Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Vmn2r117'

275788

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R3848 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23460415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 612 (H612N)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171996]

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: H612N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: H612N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.6e-28	PFAM
Pfam:NCD3G	512	565	5e-20	PFAM
Pfam:7tm_3	595	833	8.2e-54	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,440,072	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,889,309		probably benign	Het
Anxa2	G	T	9: 69,467,342	D34Y	probably damaging	Het
Asic1	A	G	15: 99,672,933	N143S	probably benign	Het
Catsperb	A	C	12: 101,509,326	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525	E132G	possibly damaging	Het
Cdh16	T	C	8: 104,617,841	D22G	possibly damaging	Het
Cep170	G	A	1: 176,755,843	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Cpeb2	T	G	5: 43,237,445	S64A	probably damaging	Het
Ctsc	A	G	7: 88,309,610	H366R	probably benign	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Efhb	A	T	17: 53,426,996		probably benign	Het
Fat4	T	A	3: 39,007,261	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,267,149	S46P	probably benign	Het
Fbxo38	G	A	18: 62,515,073	S798F	possibly damaging	Het
Fggy	T	C	4: 95,601,124		probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Hoxd8	A	G	2: 74,705,585	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,270,837	F101L	probably damaging	Het
Jph2	G	A	2: 163,339,412	P611S	probably benign	Het
Kif1bp	A	G	10: 62,569,470	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,908,977	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,948,201	E132G	probably damaging	Het
Lman1l	G	A	9: 57,608,317	A425V	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrpprc	T	C	17: 84,770,927	I308V	probably benign	Het
Mei1	T	C	15: 82,113,017		probably benign	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr624	A	G	7: 103,670,701	V110A	probably damaging	Het
Olfr675	A	G	7: 105,024,332	V216A	probably damaging	Het
Orc2	T	C	1: 58,480,992	T225A	probably benign	Het
P2ry1	G	A	3: 61,003,459	W6*	probably null	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pigt	G	A	2: 164,498,580		probably benign	Het
Pik3c2a	A	T	7: 116,364,550	C71*	probably null	Het
Plcxd2	T	C	16: 45,972,266	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,311,042	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,691,308	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sell	A	T	1: 164,065,661	K149*	probably null	Het
Sidt1	A	G	16: 44,255,959		probably benign	Het
Slc6a5	C	G	7: 49,927,558		probably benign	Het
Slc7a14	A	T	3: 31,237,474	N218K	probably damaging	Het
Spice1	C	T	16: 44,378,891	R569*	probably null	Het
Stk35	G	T	2: 129,800,736	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298		probably benign	Het
Tnxb	A	C	17: 34,690,395	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,677,146	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r15	A	T	5: 109,297,446	D37E	probably benign	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp687	T	C	3: 95,007,914	D1092G	probably damaging	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23477840	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23475429	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23479546	missense	probably benign
IGL01078:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23478382	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23477241	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23475382	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23477225	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23459784	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23475578	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23477707	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23460165	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23475514	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23475503	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23460553	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23478473	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23477455	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23478389	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23477480	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23477644	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23460256	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23459911	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2974:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23460106	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23459877	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23478416	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23477885	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23459838	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23460148	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23477874	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23477202	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23479561	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23460114	missense	possibly damaging	0.95
R6520:Vmn2r117	UTSW	17	23460219	missense	probably damaging	0.99
R6674:Vmn2r117	UTSW	17	23460049	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23478308	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23479563	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23477203	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23475385	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23475565	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23460133	missense	probably benign	0.25
R7443:Vmn2r117	UTSW	17	23460345	missense	probably damaging	1.00
R7449:Vmn2r117	UTSW	17	23459895	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23477291	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23460126	missense	possibly damaging	0.95
R8001:Vmn2r117	UTSW	17	23479407	missense	possibly damaging	0.89
R8029:Vmn2r117	UTSW	17	23477770	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23460537	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23479468	missense	probably benign
R8723:Vmn2r117	UTSW	17	23477369	missense	probably damaging	1.00
R8914:Vmn2r117	UTSW	17	23460169	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23460471	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23459944	nonsense	probably null
R9244:Vmn2r117	UTSW	17	23477615	missense	probably damaging	0.98
R9464:Vmn2r117	UTSW	17	23477604	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23478476	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23477840	missense	probably damaging	1.00
V5622:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
Z1176:Vmn2r117	UTSW	17	23459766	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGTGATTTTGAATGCCAGAAC -3'
(R):5'- CCATTAGATGTGGATTATTGTGTCC -3'

Sequencing Primer
(F):5'- ATCGTTTTAGCCAAGACAGTGG -3'
(R):5'- CAGTGTCTGGAGGACCAATATGC -3'

Posted On

2015-04-06