Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Vmn2r117'

251395

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23459911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 780 (S780P)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: S780P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: S780P

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: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,434	S59P	probably damaging	Het
Abcc9	T	C	6: 142,633,136	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,930,966	M262K	probably benign	Het
Ano2	C	A	6: 125,712,346	L145I	probably benign	Het
Ckap5	T	C	2: 91,578,081	W874R	probably damaging	Het
Cox4i1	G	T	8: 120,669,363		probably benign	Het
Cwc27	A	T	13: 104,806,751	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,566,885	S372P	probably damaging	Het
Dpysl4	A	G	7: 139,096,765	N356S	probably damaging	Het
Dusp8	A	G	7: 142,081,964		probably benign	Het
Erc2	G	A	14: 28,271,705	V894M	probably benign	Het
Fbxo28	T	A	1: 182,317,154	I282F	probably benign	Het
Fsd2	T	C	7: 81,545,860	T434A	probably damaging	Het
Gabra4	T	C	5: 71,572,078	H453R	probably benign	Het
Glrx	T	A	13: 75,839,946		probably null	Het
Gm11541	A	T	11: 94,695,615	L102*	probably null	Het
Gm5113	T	A	7: 30,178,725	Y79*	probably null	Het
Gpr87	T	A	3: 59,179,166	N306I	probably damaging	Het
Hydin	T	A	8: 110,609,929	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,413,471		probably benign	Het
Kbtbd8	C	A	6: 95,126,589	Y406*	probably null	Het
Lamb1	G	T	12: 31,298,883	R590L	probably benign	Het
Lin54	A	T	5: 100,480,250	N31K	probably damaging	Het
Lnpk	T	C	2: 74,537,501	E165G	probably damaging	Het
Lrp4	C	T	2: 91,475,212	R276C	probably damaging	Het
Lrrc7	T	A	3: 158,135,391	T1384S	probably benign	Het
Mia2	T	C	12: 59,170,994		probably null	Het
Morc2a	T	C	11: 3,685,400	V797A	probably damaging	Het
Mrps23	T	C	11: 88,205,367		probably benign	Het
Muc3	A	T	5: 137,146,636	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630		noncoding transcript	Het
Nptx1	A	T	11: 119,544,843		probably benign	Het
Olfr352	T	A	2: 36,870,196	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 164,044,382		probably null	Het
Pdcd6ip	A	T	9: 113,674,507		probably null	Het
Plcg1	A	G	2: 160,761,463	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,102,483	Q230R	probably benign	Het
Psme4	T	A	11: 30,874,282		probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptch1	T	A	13: 63,542,224	N320Y	probably damaging	Het
Qars	G	A	9: 108,508,443	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rhag	T	C	17: 40,836,476	S410P	probably damaging	Het
Rnf213	A	G	11: 119,410,144	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,837,352	E294G	probably benign	Het
Scaf4	T	A	16: 90,244,356	I695F	unknown	Het
Scrn2	T	C	11: 97,032,296		probably benign	Het
Scx	T	A	15: 76,458,163	C188S	probably damaging	Het
Sdk1	G	T	5: 142,212,050	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,400	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,613,567	S459G	probably benign	Het
Smurf1	A	G	5: 144,883,562		probably benign	Het
Taar4	T	C	10: 23,961,430	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,271,463	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,140,361	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,116,438	T102A	probably damaging	Het
Trpa1	A	T	1: 14,905,998	N160K	probably damaging	Het
Ttc22	A	G	4: 106,639,238	Y495C	probably benign	Het
Usp50	A	G	2: 126,778,029	I121T	probably damaging	Het
Vmn2r66	A	T	7: 84,995,399	V601D	probably damaging	Het
Wapl	G	A	14: 34,691,777	A199T	probably benign	Het
Zfp658	A	G	7: 43,573,545	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,720,954	T9I	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
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
R3848: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'- AGCATTGGAAGATGATTTCACCCTG -3'
(R):5'- AGTCTGGCTGAGAGCTTCTC -3'

Sequencing Primer
(F):5'- GATTTCACCCTGATCATTTCAAGAG -3'
(R):5'- CCTCCTTCTGTTGATATTGATGCAC -3'

Posted On

2014-12-04