Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Vmn1r17'

397050

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r17

Ensembl Gene

ENSMUSG00000115644

Gene Name

vomeronasal 1 receptor 17

Synonyms

V1rc16

MMRRC Submission

042744-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57359239-57363727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57360843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000153928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176395] [ENSMUST00000227186] [ENSMUST00000227966] [ENSMUST00000228156] [ENSMUST00000228294] [ENSMUST00000228342]

AlphaFold

Q8R2D8

Predicted Effect

probably benign
Transcript: ENSMUST00000176395
AA Change: V179A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135746
Gene: ENSMUSG00000093411
AA Change: V179A

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	1.4e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227186
AA Change: V179A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000227966
AA Change: V179A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000228156
AA Change: V130A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000228294
AA Change: V130A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000228342
AA Change: V179A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,671	T229S	probably benign	Het
Adrb3	T	C	8: 27,227,320	E367G	probably benign	Het
Ak9	T	A	10: 41,357,657	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,561,662	I516M	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Cry1	T	A	10: 85,133,286	H558L	probably benign	Het
Cyp3a57	T	A	5: 145,369,083	W126R	probably damaging	Het
Dhx36	A	T	3: 62,493,780	V355E	probably damaging	Het
Diexf	G	T	1: 193,113,781	T192K	probably damaging	Het
Dpp6	A	G	5: 27,399,015		probably benign	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Enpp2	T	C	15: 54,847,296	D694G	probably benign	Het
Esrp2	T	C	8: 106,133,298	E336G	probably damaging	Het
Faah	A	T	4: 116,000,741		probably benign	Het
Fat1	G	A	8: 45,025,809	G2608R	probably benign	Het
Fbxo8	A	T	8: 56,569,319	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,074,234	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,429,584	F252L	probably damaging	Het
Fnip2	T	C	3: 79,481,777	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,103,655	N206S	probably benign	Het
Gm4758	A	T	16: 36,312,556	H65L	probably damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
H2-T10	T	A	17: 36,118,951		probably null	Het
Henmt1	T	C	3: 108,940,050		probably null	Het
Man1b1	T	A	2: 25,343,353	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,783,475		probably null	Het
Mocos	T	C	18: 24,654,052	F43L	probably damaging	Het
Mpp6	T	A	6: 50,178,515	W259R	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Naip5	T	A	13: 100,223,406	I441F	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 97,059,820		probably benign	Het
Ncoa2	A	T	1: 13,175,172	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394		noncoding transcript	Het
Olfr459	G	T	6: 41,771,772	H176N	possibly damaging	Het
Olfr761	T	A	17: 37,952,364	Q220L	probably benign	Het
Pars2	A	G	4: 106,654,538	T506A	probably benign	Het
Pkp2	T	C	16: 16,260,336	S481P	probably damaging	Het
Plod3	T	C	5: 136,991,307	W459R	probably damaging	Het
Pramef12	A	T	4: 144,394,912	L181M	probably damaging	Het
Prdm10	A	T	9: 31,340,418	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Raver2	T	C	4: 101,102,724	C134R	probably damaging	Het
Rnf130	G	C	11: 50,052,895	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,721,452	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,329,985	S138T	possibly damaging	Het
Spred1	T	C	2: 117,177,621	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,631,343	M504K	probably benign	Het
Syt11	T	C	3: 88,747,842	D78G	probably damaging	Het
Trim23	C	T	13: 104,181,174	T61I	probably damaging	Het
Tsg101	T	C	7: 46,892,426	T260A	probably damaging	Het
Tyw5	T	C	1: 57,401,459	Y48C	probably damaging	Het
Vmn2r89	C	A	14: 51,456,163	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,292,942	S117G	probably benign	Het
Zfp93	C	G	7: 24,276,332	Q581E	probably damaging	Het

Other mutations in Vmn1r17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Vmn1r17	APN	6	57361200	missense	possibly damaging	0.48
IGL02073:Vmn1r17	APN	6	57360802	missense	probably benign	0.00
IGL03117:Vmn1r17	APN	6	57360516	missense	probably benign	0.08
IGL03168:Vmn1r17	APN	6	57360598	missense	probably benign	0.01
R0472:Vmn1r17	UTSW	6	57361319	missense	probably benign
R0590:Vmn1r17	UTSW	6	57361014	missense	probably benign	0.01
R0648:Vmn1r17	UTSW	6	57360475	missense	probably damaging	0.98
R1025:Vmn1r17	UTSW	6	57361255	missense	probably benign	0.05
R1545:Vmn1r17	UTSW	6	57361332	missense	probably benign	0.01
R2035:Vmn1r17	UTSW	6	57360588	missense	probably benign	0.13
R2507:Vmn1r17	UTSW	6	57361259	missense	probably damaging	0.99
R2508:Vmn1r17	UTSW	6	57360870	missense	possibly damaging	0.76
R3084:Vmn1r17	UTSW	6	57360783	missense	probably damaging	0.99
R3688:Vmn1r17	UTSW	6	57360559	missense	probably damaging	0.99
R3696:Vmn1r17	UTSW	6	57360538	missense	possibly damaging	0.74
R4436:Vmn1r17	UTSW	6	57360734	missense	possibly damaging	0.91
R4741:Vmn1r17	UTSW	6	57361352	nonsense	probably null
R4989:Vmn1r17	UTSW	6	57360475	missense	possibly damaging	0.47
R5013:Vmn1r17	UTSW	6	57360843	missense	probably benign	0.05
R5133:Vmn1r17	UTSW	6	57360843	missense	probably benign	0.05
R5134:Vmn1r17	UTSW	6	57360843	missense	probably benign	0.05
R5184:Vmn1r17	UTSW	6	57360843	missense	probably benign	0.05
R5185:Vmn1r17	UTSW	6	57360843	missense	probably benign	0.05
R5831:Vmn1r17	UTSW	6	57361014	missense	probably benign	0.01
R6487:Vmn1r17	UTSW	6	57361224	missense	possibly damaging	0.94
R7436:Vmn1r17	UTSW	6	57360877	missense	probably benign	0.03
R7600:Vmn1r17	UTSW	6	57360921	missense	probably benign	0.01
R8944:Vmn1r17	UTSW	6	57361157	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAGTCCACCCAGTACATGAC -3'
(R):5'- TCAGTCCCAAAACCTCAGTGTTG -3'

Sequencing Primer
(F):5'- TCCACCCAGTACATGACCACAAAG -3'
(R):5'- CCTCAGTGTTGGCAAATTTTAAAC -3'

Posted On

2016-06-21