	probably damaging	Het
Smg1	A	T	7: 118,152,387	V2817E	unknown	Het
Sprr3	T	C	3: 92,456,877	E220G	probably damaging	Het
Tcf21	T	C	10: 22,819,863	E14G	probably benign	Het
Tenm4	A	G	7: 96,852,456	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,492,103	G551V	probably damaging	Het
Tpk1	A	G	6: 43,346,844	S224P	probably damaging	Het
Trib1	T	C	15: 59,651,555	I146T	probably damaging	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	Het
Vcan	T	A	13: 89,657,290	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,395,283	Y85*	probably null	Het
Vps39	T	C	2: 120,344,211	I97V	probably benign	Het
Zan	T	A	5: 137,436,631	I2167F	unknown	Het
Zfp37	A	T	4: 62,191,428	Y507*	probably null	Het
Zfp39	A	G	11: 58,902,747	V55A	probably benign	Het
Zfp616	A	T	11: 74,083,514	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,620,089	T674A	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
IGL01618:Prrc2a	APN	17	35149553	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGTGCACCACTTCAAGC -3'
(R):5'- GAGAGGAATTTCCGACCCTG -3'

Sequencing Primer
(F):5'- GTGCACCACTTCAAGCAACAC -3'
(R):5'- AATTTCCGACCCTGCAGGC -3'

Posted On

2020-07-30