Mutagenetix > Incidental Mutation

Incidental Mutation 'R2929:Rad51ap2'

254955

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2929 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11506080-11512929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11507185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 369 (Q369R)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124065]

AlphaFold

G3UW63

Predicted Effect

probably benign
Transcript: ENSMUST00000124065
AA Change: Q369R

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: Q369R

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	428	438	N/A	INTRINSIC
low complexity region	702	713	N/A	INTRINSIC
Pfam:RAD51_interact	937	975	1.3e-20	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd177	G	A	7: 24,453,704 (GRCm39)	Q396*	probably null	Het
Cdadc1	A	T	14: 59,835,284 (GRCm39)	M1K	probably null	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Cnnm3	T	A	1: 36,563,140 (GRCm39)	F701L	possibly damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Dennd4a	T	C	9: 64,759,699 (GRCm39)	V268A	possibly damaging	Het
Deup1	C	T	9: 15,486,484 (GRCm39)	V399I	probably benign	Het
Dscam	T	A	16: 96,486,612 (GRCm39)	Q1021L	possibly damaging	Het
Dst	A	T	1: 34,206,143 (GRCm39)	K932*	probably null	Het
Neurl2	T	C	2: 164,675,264 (GRCm39)	N33D	possibly damaging	Het
Pnma8b	T	C	7: 16,680,617 (GRCm39)	S534P	possibly damaging	Het
Pole2	G	A	12: 69,256,712 (GRCm39)	T271M	probably benign	Het
Ppfibp2	A	G	7: 107,296,858 (GRCm39)	M191V	probably damaging	Het
Rbm45	A	G	2: 76,208,763 (GRCm39)	I300V	probably benign	Het
Ro60	G	A	1: 143,633,616 (GRCm39)	A494V	possibly damaging	Het
Sco1	T	A	11: 66,954,748 (GRCm39)	I251K	probably damaging	Het
Spmip4	G	A	6: 50,551,285 (GRCm39)	T388I	probably benign	Het
Zfp202	T	C	9: 40,122,984 (GRCm39)	V582A	possibly damaging	Het
Zfp219	T	A	14: 52,246,436 (GRCm39)	E230D	probably benign	Het

