Mutagenetix > Incidental Mutation

Incidental Mutation 'R1255:Rad51ap2'

151426

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

039322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11506080-11512929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11508095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 672 (K672N)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

AlphaFold

G3UW63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124065
AA Change: K672N

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: K672N

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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,016 (GRCm39)	S21C	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acsf3	T	C	8: 123,512,705 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,965 (GRCm39)		probably null	Het
Antxr2	A	T	5: 98,123,231 (GRCm39)	I272N	probably benign	Het
Asphd2	A	C	5: 112,539,677 (GRCm39)	V52G	probably damaging	Het
Atxn3	T	A	12: 101,900,593 (GRCm39)	Q230L	probably damaging	Het
Bltp3b	T	C	10: 89,581,132 (GRCm39)	I9T	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ciz1	T	A	2: 32,255,888 (GRCm39)		probably null	Het
Dennd5b	A	T	6: 148,943,148 (GRCm39)	M576K	possibly damaging	Het
Ebf3	C	T	7: 136,826,941 (GRCm39)	V315I	probably benign	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Gimap1	T	A	6: 48,719,940 (GRCm39)	V184E	probably benign	Het
Gtf2f1	A	G	17: 57,317,982 (GRCm39)	V18A	probably damaging	Het
Kcnn3	A	T	3: 89,559,416 (GRCm39)	D562V	possibly damaging	Het
Kif20b	A	G	19: 34,927,506 (GRCm39)	T883A	probably benign	Het
Kmt2c	A	T	5: 25,556,151 (GRCm39)	L1198Q	probably damaging	Het
Nipal2	T	C	15: 34,584,828 (GRCm39)	I247V	probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Rbm28	C	T	6: 29,158,246 (GRCm39)	G155D	probably damaging	Het
Sema6a	A	T	18: 47,382,366 (GRCm39)	M701K	probably damaging	Het
Slc47a1	A	T	11: 61,260,974 (GRCm39)	L142Q	probably damaging	Het
Snx25	A	T	8: 46,569,275 (GRCm39)	N207K	probably benign	Het
Son	T	A	16: 91,461,583 (GRCm39)	V205E	probably damaging	Het
Spz1	C	A	13: 92,712,138 (GRCm39)	V113F	probably benign	Het
Tcn2	T	C	11: 3,872,120 (GRCm39)	T336A	probably benign	Het
Tln1	T	C	4: 43,538,044 (GRCm39)	D1852G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp729a	T	C	13: 67,769,965 (GRCm39)	E88G	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
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
R2929:Rad51ap2	UTSW	12	11,507,185 (GRCm39)	missense	probably benign	0.07
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'- CCCCTTTAATGGGTTTTGATAACACGGA -3'
(R):5'- CCTGAAAACATTCATTGTTCTCCCCACT -3'

Sequencing Primer
(F):5'- CTAGTTATGAGAGTACAAGATGTGCC -3'
(R):5'- GCTAACTCACTTTCTTGCAAAATACC -3'

Posted On

2014-01-29