Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03011:Rpa2'

407776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpa2

Ensembl Gene

ENSMUSG00000028884

Gene Name

replication protein A2

Synonyms

RPA34, 30-kDa protein, Rf-A2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL03011

Quality Score

Status

Chromosome

Chromosomal Location

132495671-132506057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132502358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 147 (I147V)

Ref Sequence

ENSEMBL: ENSMUSP00000099621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102561] [ENSMUST00000156968]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102561
AA Change: I147V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884
AA Change: I147V

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:RPA_C	166	262	1.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153046

Predicted Effect

probably benign
Transcript: ENSMUST00000156968

SMART Domains

Protein: ENSMUSP00000123780
Gene: ENSMUSG00000028884

Domain	Start	End	E-Value	Type
Pfam:RPA_C	1	70	3.6e-17	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Apob	C	A	12: 8,047,883 (GRCm39)	P941Q	probably damaging	Het
Armc9	T	A	1: 86,127,638 (GRCm39)		probably null	Het
Arpc5l	T	C	2: 38,903,730 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,592,621 (GRCm39)	D1745Y	probably damaging	Het
Atp9a	A	G	2: 168,494,552 (GRCm39)	V651A	probably damaging	Het
Ccnyl1	T	C	1: 64,747,631 (GRCm39)	I148T	possibly damaging	Het
Cfap95	T	A	19: 23,630,017 (GRCm39)	D25V	unknown	Het
Chrna6	A	T	8: 27,903,682 (GRCm39)	W17R	possibly damaging	Het
Cpne1	G	A	2: 155,919,917 (GRCm39)	H244Y	probably damaging	Het
Cpxm2	A	G	7: 131,650,807 (GRCm39)	Y618H	possibly damaging	Het
Csf1r	T	C	18: 61,243,473 (GRCm39)	I163T	probably benign	Het
Ctdsp1	T	C	1: 74,434,606 (GRCm39)		probably benign	Het
Ctsb	T	A	14: 63,370,806 (GRCm39)	I6N	probably benign	Het
Dcbld1	A	G	10: 52,160,244 (GRCm39)	N44S	probably damaging	Het
Dnah11	C	T	12: 117,976,112 (GRCm39)	C2769Y	probably benign	Het
Efemp2	C	A	19: 5,530,093 (GRCm39)	Q187K	probably damaging	Het
Elavl3	A	T	9: 21,947,612 (GRCm39)	I109N	probably damaging	Het
Elovl5	G	T	9: 77,890,066 (GRCm39)	K292N	probably benign	Het
Epb41	G	T	4: 131,731,105 (GRCm39)	P1T	probably damaging	Het
Gm44865	G	T	7: 108,165,007 (GRCm39)		probably benign	Het
Gnat2	C	A	3: 108,007,368 (GRCm39)	T262K	probably damaging	Het
Katnip	T	C	7: 125,451,174 (GRCm39)	C1102R	probably benign	Het
Kmt2e	A	T	5: 23,702,540 (GRCm39)	I951F	probably damaging	Het
Large2	T	C	2: 92,197,927 (GRCm39)	H258R	probably damaging	Het
Lnx1	G	A	5: 74,846,420 (GRCm39)	P10L	probably benign	Het
Lrp6	G	A	6: 134,497,380 (GRCm39)	S209L	possibly damaging	Het
Mc3r	A	G	2: 172,091,716 (GRCm39)	I313V	probably benign	Het
Med1	T	C	11: 98,051,859 (GRCm39)	D468G	possibly damaging	Het
Mlxip	T	C	5: 123,584,014 (GRCm39)	S526P	probably benign	Het
Myo15a	T	C	11: 60,400,357 (GRCm39)		probably benign	Het
Nedd1	T	C	10: 92,525,503 (GRCm39)	D602G	possibly damaging	Het
Nol7	C	T	13: 43,554,769 (GRCm39)		probably benign	Het
Or8c10	T	C	9: 38,279,364 (GRCm39)	I174T	possibly damaging	Het
Piezo2	T	C	18: 63,257,731 (GRCm39)	D329G	probably benign	Het
Pkia	G	T	3: 7,507,142 (GRCm39)	E75*	probably null	Het
Pramel26	A	C	4: 143,538,330 (GRCm39)	F214V	possibly damaging	Het
Ptpn14	A	T	1: 189,571,754 (GRCm39)	T282S	probably damaging	Het
Ptprg	C	T	14: 12,219,029 (GRCm38)	P408S	probably damaging	Het
Serpina12	T	C	12: 103,997,397 (GRCm39)	T375A	possibly damaging	Het
Serpinb11	T	A	1: 107,307,546 (GRCm39)	S326T	probably damaging	Het
Slc18a1	T	C	8: 69,491,515 (GRCm39)	T500A	probably benign	Het
Tapt1	A	G	5: 44,350,529 (GRCm39)	F247L	possibly damaging	Het
Trav8d-2	A	G	14: 53,280,218 (GRCm39)	I69M	possibly damaging	Het

Other mutations in Rpa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01986:Rpa2	APN	4	132,499,192 (GRCm39)	missense	probably benign	0.00
IGL01986:Rpa2	APN	4	132,499,191 (GRCm39)	missense	probably benign	0.04
R0062:Rpa2	UTSW	4	132,505,125 (GRCm39)	missense	probably damaging	1.00
R0062:Rpa2	UTSW	4	132,505,125 (GRCm39)	missense	probably damaging	1.00
R0094:Rpa2	UTSW	4	132,497,893 (GRCm39)	missense	probably damaging	1.00
R0094:Rpa2	UTSW	4	132,497,893 (GRCm39)	missense	probably damaging	1.00
R1168:Rpa2	UTSW	4	132,499,171 (GRCm39)	missense	probably damaging	1.00
R1812:Rpa2	UTSW	4	132,495,996 (GRCm39)	missense	probably benign	0.00
R2126:Rpa2	UTSW	4	132,496,099 (GRCm39)	critical splice donor site	probably null
R3051:Rpa2	UTSW	4	132,502,437 (GRCm39)	splice site	probably null
R4010:Rpa2	UTSW	4	132,497,960 (GRCm39)	critical splice donor site	probably null
R4223:Rpa2	UTSW	4	132,504,055 (GRCm39)	missense	probably damaging	1.00
R5175:Rpa2	UTSW	4	132,505,151 (GRCm39)	missense	probably damaging	1.00
R5406:Rpa2	UTSW	4	132,503,559 (GRCm39)	missense	probably benign	0.02
R6190:Rpa2	UTSW	4	132,502,331 (GRCm39)	missense	probably benign	0.13
R6413:Rpa2	UTSW	4	132,501,156 (GRCm39)	missense	probably benign	0.00
R7572:Rpa2	UTSW	4	132,496,014 (GRCm39)	missense	possibly damaging	0.94
R8503:Rpa2	UTSW	4	132,501,180 (GRCm39)	missense	probably benign	0.07
R8555:Rpa2	UTSW	4	132,499,481 (GRCm39)	splice site	probably null
R9021:Rpa2	UTSW	4	132,499,251 (GRCm39)	missense	probably damaging	1.00
R9024:Rpa2	UTSW	4	132,499,153 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02