Mutagenetix > Incidental Mutation

Incidental Mutation 'R8486:Vmn1r120'

657737

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r120

Ensembl Gene

ENSMUSG00000093986

Gene Name

vomeronasal 1 receptor 120

Synonyms

Gm5730

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21052867-21053784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21053102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 228 (R228H)

Ref Sequence

ENSEMBL: ENSMUSP00000100837 (fasta)

Gene Model

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

AlphaFold

K7N6J6

Predicted Effect

probably benign
Transcript: ENSMUST00000105202
AA Change: R228H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100837
Gene: ENSMUSG00000093986
AA Change: R228H

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,275,092	S524G	probably benign	Het
Abca8b	A	T	11: 109,967,111	I546N	possibly damaging	Het
Abcd4	C	T	12: 84,603,978	R532H	probably damaging	Het
Acsf2	A	T	11: 94,569,960	D373E	probably damaging	Het
Acsm1	A	G	7: 119,660,657	T510A	probably damaging	Het
Adam21	C	T	12: 81,560,776	V71I	probably benign	Het
Adgra3	T	C	5: 49,990,279	D473G	probably damaging	Het
Agbl2	G	A	2: 90,801,155	V286I	possibly damaging	Het
Alkbh8	A	G	9: 3,344,642	E141G	probably null	Het
Arhgap21	T	C	2: 20,860,425	D952G	probably damaging	Het
Asb4	A	T	6: 5,390,653	K15N	possibly damaging	Het
Clip1	G	T	5: 123,614,707		probably benign	Het
Clip4	T	C	17: 71,863,844		probably benign	Het
Col4a3bp	T	C	13: 96,634,182	V533A	probably damaging	Het
Cyp2b10	T	C	7: 25,914,881	V260A	probably benign	Het
Dnm1	C	T	2: 32,334,727	M430I	probably benign	Het
Dpp7	T	C	2: 25,352,549	D464G	probably damaging	Het
Dspp	A	G	5: 104,174,017		probably benign	Het
Ephb1	A	C	9: 101,963,965	D730E	probably benign	Het
Fancf	A	G	7: 51,861,884	V124A	probably benign	Het
Fgfr2	G	A	7: 130,164,015	P692S	possibly damaging	Het
Fkbp15	G	A	4: 62,312,284	R731*	probably null	Het
Fos	T	C	12: 85,476,031	F239S	probably benign	Het
Fuz	T	C	7: 44,898,668	Y107H	probably damaging	Het
Gm3159	A	C	14: 4,400,520	N193T	probably damaging	Het
Helz2	T	A	2: 181,229,331	D2771V	probably damaging	Het
Ighv1-18	T	A	12: 114,682,705	K92M	probably damaging	Het
Kcnh3	A	G	15: 99,238,210	Y696C	probably damaging	Het
Klf15	T	A	6: 90,467,178	V245D	probably damaging	Het
L1td1	C	T	4: 98,737,674	A702V	probably damaging	Het
Lamc2	A	G	1: 153,158,891	M122T	probably benign	Het
Lrp1b	A	G	2: 41,728,690	L124P	probably damaging	Het
Mcrs1	G	T	15: 99,248,468	Y85*	probably null	Het
Mgst1	A	T	6: 138,143,028	I29L	probably benign	Het
Miga1	C	T	3: 152,276,753	R562H	probably damaging	Het
Mybpc3	T	C	2: 91,128,772	W687R	probably damaging	Het
Myh11	G	T	16: 14,204,668	A1682D	possibly damaging	Het
Nes	T	C	3: 87,980,013	S1816P	probably damaging	Het
Olfr368	T	G	2: 37,332,650	V301G	probably damaging	Het
Olfr656	T	C	7: 104,617,862	V69A	possibly damaging	Het
Pkhd1l1	T	G	15: 44,547,416	F2773C	probably damaging	Het
Pkp1	C	G	1: 135,918,976	E13Q	probably damaging	Het
Ppp2r2b	T	C	18: 42,898,804	D4G	probably benign	Het
Ppp6r3	G	A	19: 3,487,072	H455Y	probably benign	Het
R3hdm1	A	G	1: 128,178,920	R202G	probably benign	Het
Sgcz	T	G	8: 37,723,053	K106N	probably benign	Het
Slc13a4	T	C	6: 35,270,369	Y572C	probably damaging	Het
Syne2	C	T	12: 76,042,107	Q5080*	probably null	Het
Tpst2	C	T	5: 112,308,305	Q5*	probably null	Het
Ttn	T	A	2: 76,731,533	T28908S	possibly damaging	Het
Vmn2r3	T	C	3: 64,278,949	N105S	probably damaging	Het
Zfp521	T	C	18: 13,846,772	T195A	probably damaging	Het
Zfp616	T	A	11: 74,084,083	S484T	probably benign	Het

Other mutations in Vmn1r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Vmn1r120	APN	7	21053010	missense	probably benign	0.00
IGL02533:Vmn1r120	APN	7	21053138	missense	probably damaging	1.00
IGL03261:Vmn1r120	APN	7	21053525	missense	probably damaging	1.00
R0539:Vmn1r120	UTSW	7	21053472	missense	probably damaging	0.99
R0973:Vmn1r120	UTSW	7	21053016	missense	probably damaging	1.00
R1831:Vmn1r120	UTSW	7	21053631	missense	probably benign
R2034:Vmn1r120	UTSW	7	21052958	missense	possibly damaging	0.56
R2149:Vmn1r120	UTSW	7	21052964	missense	probably damaging	0.98
R3437:Vmn1r120	UTSW	7	21053657	missense	probably damaging	1.00
R5449:Vmn1r120	UTSW	7	21053149	missense	possibly damaging	0.53
R5548:Vmn1r120	UTSW	7	21053557	missense	probably benign	0.01
R5730:Vmn1r120	UTSW	7	21053009	missense	possibly damaging	0.80
R6305:Vmn1r120	UTSW	7	21053606	missense	possibly damaging	0.95
R7348:Vmn1r120	UTSW	7	21053452	missense	probably damaging	1.00
R8435:Vmn1r120	UTSW	7	21053632	missense	probably benign	0.44
R9613:Vmn1r120	UTSW	7	21053121	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAACAGTTGAGGATCACAGAAC -3'
(R):5'- AAAGCAACTTGTTCTGTTCCAC -3'

Sequencing Primer
(F):5'- TCTCTGAAGATCAACAGTAAGGG -3'
(R):5'- CCACTTCTGGATTCATTGGAGGC -3'

Posted On

2021-01-18