Mutagenetix > Incidental Mutation

Incidental Mutation 'R8705:Prrc2a'

669250

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 #

R8705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35149076-35164897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35153566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1700 (S1700P)

Ref Sequence

ENSEMBL: ENSMUSP00000025253 (fasta)

Gene Model

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

AlphaFold

Q7TSC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025253
AA Change: S1700P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: S1700P

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

unknown
Transcript: ENSMUST00000174805
AA Change: S1645P

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: S1645P

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (36/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	T	13: 4,434,448	G20W	probably damaging	Het
Ces1c	A	G	8: 93,130,890	L21P	probably benign	Het
Col11a2	G	T	17: 34,049,795	G394V	unknown	Het
Cyp2c70	A	G	19: 40,180,504	V113A	probably benign	Het
Foxp1	C	G	6: 99,016,546	Q132H	unknown	Het
Fras1	A	T	5: 96,691,401	D1593V	probably benign	Het
Frzb	G	A	2: 80,446,897		probably benign	Het
Gas6	T	C	8: 13,475,156	D276G	probably damaging	Het
Gdf7	C	T	12: 8,298,167	E377K	probably damaging	Het
Ggnbp2	A	G	11: 84,862,306	F36L	possibly damaging	Het
Gm40460	A	T	7: 142,240,997	C28S	unknown	Het
Hnrnpd	A	G	5: 99,963,729		probably benign	Het
Hsd17b11	G	A	5: 103,992,837	L265F	probably benign	Het
Hyal6	G	A	6: 24,734,674	R202H	probably benign	Het
Igkv5-43	A	G	6: 69,823,608	S32P	probably benign	Het
Kank1	A	G	19: 25,411,543	Y860C	probably damaging	Het
Krt79	G	A	15: 101,938,006	T169M	probably damaging	Het
Lama5	C	T	2: 180,178,561	C3296Y	probably damaging	Het
Ly75	A	T	2: 60,318,385	I1200K	probably damaging	Het
Myo1b	A	T	1: 51,863,336	Y78*	probably null	Het
Napb	A	G	2: 148,700,476	V188A	probably benign	Het
Neb	T	C	2: 52,258,783	Y2584C	probably damaging	Het
Olfr671	T	C	7: 104,975,239	I253V	possibly damaging	Het
P4htm	G	A	9: 108,580,041	A381V	probably damaging	Het
Pcdha8	T	A	18: 36,993,853	F463I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phip	T	C	9: 82,893,559	T1030A	probably damaging	Het
Phrf1	T	A	7: 141,258,738	F615L	unknown	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Sf3b5	G	T	10: 13,008,810	R63L	probably damaging	Het
Sh3rf1	T	C	8: 61,349,557	L308P	probably damaging	Het
Slc7a2	A	T	8: 40,914,995	T599S	probably damaging	Het
Sox5	T	C	6: 144,041,286	N184S	possibly damaging	Het
Traf3	A	G	12: 111,242,504	E119G	possibly damaging	Het
Trim24	T	C	6: 37,903,653		probably benign	Het
Ubxn11	A	T	4: 134,126,240	I368F	probably damaging	Het
Vmn2r27	C	T	6: 124,230,229	G151D	probably damaging	Het
Wfdc16	T	A	2: 164,638,475	R33S	possibly damaging	Het
Zfp654	A	G	16: 64,785,070	V382A	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
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
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'- TCGTTCTGTGCCTATGGGAC -3'
(R):5'- AGTCTGACAGTGGAGTGGAC -3'

Sequencing Primer
(F):5'- GCAGCTCCTAGATTGGGAAAC -3'
(R):5'- AGTGGACCTGAGTGGAGATTCTC -3'

Posted On

2021-04-30