Other mutations in Rad51ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Rad51ap2	APN	12	11,508,139 (GRCm39)	missense	probably benign	0.10
IGL01908:Rad51ap2	APN	12	11,508,592 (GRCm39)	missense	probably damaging	1.00
IGL02415:Rad51ap2	APN	12	11,506,930 (GRCm39)	missense	possibly damaging	0.91
IGL02731:Rad51ap2	APN	12	11,506,897 (GRCm39)	missense	probably damaging	0.99
IGL03407:Rad51ap2	APN	12	11,507,198 (GRCm39)	missense	possibly damaging	0.96
R0190:Rad51ap2	UTSW	12	11,508,540 (GRCm39)	missense	probably benign	0.01
R0281:Rad51ap2	UTSW	12	11,507,043 (GRCm39)	missense	possibly damaging	0.93
R0564:Rad51ap2	UTSW	12	11,507,897 (GRCm39)	missense	probably benign	0.20
R0674:Rad51ap2	UTSW	12	11,508,818 (GRCm39)	critical splice donor site	probably null
R0699:Rad51ap2	UTSW	12	11,507,601 (GRCm39)	missense	probably benign	0.03
R1033:Rad51ap2	UTSW	12	11,506,252 (GRCm39)	missense	probably damaging	0.98
R1255:Rad51ap2	UTSW	12	11,508,095 (GRCm39)	missense	possibly damaging	0.54
R1572:Rad51ap2	UTSW	12	11,507,113 (GRCm39)	missense	probably damaging	0.99
R1746:Rad51ap2	UTSW	12	11,507,776 (GRCm39)	missense	probably benign
R1882:Rad51ap2	UTSW	12	11,506,251 (GRCm39)	missense	possibly damaging	0.85
R2038:Rad51ap2	UTSW	12	11,507,025 (GRCm39)	missense	possibly damaging	0.73
R2151:Rad51ap2	UTSW	12	11,507,986 (GRCm39)	missense	probably benign	0.02
R2152:Rad51ap2	UTSW	12	11,507,986 (GRCm39)	missense	probably benign	0.02
R2154:Rad51ap2	UTSW	12	11,507,986 (GRCm39)	missense	probably benign	0.02
R2159:Rad51ap2	UTSW	12	11,507,752 (GRCm39)	missense	possibly damaging	0.87
R2321:Rad51ap2	UTSW	12	11,507,058 (GRCm39)	missense	probably damaging	1.00
R2355:Rad51ap2	UTSW	12	11,507,109 (GRCm39)	missense	probably benign
R2393:Rad51ap2	UTSW	12	11,507,798 (GRCm39)	missense	probably damaging	0.98
R2407:Rad51ap2	UTSW	12	11,508,502 (GRCm39)	missense	probably damaging	0.99
R2518:Rad51ap2	UTSW	12	11,507,068 (GRCm39)	missense	probably damaging	0.99
R3085:Rad51ap2	UTSW	12	11,506,758 (GRCm39)	missense	possibly damaging	0.53
R4009:Rad51ap2	UTSW	12	11,507,052 (GRCm39)	missense	probably benign	0.33
R4108:Rad51ap2	UTSW	12	11,508,396 (GRCm39)	missense	probably damaging	1.00
R4282:Rad51ap2	UTSW	12	11,506,465 (GRCm39)	missense	probably benign	0.01
R4536:Rad51ap2	UTSW	12	11,507,850 (GRCm39)	missense	possibly damaging	0.90
R4594:Rad51ap2	UTSW	12	11,507,881 (GRCm39)	missense	probably benign	0.01
R4678:Rad51ap2	UTSW	12	11,506,552 (GRCm39)	missense	probably damaging	0.96
R4679:Rad51ap2	UTSW	12	11,506,552 (GRCm39)	missense	probably damaging	0.96
R4810:Rad51ap2	UTSW	12	11,507,406 (GRCm39)	missense	probably damaging	1.00
R5151:Rad51ap2	UTSW	12	11,507,516 (GRCm39)	missense	probably benign	0.09
R5421:Rad51ap2	UTSW	12	11,509,368 (GRCm39)	nonsense	probably null
R5517:Rad51ap2	UTSW	12	11,508,313 (GRCm39)	missense	probably benign	0.19
R5786:Rad51ap2	UTSW	12	11,506,921 (GRCm39)	missense	probably damaging	1.00
R5884:Rad51ap2	UTSW	12	11,507,534 (GRCm39)	small deletion	probably benign
R5932:Rad51ap2	UTSW	12	11,508,387 (GRCm39)	missense	probably damaging	1.00
R6022:Rad51ap2	UTSW	12	11,508,523 (GRCm39)	missense	probably damaging	1.00
R6064:Rad51ap2	UTSW	12	11,507,418 (GRCm39)	missense	possibly damaging	0.80
R6112:Rad51ap2	UTSW	12	11,507,290 (GRCm39)	missense	probably benign	0.01
R6235:Rad51ap2	UTSW	12	11,507,517 (GRCm39)	missense	possibly damaging	0.70
R6282:Rad51ap2	UTSW	12	11,507,560 (GRCm39)	missense	probably benign	0.12
R6488:Rad51ap2	UTSW	12	11,508,161 (GRCm39)	missense	possibly damaging	0.56
R6668:Rad51ap2	UTSW	12	11,507,647 (GRCm39)	missense	probably benign	0.17
R6759:Rad51ap2	UTSW	12	11,507,145 (GRCm39)	missense	possibly damaging	0.91
R7030:Rad51ap2	UTSW	12	11,507,432 (GRCm39)	missense	possibly damaging	0.93
R7080:Rad51ap2	UTSW	12	11,506,366 (GRCm39)	missense	probably benign
R7105:Rad51ap2	UTSW	12	11,508,278 (GRCm39)	missense	possibly damaging	0.84
R7269:Rad51ap2	UTSW	12	11,506,807 (GRCm39)	missense	possibly damaging	0.67
R7286:Rad51ap2	UTSW	12	11,507,692 (GRCm39)	missense	probably benign	0.19
R7305:Rad51ap2	UTSW	12	11,507,344 (GRCm39)	missense	possibly damaging	0.68
R7451:Rad51ap2	UTSW	12	11,507,982 (GRCm39)	missense	probably benign	0.05
R7632:Rad51ap2	UTSW	12	11,507,116 (GRCm39)	missense	possibly damaging	0.85
R7833:Rad51ap2	UTSW	12	11,506,656 (GRCm39)	missense	probably benign
R7839:Rad51ap2	UTSW	12	11,507,238 (GRCm39)	missense	possibly damaging	0.83
R7953:Rad51ap2	UTSW	12	11,512,593 (GRCm39)	nonsense	probably null
R8040:Rad51ap2	UTSW	12	11,508,792 (GRCm39)	missense	probably benign	0.03
R8879:Rad51ap2	UTSW	12	11,507,401 (GRCm39)	missense	possibly damaging	0.55
R8963:Rad51ap2	UTSW	12	11,506,255 (GRCm39)	missense	possibly damaging	0.91
R9010:Rad51ap2	UTSW	12	11,508,675 (GRCm39)	missense	probably benign	0.01
R9328:Rad51ap2	UTSW	12	11,507,772 (GRCm39)	missense	probably benign	0.03
R9691:Rad51ap2	UTSW	12	11,509,413 (GRCm39)	missense	possibly damaging	0.70
R9712:Rad51ap2	UTSW	12	11,507,593 (GRCm39)	missense	possibly damaging	0.95
RF023:Rad51ap2	UTSW	12	11,508,076 (GRCm39)	missense	possibly damaging	0.94
X0026:Rad51ap2	UTSW	12	11,508,097 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTCCCAAAATAGACCGAATGCTAAG -3'
(R):5'- GAAAATGCATCCCTCTTCTGATTC -3'

Sequencing Primer
(F):5'- CCGAATGCTAAGAAACAAAAGTTAC -3'
(R):5'- ATGCATCCCTCTTCTGATTCCCTATC -3'

Posted On

2014-12-29