Mutagenetix > Incidental Mutation

Incidental Mutation 'R9703:Prrc2a'

729688

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 #

R9703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35149076-35164897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35159344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 452 (K452E)

Ref Sequence

ENSEMBL: ENSMUSP00000025253 (fasta)

Gene Model

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

AlphaFold

Q7TSC1

Predicted Effect

unknown
Transcript: ENSMUST00000025253
AA Change: K452E

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: K452E

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: K397E

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: K397E

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: 99.3%
20x: 98.2%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,932,695	T625A	probably benign	Het
Adam20	T	A	8: 40,795,934	N360K	probably damaging	Het
Apob	T	A	12: 7,980,507	L82Q	probably damaging	Het
Arhgap30	T	G	1: 171,407,771	L571R	probably damaging	Het
Atg9a	C	T	1: 75,185,787	C493Y	probably damaging	Het
Brip1	T	C	11: 86,062,004	T984A	possibly damaging	Het
Btbd9	A	G	17: 30,530,226	V38A	possibly damaging	Het
C87977	T	A	4: 144,212,940	D9V	probably damaging	Het
Crocc2	C	A	1: 93,202,722	D908E	probably benign	Het
Crybg3	C	G	16: 59,555,576	A58P	probably damaging	Het
Cts7	T	C	13: 61,356,536	N71S	probably damaging	Het
Ddx46	A	G	13: 55,676,822	Y962C	probably damaging	Het
Dock10	G	A	1: 80,539,823	R1373C	probably damaging	Het
Dock9	A	T	14: 121,544,577	*2043R	probably null	Het
Efs	A	T	14: 54,919,414	V388E	possibly damaging	Het
Esyt1	C	T	10: 128,518,927		probably null	Het
Extl3	G	T	14: 65,054,654	R907S	probably damaging	Het
Fcgbp	G	A	7: 28,106,975	V2123M	probably damaging	Het
Gas2l3	C	T	10: 89,414,081	A392T	probably benign	Het
Golm1	A	T	13: 59,649,619	D137E	probably benign	Het
Grxcr2	T	C	18: 41,991,923	D140G	possibly damaging	Het
Hist2h2aa2	G	A	3: 96,240,241	R4C	probably benign	Het
Hrh1	G	A	6: 114,481,018	C420Y	probably benign	Het
Ints13	A	T	6: 146,557,565	L316Q	probably damaging	Het
Iws1	T	A	18: 32,079,685	D55E	probably damaging	Het
Kcnrg	CACAACAA	CACAA	14: 61,607,560		probably benign	Het
Klrc2	G	C	6: 129,656,444	S215*	probably null	Het
Mpp5	T	A	12: 78,797,076	I18K	probably benign	Het
Muc5b	A	G	7: 141,871,798	T4727A	possibly damaging	Het
Nsd3	T	C	8: 25,641,212	S198P	probably benign	Het
Olfr133	A	T	17: 38,148,965	I126F	possibly damaging	Het
Olfr807	A	T	10: 129,755,417	I11N	possibly damaging	Het
Ovch2	T	A	7: 107,784,570	I523F	probably damaging	Het
Pcdhb1	T	A	18: 37,265,966	D323E	probably damaging	Het
Pfkl	T	A	10: 77,990,308		probably null	Het
Pigc	T	A	1: 161,970,607	F53I	probably benign	Het
Prph2	G	A	17: 46,923,521	A339T	unknown	Het
Rab36	T	C	10: 75,050,642	W151R	possibly damaging	Het
Sdk1	A	G	5: 142,114,528	T1438A	possibly damaging	Het
Slc25a17	A	T	15: 81,339,992	I55K	probably damaging	Het
Smg1	A	T	7: 118,140,521	I3401N	possibly damaging	Het
Smpd3	T	A	8: 106,265,081	H280L	probably damaging	Het
Srsf10	A	G	4: 135,863,842	H202R	probably benign	Het
Swap70	C	T	7: 110,273,305	R376C	probably damaging	Het
Syde1	G	T	10: 78,585,723	L665M	probably damaging	Het
Tha1	A	G	11: 117,871,037	V126A	probably damaging	Het
Tln2	T	C	9: 67,386,656	H230R	probably damaging	Het
Tnc	G	A	4: 63,971,175	A1698V	probably benign	Het
Twist2	C	A	1: 91,802,022	S132R	probably damaging	Het
Ubr1	C	T	2: 120,901,611	C1170Y	probably damaging	Het
Vwa1	G	A	4: 155,772,879	P154L	probably 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
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
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'- CTGCAGGAATTTCTTTGGGGAC -3'
(R):5'- ACCATTAATTCCCAGGCCTG -3'

Sequencing Primer
(F):5'- CAGGAATTTCTTTGGGGACTACAG -3'
(R):5'- CAGGCCTGGTTCTTTTATCCTGTAG -3'

Posted On

2022-10-06