Mutagenetix > Incidental Mutations

Incidental Mutation 'R7269:Rad51ap2'

565170

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11456079-11462928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11456806 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 243 (S243I)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124065
AA Change: S243I

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: S243I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,472,956	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,646,752	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,370,244	Q26R	probably benign	Het
Ahnak	T	A	19: 9,006,617	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
AI837181	C	A	19: 5,426,434	S208R	probably damaging	Het
Akap2	G	T	4: 57,855,217	R182L	probably damaging	Het
Arhgap35	T	G	7: 16,561,727	M1138L	probably benign	Het
Card14	T	G	11: 119,337,747	L633R	probably damaging	Het
Carmil3	A	G	14: 55,493,895	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,515,975	N223K	probably benign	Het
Ccdc39	T	C	3: 33,830,105	I363V	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccpg1	G	T	9: 73,013,327	R741S	probably benign	Het
Cenpc1	A	G	5: 86,013,507	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,032,418	M665K	probably benign	Het
Cp	A	G	3: 19,983,477	H832R	probably damaging	Het
Defa24	A	G	8: 21,734,549	I5V	probably benign	Het
Dlc1	A	C	8: 36,579,253	L730R	probably damaging	Het
Dmbt1	A	T	7: 131,066,621	I536F	unknown	Het
Dscam	G	A	16: 96,678,401	T1182I	probably benign	Het
Eea1	A	T	10: 96,018,138	I553F	probably damaging	Het
Far1	T	C	7: 113,561,447	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,433,014	S126T	probably benign	Het
Frmpd2	A	T	14: 33,522,881	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,888,410	T562S	probably benign	Het
Gm5475	T	C	15: 100,427,009	F106S	unknown	Het
Gpr12	T	C	5: 146,583,378	T245A	probably damaging	Het
Gsta2	A	G	9: 78,332,137	Y166H	probably benign	Het
H6pd	A	G	4: 149,982,912	V347A	probably benign	Het
Ifih1	T	C	2: 62,645,633	T100A	probably benign	Het
Itga2	C	T	13: 114,886,689	W59*	probably null	Het
Knstrn	T	A	2: 118,831,388		probably null	Het
Kprp	A	G	3: 92,823,871	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,684	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,232,873	V842A	unknown	Het
Mboat2	A	T	12: 24,831,709	T4S	probably benign	Het
Mcph1	T	A	8: 18,607,272		probably null	Het
Mkl2	A	T	16: 13,401,034	M515L	possibly damaging	Het
Muc5b	A	G	7: 141,857,535	D1406G	unknown	Het
Mylk	G	A	16: 34,785,011	G3D	probably damaging	Het
Ndst4	A	G	3: 125,438,358	D192G	probably damaging	Het
Nemp1	G	T	10: 127,695,476	R361L	probably damaging	Het
Nol4	A	C	18: 23,039,789	V85G	probably benign	Het
Nrbf2	G	A	10: 67,267,826	T166M	probably damaging	Het
Obscn	T	C	11: 59,043,012	E5342G	probably damaging	Het
Olfr1180	C	T	2: 88,412,495	M54I	possibly damaging	Het
Olfr129	C	A	17: 38,055,551	C5F	probably damaging	Het
Olfr1317	T	A	2: 112,142,560	F205Y	probably damaging	Het
Olfr557	T	G	7: 102,699,045	L269R	probably damaging	Het
Olfr77	A	G	9: 19,920,335	N42S	possibly damaging	Het
Pde4dip	A	G	3: 97,766,959	S214P	probably damaging	Het
Per3	A	T	4: 151,031,936	C278*	probably null	Het
Pi4k2a	T	C	19: 42,090,686	L62P	probably damaging	Het
Plekha7	C	A	7: 116,181,212	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,834,919	K567E	probably damaging	Het
Pradc1	T	A	6: 85,447,566	Q134L	probably benign	Het
Pwp2	A	G	10: 78,176,336	F628L	probably benign	Het
Rab5c	C	T	11: 100,716,102	G217D	probably benign	Het
Rasgrp4	C	A	7: 29,148,430	R432S	probably damaging	Het
Rhot2	C	T	17: 25,842,428		probably null	Het
Scn2a	T	A	2: 65,763,769	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,854,489		probably null	Het
Slc22a28	T	A	19: 8,117,127	T177S	probably benign	Het
Slc25a24	G	T	3: 109,158,644	Q272H	probably null	Het
Slc3a1	A	T	17: 85,032,445	I144F	probably damaging	Het
Smg9	C	T	7: 24,406,070	R176C	possibly damaging	Het
Sorl1	A	T	9: 42,037,203	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,204,069	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,851	S4T	probably benign	Het
Tacr1	A	T	6: 82,492,711	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,405,996	H54L	probably damaging	Het
Tnxb	T	C	17: 34,695,454	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,457,788	S681P	possibly damaging	Het
Ttc30b	A	G	2: 75,937,494	F305S	probably damaging	Het
Ttn	A	G	2: 76,907,832	V4167A	unknown	Het
Unc13d	T	A	11: 116,068,230	M702L	probably benign	Het
Vgll3	A	G	16: 65,839,518	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,102,567	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,428,471	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,126,577	T508I	probably benign	Het
Vps54	T	A	11: 21,277,670		probably null	Het
Wfs1	G	A	5: 36,967,790	Q586*	probably null	Het
Zbp1	A	T	2: 173,213,872	H166Q	unknown	Het
Zcchc3	G	A	2: 152,414,374	A135V	probably benign	Het
Zfp51	T	C	17: 21,463,698	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,489,771	T426A	probably benign	Het

