Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Prrc2a'

342038

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

041793-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35149076-35164897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35158497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 562 (P562S)

Ref Sequence

ENSEMBL: ENSMUSP00000133550 (fasta)

Gene Model

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

AlphaFold

Q7TSC1

Predicted Effect

unknown
Transcript: ENSMUST00000025253
AA Change: P617S

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: P617S

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

unknown
Transcript: ENSMUST00000174805
AA Change: P562S

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: P562S

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

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,625,838	T322A	probably benign	Het
Abhd13	C	T	8: 9,988,071	P223S	possibly damaging	Het
Adgra3	T	A	5: 49,960,563	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,789,312	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,849,544	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,976,373		probably benign	Het
Arid2	T	A	15: 96,392,462	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,609,207	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,986,000	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,151,910		probably null	Het
Cdk2ap2	T	C	19: 4,097,879	F49L	possibly damaging	Het
Cdon	A	T	9: 35,476,969	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,193,323	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,306,992	R508W	probably damaging	Het
Dclk1	T	C	3: 55,247,410	L87P	probably damaging	Het
Ddx41	G	A	13: 55,536,021	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,852,360	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,411,659	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,657,166		probably null	Het
Dph1	A	T	11: 75,178,895		probably benign	Het
Egln2	A	G	7: 27,159,583	I382T	probably damaging	Het
Enpp3	A	G	10: 24,776,882	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,181,477	F353L	probably damaging	Het
Fchsd2	G	A	7: 101,277,602	G657D	possibly damaging	Het
Fer1l4	T	A	2: 156,036,639	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,100,305	V149I	probably benign	Het
Glipr1l1	A	G	10: 112,062,412	M141V	probably benign	Het
Gnaq	T	C	19: 16,335,006	S211P	probably damaging	Het
Gnl1	A	G	17: 35,988,250	R527G	probably benign	Het
Gns	A	G	10: 121,381,178	Q286R	probably benign	Het
Gon4l	T	C	3: 88,910,090		probably benign	Het
Gpr107	T	C	2: 31,207,665		probably benign	Het
Gprasp1	C	T	X: 135,802,843	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,411,003	D124E	probably damaging	Het
Hbp1	T	A	12: 31,950,232		probably benign	Het
Hrnr	C	T	3: 93,323,568	T371I	unknown	Het
Ints2	A	G	11: 86,256,198	C41R	probably damaging	Het
Jhy	A	G	9: 40,911,093	I583T	probably benign	Het
Jph4	G	T	14: 55,115,046	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhl12	A	T	1: 134,485,769	I331F	probably benign	Het
Map4k4	G	A	1: 40,000,538	R30Q	probably damaging	Het
Mettl11b	T	A	1: 163,703,017	*284C	probably null	Het
Mgst1	C	A	6: 138,156,215	T176K	probably damaging	Het
Negr1	C	A	3: 157,208,376		probably benign	Het
Nrg1	C	T	8: 31,917,774	V144I	probably benign	Het
Olfr51	T	C	11: 51,007,554	I194T	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Pex11b	A	T	3: 96,644,014		probably benign	Het
Phtf2	T	C	5: 20,789,595		probably benign	Het
Ppip5k1	C	T	2: 121,343,563	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,422,342	I185V	probably benign	Het
Rdx	A	G	9: 52,068,841	I245V	probably benign	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rhob	T	G	12: 8,499,373	D87A	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sbf2	A	G	7: 110,348,853		probably null	Het
Sipa1l3	G	T	7: 29,325,862	P619Q	probably damaging	Het
Snupn	A	G	9: 56,978,062	E217G	probably benign	Het
Ston2	T	A	12: 91,639,722	*896C	probably null	Het
Stradb	C	T	1: 58,979,958	R13*	probably null	Het
Tbx21	G	A	11: 97,114,755	A128V	probably benign	Het
Tep1	A	T	14: 50,824,740	C2552S	probably benign	Het
Tgif1	A	T	17: 70,844,917	V233E	possibly damaging	Het
Trim31	A	T	17: 36,898,741	I130L	probably benign	Het
Trrap	C	T	5: 144,792,118	T614I	probably benign	Het
Ttn	C	A	2: 76,936,414	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,456,206	D322E	probably benign	Het
Unc45b	T	A	11: 82,936,489		probably null	Het
Usp43	A	T	11: 67,875,352	L744*	probably null	Het
Usp43	C	T	11: 67,898,962	C252Y	probably damaging	Het
Vmn2r71	A	C	7: 85,624,194	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,442,204	T653M	probably benign	Het
Wdr83os	T	A	8: 85,081,866	S82R	probably damaging	Het
Xpo6	T	A	7: 126,128,255	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,401,834	V2351I	probably benign	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGAACTGTGCTACAACAG -3'
(R):5'- GGATGGCCACTTATTCAGTTCG -3'

Sequencing Primer
(F):5'- CTGTGCTACAACAGAAAGACG -3'
(R):5'- GGCCACTTATTCAGTTCGTATTTTG -3'

Posted On

2015-09-24