Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Vmn2r117'

616376

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788, V2Rp6

MMRRC Submission

046041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23678649-23698571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23698381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 64 (N64I)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171996
AA Change: N64I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: N64I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,458,165 (GRCm39)	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,169,123 (GRCm39)	R136G	probably damaging	Het
Bptf	C	A	11: 106,938,166 (GRCm39)	E2*	probably null	Het
Cse1l	T	A	2: 166,781,833 (GRCm39)	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,567,671 (GRCm39)	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,470,902 (GRCm39)	I265V	probably benign	Het
Erich3	T	C	3: 154,419,553 (GRCm39)	S19P	probably benign	Het
Hmcn1	A	T	1: 150,540,629 (GRCm39)	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,346,152 (GRCm39)	Q370*	probably null	Het
Itpkb	T	C	1: 180,160,059 (GRCm39)	S62P	probably damaging	Het
Lig3	T	A	11: 82,682,902 (GRCm39)	C501S	probably benign	Het
Mab21l4	A	G	1: 93,082,321 (GRCm39)	L266P	probably damaging	Het
Nrxn1	C	T	17: 91,395,964 (GRCm39)	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,252,946 (GRCm39)	C319G	probably damaging	Het
Or51h1	A	T	7: 102,308,241 (GRCm39)	D71V	probably damaging	Het
Or5ac19	T	C	16: 59,089,472 (GRCm39)	N186S	probably benign	Het
Or5b118	A	G	19: 13,448,786 (GRCm39)	I109V	probably benign	Het
Or9k7	A	G	10: 130,046,729 (GRCm39)	V90A	probably benign	Het
Pabpc6	C	A	17: 9,888,302 (GRCm39)	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,823,687 (GRCm39)	Q226L	probably benign	Het
Pole	A	T	5: 110,460,600 (GRCm39)	I1127F	probably damaging	Het
Psg22	A	T	7: 18,453,671 (GRCm39)	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 44,818,212 (GRCm39)	T46S	probably benign	Het
Smad4	A	G	18: 73,774,881 (GRCm39)	S473P	probably damaging	Het
Snap47	T	A	11: 59,329,180 (GRCm39)	T41S	probably benign	Het
Snx21	T	C	2: 164,628,657 (GRCm39)	L100P	probably benign	Het
Stc1	T	A	14: 69,275,844 (GRCm39)	N212K	probably benign	Het
Stk32a	A	T	18: 43,448,209 (GRCm39)	N396I	possibly damaging	Het
Stox2	G	A	8: 47,639,512 (GRCm39)	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,284,744 (GRCm39)	M1V	probably null	Het
Trim33	T	C	3: 103,218,831 (GRCm39)		probably null	Het
Tyrp1	T	C	4: 80,758,907 (GRCm39)	V260A	probably benign	Het
Ush2a	T	C	1: 188,643,261 (GRCm39)	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,956,065 (GRCm39)	K75*	probably null	Het
Wdfy4	C	T	14: 32,695,492 (GRCm39)		probably null	Het
Wnt8a	A	T	18: 34,678,569 (GRCm39)	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,663,461 (GRCm39)	Y484*	probably null	Het
Zfp619	A	G	7: 39,184,645 (GRCm39)	K225R	probably benign	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23,698,520 (GRCm39)	missense	probably benign
IGL00990:Vmn2r117	APN	17	23,696,814 (GRCm39)	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23,694,403 (GRCm39)	missense	probably damaging	1.00
IGL01078:Vmn2r117	APN	17	23,696,778 (GRCm39)	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23,696,778 (GRCm39)	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23,697,356 (GRCm39)	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23,696,215 (GRCm39)	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23,694,356 (GRCm39)	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23,696,199 (GRCm39)	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23,678,758 (GRCm39)	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23,694,552 (GRCm39)	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23,696,681 (GRCm39)	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23,679,139 (GRCm39)	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23,694,488 (GRCm39)	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23,694,477 (GRCm39)	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23,679,527 (GRCm39)	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23,697,447 (GRCm39)	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23,696,429 (GRCm39)	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23,697,363 (GRCm39)	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23,696,454 (GRCm39)	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23,696,618 (GRCm39)	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23,679,230 (GRCm39)	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23,678,885 (GRCm39)	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23,678,830 (GRCm39)	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23,678,830 (GRCm39)	missense	probably damaging	1.00
R2974:Vmn2r117	UTSW	17	23,678,830 (GRCm39)	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23,679,389 (GRCm39)	missense	probably damaging	0.97
R3848:Vmn2r117	UTSW	17	23,679,389 (GRCm39)	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23,679,080 (GRCm39)	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23,698,487 (GRCm39)	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23,678,851 (GRCm39)	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23,697,390 (GRCm39)	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23,696,859 (GRCm39)	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23,678,812 (GRCm39)	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23,698,487 (GRCm39)	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23,679,122 (GRCm39)	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23,696,848 (GRCm39)	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23,696,176 (GRCm39)	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23,698,535 (GRCm39)	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23,679,088 (GRCm39)	missense	possibly damaging	0.95
R6520:Vmn2r117	UTSW	17	23,679,193 (GRCm39)	missense	probably damaging	0.99
R6674:Vmn2r117	UTSW	17	23,679,023 (GRCm39)	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23,697,282 (GRCm39)	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23,698,479 (GRCm39)	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23,698,537 (GRCm39)	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23,696,177 (GRCm39)	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23,694,359 (GRCm39)	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23,694,539 (GRCm39)	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23,679,319 (GRCm39)	missense	probably damaging	1.00
R7443:Vmn2r117	UTSW	17	23,679,107 (GRCm39)	missense	probably benign	0.25
R7449:Vmn2r117	UTSW	17	23,678,869 (GRCm39)	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23,696,265 (GRCm39)	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23,679,100 (GRCm39)	missense	possibly damaging	0.95
R8029:Vmn2r117	UTSW	17	23,696,744 (GRCm39)	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23,679,511 (GRCm39)	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23,698,442 (GRCm39)	missense	probably benign
R8723:Vmn2r117	UTSW	17	23,696,343 (GRCm39)	missense	probably damaging	1.00
R8914:Vmn2r117	UTSW	17	23,679,143 (GRCm39)	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23,679,445 (GRCm39)	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23,678,918 (GRCm39)	nonsense	probably null
R9244:Vmn2r117	UTSW	17	23,696,589 (GRCm39)	missense	probably damaging	0.98
R9464:Vmn2r117	UTSW	17	23,696,578 (GRCm39)	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23,697,450 (GRCm39)	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23,698,479 (GRCm39)	missense	possibly damaging	0.67
V5622:Vmn2r117	UTSW	17	23,696,814 (GRCm39)	missense	probably damaging	1.00
Z1176:Vmn2r117	UTSW	17	23,678,740 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCATTCCTAAGTGTGAGGC -3'
(R):5'- CAATTCTGCCCAGGCTCAGAAG -3'

Sequencing Primer
(F):5'- CTAGCTCTTTCCTGTTATGGA -3'
(R):5'- CTCAGAAGAGGAAAAATATGTTCACC -3'

Posted On

2020-01-23