Mutagenetix > Incidental Mutation

Incidental Mutation 'R7914:Vmn2r117'

647976

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7914 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23460126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 708 (I708T)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

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

AlphaFold

K7N6V1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171996
AA Change: I708T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: I708T

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,592,676	V12F	probably benign	Het
4932438A13Rik	A	T	3: 36,946,283	N1204Y	probably benign	Het
Adnp2	T	A	18: 80,130,841	R118W	probably damaging	Het
Apaf1	G	A	10: 91,060,233	R337C	probably damaging	Het
Arhgef40	T	C	14: 51,987,575	L59P	probably damaging	Het
B020011L13Rik	A	G	1: 117,801,432	E223G	probably benign	Het
Bcl6	T	C	16: 23,970,011	R536G	possibly damaging	Het
Catsperg1	T	C	7: 29,195,426	E582G	probably benign	Het
Ccdc136	A	G	6: 29,419,307	N942S	probably damaging	Het
Ccdc81	A	C	7: 89,875,780	M531R	possibly damaging	Het
Cep78	T	C	19: 15,976,308	E283G	probably benign	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
E230025N22Rik	C	A	18: 36,695,552	R24S	possibly damaging	Het
Epb41l1	T	A	2: 156,522,208	M879K	probably benign	Het
Fam135a	T	C	1: 24,026,679	Y1226C	probably damaging	Het
Fam212a	T	C	9: 107,985,562		probably benign	Het
Fbxo11	T	C	17: 88,012,603	E151G		Het
Herc6	A	G	6: 57,607,121	T322A	probably benign	Het
Kalrn	T	A	16: 34,028,752	Q2110L	probably benign	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lrrc19	T	A	4: 94,638,300	H340L	probably damaging	Het
Mkks	A	T	2: 136,880,956	F94I	probably damaging	Het
Pcdhga3	T	A	18: 37,674,960	F155L	probably benign	Het
Pdlim1	T	A	19: 40,252,001	I53F	probably damaging	Het
Pttg1	A	T	11: 43,425,594	L26Q	probably benign	Het
Rasa4	T	A	5: 136,101,656		probably benign	Het
Rsbn1l	A	G	5: 20,905,898	S481P	probably damaging	Het
Sae1	C	A	7: 16,387,723	G10C	unknown	Het
Samd15	T	C	12: 87,201,785	S415P	probably damaging	Het
Scn7a	T	A	2: 66,699,950	I684F	probably damaging	Het
Sec23b	T	A	2: 144,564,645	M120K	probably benign	Het
Slc20a1	G	A	2: 129,207,837	D340N	probably benign	Het
Slf2	T	A	19: 44,959,060	M821K	possibly damaging	Het
Suv39h2	G	A	2: 3,464,416	R301*	probably null	Het
Tgfbi	A	G	13: 56,629,689	T329A	probably damaging	Het
Tmprss12	T	C	15: 100,285,230	F151S	probably damaging	Het
Ttn	T	C	2: 76,917,181	D4508G	probably benign	Het
Tyk2	C	A	9: 21,121,555	C304F	probably benign	Het
Vmn1r121	T	A	7: 21,097,664	T284S	probably benign	Het
Vmn2r2	A	T	3: 64,134,105	D396E	probably benign	Het
Zfc3h1	A	G	10: 115,403,157		probably null	Het
Zic4	T	G	9: 91,384,128	V275G	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
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
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'- CCAGCATGCTGAATGTTATGG -3'
(R):5'- AGCCACCTGCATTCTACAGC -3'

Sequencing Primer
(F):5'- GCTTCATTAAAGGCACCAGG -3'
(R):5'- CAAATCACATTTGGAGTTGTATTCAC -3'

Posted On

2020-09-15