Other mutations in Rad51ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Rad51ap2	APN	12	11458138	missense	probably benign	0.10
IGL01908:Rad51ap2	APN	12	11458591	missense	probably damaging	1.00
IGL02415:Rad51ap2	APN	12	11456929	missense	possibly damaging	0.91
IGL02731:Rad51ap2	APN	12	11456896	missense	probably damaging	0.99
IGL03407:Rad51ap2	APN	12	11457197	missense	possibly damaging	0.96
R0190:Rad51ap2	UTSW	12	11458539	missense	probably benign	0.01
R0281:Rad51ap2	UTSW	12	11457042	missense	possibly damaging	0.93
R0564:Rad51ap2	UTSW	12	11457896	missense	probably benign	0.20
R0674:Rad51ap2	UTSW	12	11458817	critical splice donor site	probably null
R0699:Rad51ap2	UTSW	12	11457600	missense	probably benign	0.03
R1033:Rad51ap2	UTSW	12	11456251	missense	probably damaging	0.98
R1255:Rad51ap2	UTSW	12	11458094	missense	possibly damaging	0.54
R1572:Rad51ap2	UTSW	12	11457112	missense	probably damaging	0.99
R1746:Rad51ap2	UTSW	12	11457775	missense	probably benign
R1882:Rad51ap2	UTSW	12	11456250	missense	possibly damaging	0.85
R2038:Rad51ap2	UTSW	12	11457024	missense	possibly damaging	0.73
R2151:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2152:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2154:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2159:Rad51ap2	UTSW	12	11457751	missense	possibly damaging	0.87
R2321:Rad51ap2	UTSW	12	11457057	missense	probably damaging	1.00
R2355:Rad51ap2	UTSW	12	11457108	missense	probably benign
R2393:Rad51ap2	UTSW	12	11457797	missense	probably damaging	0.98
R2407:Rad51ap2	UTSW	12	11458501	missense	probably damaging	0.99
R2518:Rad51ap2	UTSW	12	11457067	missense	probably damaging	0.99
R2929:Rad51ap2	UTSW	12	11457184	missense	probably benign	0.07
R3085:Rad51ap2	UTSW	12	11456757	missense	possibly damaging	0.53
R4009:Rad51ap2	UTSW	12	11457051	missense	probably benign	0.33
R4108:Rad51ap2	UTSW	12	11458395	missense	probably damaging	1.00
R4282:Rad51ap2	UTSW	12	11456464	missense	probably benign	0.01
R4536:Rad51ap2	UTSW	12	11457849	missense	possibly damaging	0.90
R4594:Rad51ap2	UTSW	12	11457880	missense	probably benign	0.01
R4678:Rad51ap2	UTSW	12	11456551	missense	probably damaging	0.96
R4679:Rad51ap2	UTSW	12	11456551	missense	probably damaging	0.96
R4810:Rad51ap2	UTSW	12	11457405	missense	probably damaging	1.00
R5151:Rad51ap2	UTSW	12	11457515	missense	probably benign	0.09
R5421:Rad51ap2	UTSW	12	11459367	nonsense	probably null
R5517:Rad51ap2	UTSW	12	11458312	missense	probably benign	0.19
R5786:Rad51ap2	UTSW	12	11456920	missense	probably damaging	1.00
R5884:Rad51ap2	UTSW	12	11457533	small deletion	probably benign
R5932:Rad51ap2	UTSW	12	11458386	missense	probably damaging	1.00
R6022:Rad51ap2	UTSW	12	11458522	missense	probably damaging	1.00
R6064:Rad51ap2	UTSW	12	11457417	missense	possibly damaging	0.80
R6112:Rad51ap2	UTSW	12	11457289	missense	probably benign	0.01
R6235:Rad51ap2	UTSW	12	11457516	missense	possibly damaging	0.70
R6282:Rad51ap2	UTSW	12	11457559	missense	probably benign	0.12
R6488:Rad51ap2	UTSW	12	11458160	missense	possibly damaging	0.56
R6668:Rad51ap2	UTSW	12	11457646	missense	probably benign	0.17
R6759:Rad51ap2	UTSW	12	11457144	missense	possibly damaging	0.91
R7030:Rad51ap2	UTSW	12	11457431	missense	possibly damaging	0.93
R7080:Rad51ap2	UTSW	12	11456365	missense	probably benign
R7105:Rad51ap2	UTSW	12	11458277	missense	possibly damaging	0.84
R7286:Rad51ap2	UTSW	12	11457691	missense	probably benign	0.19
R7305:Rad51ap2	UTSW	12	11457343	missense	possibly damaging	0.68
R7451:Rad51ap2	UTSW	12	11457981	missense	probably benign	0.05
R7632:Rad51ap2	UTSW	12	11457115	missense	possibly damaging	0.85
R7833:Rad51ap2	UTSW	12	11456655	missense	probably benign
R7839:Rad51ap2	UTSW	12	11457237	missense	possibly damaging	0.83
R7953:Rad51ap2	UTSW	12	11462592	nonsense	probably null
R8040:Rad51ap2	UTSW	12	11458791	missense	probably benign	0.03
RF023:Rad51ap2	UTSW	12	11458075	missense	possibly damaging	0.94
X0026:Rad51ap2	UTSW	12	11458096	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGCCAGGAAACCCATTTCTAG -3'
(R):5'- AGTGACTGGTGGTAACTTTCAG -3'

Sequencing Primer
(F):5'- GCCAGGAAACCCATTTCTAGATGTAC -3'
(R):5'- GACTGGTGGTAACTTTCAGAATAGTC -3'

Posted On

2019-06-26