Mutagenetix > Incidental Mutation

Incidental Mutation 'R5449:Vmn1r120'

429221

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r120

Ensembl Gene

ENSMUSG00000093986

Gene Name

vomeronasal 1 receptor 120

Synonyms

Gm5730

MMRRC Submission

043014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5449 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

20786792-20787709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20787074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 212 (H212Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105202]

AlphaFold

K7N6J6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105202
AA Change: H212Q

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100837
Gene: ENSMUSG00000093986
AA Change: H212Q

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	2.3e-15	PFAM
Pfam:7tm_1	31	286	3.6e-6	PFAM
Pfam:V1R	41	296	6.4e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,123,579 (GRCm39)	I98F	probably benign	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,537 (GRCm39)	K197E	possibly damaging	Het
Agrn	A	G	4: 156,251,737 (GRCm39)		probably null	Het
Atad5	A	G	11: 80,014,934 (GRCm39)	I1337V	probably damaging	Het
Cd44	T	C	2: 102,662,891 (GRCm39)	T550A	probably damaging	Het
Cdk5rap2	A	C	4: 70,194,888 (GRCm39)	L952V	probably benign	Het
Cep104	T	A	4: 154,069,762 (GRCm39)		probably null	Het
Cfl1	A	G	19: 5,543,521 (GRCm39)	*167W	probably null	Het
Col22a1	T	C	15: 71,693,798 (GRCm39)	D734G	unknown	Het
Cry1	G	A	10: 84,968,999 (GRCm39)	L581F	probably benign	Het
Dmpk	A	G	7: 18,824,916 (GRCm39)	D406G	probably benign	Het
Faah	T	C	4: 115,856,692 (GRCm39)		probably null	Het
Fchsd2	T	C	7: 100,926,731 (GRCm39)	F607S	probably damaging	Het
Fga	CAAAG	CAAAGAAAG	3: 82,938,169 (GRCm39)		probably null	Het
Hdac5	G	A	11: 102,086,923 (GRCm39)	Q46*	probably null	Het
Hltf	A	G	3: 20,123,247 (GRCm39)	T212A	possibly damaging	Het
Ilvbl	G	A	10: 78,412,862 (GRCm39)		probably null	Het
Ldhc	T	C	7: 46,519,082 (GRCm39)	S102P	possibly damaging	Het
Med12l	T	C	3: 59,167,127 (GRCm39)	V1529A	probably damaging	Het
Nlrp9a	A	G	7: 26,257,254 (GRCm39)	I202V	probably benign	Het
Nscme3l	G	A	19: 5,553,292 (GRCm39)	T163M	probably benign	Het
Pdc	A	C	1: 150,209,190 (GRCm39)	L224F	probably damaging	Het
Pgr	T	C	9: 8,956,344 (GRCm39)	V764A	possibly damaging	Het
Plxna1	T	C	6: 89,300,590 (GRCm39)	D1578G	probably damaging	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Ptrh1	A	G	2: 32,666,358 (GRCm39)	S37G	probably damaging	Het
Rgs9	T	C	11: 109,116,570 (GRCm39)	D411G	probably benign	Het
Riok3	A	T	18: 12,288,303 (GRCm39)	E493D	probably damaging	Het
Rnf213	T	C	11: 119,305,902 (GRCm39)	M570T	probably benign	Het
Scamp2	A	G	9: 57,488,154 (GRCm39)	D187G	probably damaging	Het
Scn1a	T	A	2: 66,151,346 (GRCm39)	I819F	probably damaging	Het
Slc7a5	C	A	8: 122,613,087 (GRCm39)	W330C	probably damaging	Het
Syn3	A	T	10: 86,187,434 (GRCm39)	F230Y	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tro	T	C	X: 149,428,966 (GRCm39)		probably benign	Het
Ubr1	T	A	2: 120,793,981 (GRCm39)	M68L	probably benign	Het
Vmn1r46	T	C	6: 89,953,343 (GRCm39)	V64A	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp384	T	C	6: 125,001,101 (GRCm39)	S58P	probably damaging	Het

Other mutations in Vmn1r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Vmn1r120	APN	7	20,786,935 (GRCm39)	missense	probably benign	0.00
IGL02533:Vmn1r120	APN	7	20,787,063 (GRCm39)	missense	probably damaging	1.00
IGL03261:Vmn1r120	APN	7	20,787,450 (GRCm39)	missense	probably damaging	1.00
R0539:Vmn1r120	UTSW	7	20,787,397 (GRCm39)	missense	probably damaging	0.99
R0973:Vmn1r120	UTSW	7	20,786,941 (GRCm39)	missense	probably damaging	1.00
R1831:Vmn1r120	UTSW	7	20,787,556 (GRCm39)	missense	probably benign
R2034:Vmn1r120	UTSW	7	20,786,883 (GRCm39)	missense	possibly damaging	0.56
R2149:Vmn1r120	UTSW	7	20,786,889 (GRCm39)	missense	probably damaging	0.98
R3437:Vmn1r120	UTSW	7	20,787,582 (GRCm39)	missense	probably damaging	1.00
R5548:Vmn1r120	UTSW	7	20,787,482 (GRCm39)	missense	probably benign	0.01
R5730:Vmn1r120	UTSW	7	20,786,934 (GRCm39)	missense	possibly damaging	0.80
R6305:Vmn1r120	UTSW	7	20,787,531 (GRCm39)	missense	possibly damaging	0.95
R7348:Vmn1r120	UTSW	7	20,787,377 (GRCm39)	missense	probably damaging	1.00
R8435:Vmn1r120	UTSW	7	20,787,557 (GRCm39)	missense	probably benign	0.44
R8486:Vmn1r120	UTSW	7	20,787,027 (GRCm39)	missense	probably benign
R9613:Vmn1r120	UTSW	7	20,787,046 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATACTGGGGAAGACTGCAGC -3'
(R):5'- CAGTGTCTTAAGTAACATCCACATTCC -3'

Sequencing Primer
(F):5'- TCACTGACAAGCCTTGTGAAG -3'
(R):5'- CACATTCCAATTAAGGTCACTGGTC -3'

Posted On

2016-09-06