Mutagenetix > Incidental Mutation

Incidental Mutation 'R5210:Prrc2a'

403109

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R5210 (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 35153620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1682 (R1682W)

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: R1682W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: R1682W

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: ENSMUST00000172899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174386

Predicted Effect

unknown
Transcript: ENSMUST00000174805
AA Change: R1627W

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: R1627W

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (40/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,068,110 (GRCm38)	I399V	probably benign	Het
4932438A13Rik	T	C	3: 37,033,265 (GRCm38)	V710A	possibly damaging	Het
Ablim2	T	A	5: 35,837,072 (GRCm38)	V342E	probably benign	Het
Adgre4	T	A	17: 55,785,029 (GRCm38)	N96K	probably damaging	Het
Ccdc171	A	G	4: 83,554,856 (GRCm38)	E174G	probably damaging	Het
Col11a1	T	C	3: 114,153,157 (GRCm38)	F1026S	probably damaging	Het
Coro1c	A	G	5: 113,845,306 (GRCm38)	L387P	probably damaging	Het
Dsg1c	C	T	18: 20,274,701 (GRCm38)	T368I	probably damaging	Het
Exoc3l4	C	A	12: 111,428,841 (GRCm38)		probably benign	Het
Extl1	T	C	4: 134,360,584 (GRCm38)	D453G	probably benign	Het
Gm21136	T	C	7: 38,867,741 (GRCm38)		noncoding transcript	Het
Hist1h3d	G	T	13: 23,575,841 (GRCm38)	G14C	possibly damaging	Het
Ifi208	T	C	1: 173,683,265 (GRCm38)	S329P	probably benign	Het
Iscu	T	A	5: 113,776,973 (GRCm38)	L182*	probably null	Het
Klra6	T	A	6: 130,018,892 (GRCm38)	K168*	probably null	Het
Map3k5	T	C	10: 20,024,901 (GRCm38)	S274P	possibly damaging	Het
Megf6	G	T	4: 154,269,816 (GRCm38)		probably benign	Het
Mmp12	T	A	9: 7,349,729 (GRCm38)	Y53*	probably null	Het
Nucb2	T	A	7: 116,528,987 (GRCm38)	Y278N	probably damaging	Het
Numa1	C	A	7: 101,999,981 (GRCm38)	A973E	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,052 (GRCm38)	Y120F	probably damaging	Het
Olfr1487	A	G	19: 13,619,399 (GRCm38)	K79R	probably damaging	Het
Olfr830	T	A	9: 18,875,807 (GRCm38)	L157Q	probably damaging	Het
Olfr99	C	A	17: 37,279,933 (GRCm38)	K162N	probably benign	Het
Pcdhga3	C	A	18: 37,675,910 (GRCm38)	T472K	probably benign	Het
Pclo	A	G	5: 14,713,450 (GRCm38)	D694G	probably damaging	Het
Plch1	A	G	3: 63,699,778 (GRCm38)		probably null	Het
Pou3f2	C	T	4: 22,487,324 (GRCm38)	D270N	probably damaging	Het
Rb1	A	G	14: 73,199,311 (GRCm38)	F838S	probably damaging	Het
Sec24c	A	G	14: 20,691,804 (GRCm38)	E769G	probably damaging	Het
Slc45a2	C	T	15: 11,027,785 (GRCm38)	T480I	probably damaging	Het
Tmem63c	A	T	12: 87,089,398 (GRCm38)	E796V	probably benign	Het
Tomm70a	G	A	16: 57,133,251 (GRCm38)		probably null	Het
Tpcn1	G	A	5: 120,539,214 (GRCm38)	T676I	probably damaging	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het

Other mutations in Prrc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Prrc2a	APN	17	35,154,983 (GRCm38)	missense	probably damaging	0.99
IGL01083:Prrc2a	APN	17	35,156,201 (GRCm38)	missense	possibly damaging	0.93
IGL01394:Prrc2a	APN	17	35,153,104 (GRCm38)	missense	probably benign	0.00
IGL01618:Prrc2a	APN	17	35,149,553 (GRCm38)	missense	probably damaging	1.00
IGL01700:Prrc2a	APN	17	35,150,667 (GRCm38)	missense	possibly damaging	0.93
IGL01937:Prrc2a	APN	17	35,155,591 (GRCm38)	missense	possibly damaging	0.63
IGL02407:Prrc2a	APN	17	35,160,504 (GRCm38)	missense	unknown
IGL02683:Prrc2a	APN	17	35,155,993 (GRCm38)	missense	probably benign	0.00
R0145:Prrc2a	UTSW	17	35,155,820 (GRCm38)	missense	probably benign
R0309:Prrc2a	UTSW	17	35,150,915 (GRCm38)	splice site	probably benign
R0441:Prrc2a	UTSW	17	35,149,688 (GRCm38)	splice site	probably benign
R0617:Prrc2a	UTSW	17	35,153,560 (GRCm38)	missense	probably damaging	1.00
R0645:Prrc2a	UTSW	17	35,156,332 (GRCm38)	missense	probably damaging	0.99
R1351:Prrc2a	UTSW	17	35,157,887 (GRCm38)	missense	possibly damaging	0.86
R1432:Prrc2a	UTSW	17	35,153,912 (GRCm38)	splice site	probably benign
R1490:Prrc2a	UTSW	17	35,153,254 (GRCm38)	missense	probably benign
R1643:Prrc2a	UTSW	17	35,156,954 (GRCm38)	missense	probably damaging	0.99
R1734:Prrc2a	UTSW	17	35,150,707 (GRCm38)	missense	possibly damaging	0.93
R1869:Prrc2a	UTSW	17	35,153,308 (GRCm38)	missense	possibly damaging	0.93
R1937:Prrc2a	UTSW	17	35,157,908 (GRCm38)	missense	probably damaging	0.99
R1995:Prrc2a	UTSW	17	35,157,429 (GRCm38)	missense	probably damaging	0.98
R2257:Prrc2a	UTSW	17	35,161,068 (GRCm38)	missense	unknown
R2270:Prrc2a	UTSW	17	35,149,536 (GRCm38)	missense	possibly damaging	0.91
R3940:Prrc2a	UTSW	17	35,157,498 (GRCm38)	missense	possibly damaging	0.86
R3973:Prrc2a	UTSW	17	35,157,932 (GRCm38)	missense	probably damaging	0.99
R4569:Prrc2a	UTSW	17	35,158,497 (GRCm38)	missense	unknown
R4655:Prrc2a	UTSW	17	35,155,614 (GRCm38)	missense	probably benign	0.00
R4792:Prrc2a	UTSW	17	35,156,487 (GRCm38)	missense	probably damaging	0.96
R4797:Prrc2a	UTSW	17	35,150,042 (GRCm38)	missense	probably damaging	1.00
R4798:Prrc2a	UTSW	17	35,150,042 (GRCm38)	missense	probably damaging	1.00
R4799:Prrc2a	UTSW	17	35,150,042 (GRCm38)	missense	probably damaging	1.00
R5004:Prrc2a	UTSW	17	35,149,998 (GRCm38)	missense	probably benign	0.11
R5129:Prrc2a	UTSW	17	35,160,178 (GRCm38)	missense	unknown
R5155:Prrc2a	UTSW	17	35,160,091 (GRCm38)	splice site	probably null
R5308:Prrc2a	UTSW	17	35,161,047 (GRCm38)	missense	unknown
R5474:Prrc2a	UTSW	17	35,159,213 (GRCm38)	missense	unknown
R5775:Prrc2a	UTSW	17	35,158,487 (GRCm38)	missense	unknown
R5934:Prrc2a	UTSW	17	35,150,084 (GRCm38)	missense	probably damaging	0.98
R6057:Prrc2a	UTSW	17	35,152,740 (GRCm38)	missense	probably benign	0.00
R6291:Prrc2a	UTSW	17	35,154,933 (GRCm38)	missense	probably damaging	0.99
R6535:Prrc2a	UTSW	17	35,162,265 (GRCm38)	missense	unknown
R6622:Prrc2a	UTSW	17	35,155,420 (GRCm38)	missense	probably damaging	0.98
R6887:Prrc2a	UTSW	17	35,155,675 (GRCm38)	missense	probably damaging	0.99
R6971:Prrc2a	UTSW	17	35,159,501 (GRCm38)	splice site	probably null
R7026:Prrc2a	UTSW	17	35,161,827 (GRCm38)	missense	unknown
R7059:Prrc2a	UTSW	17	35,157,388 (GRCm38)	missense	probably damaging	0.99
R7489:Prrc2a	UTSW	17	35,162,354 (GRCm38)	missense	unknown
R7502:Prrc2a	UTSW	17	35,162,310 (GRCm38)	missense	unknown
R7951:Prrc2a	UTSW	17	35,160,501 (GRCm38)	missense	unknown
R8061:Prrc2a	UTSW	17	35,161,186 (GRCm38)	splice site	probably benign
R8324:Prrc2a	UTSW	17	35,156,984 (GRCm38)	missense	possibly damaging	0.46
R8705:Prrc2a	UTSW	17	35,153,566 (GRCm38)	missense	possibly damaging	0.92
R9016:Prrc2a	UTSW	17	35,159,868 (GRCm38)	missense	unknown
R9310:Prrc2a	UTSW	17	35,155,999 (GRCm38)	missense	probably benign	0.38
R9376:Prrc2a	UTSW	17	35,150,622 (GRCm38)	missense	possibly damaging	0.85
R9645:Prrc2a	UTSW	17	35,162,200 (GRCm38)	critical splice donor site	probably null
R9703:Prrc2a	UTSW	17	35,159,344 (GRCm38)	missense	unknown
X0011:Prrc2a	UTSW	17	35,155,898 (GRCm38)	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35,161,360 (GRCm38)	missense	unknown
Z1177:Prrc2a	UTSW	17	35,155,700 (GRCm38)	missense	probably damaging	0.99
Z1177:Prrc2a	UTSW	17	35,154,815 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAGCTCCTAGATTGGGAAAC -3'
(R):5'- AGGCCGTTCTCTTGGAATTG -3'

Sequencing Primer
(F):5'- CTCCTAGATTGGGAAACAAAGTG -3'
(R):5'- CTCTGTTGGTATGTGACACTTCTCAG -3'

Posted On

2016-07-22