Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Vmn2r60'

544280

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r60

Ensembl Gene

ENSMUSG00000090619

Gene Name

vomeronasal 2, receptor 60

Synonyms

Gprc2a-rs3, Casr-rs3, EG637898

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6997 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

42116471-42195776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42142292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 546 (N546K)

Ref Sequence

ENSEMBL: ENSMUSP00000128493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166447]

AlphaFold

A0A3B2WBC8

Predicted Effect

probably benign
Transcript: ENSMUST00000166447
AA Change: N546K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: N546K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	78	471	1.2e-44	PFAM
Pfam:NCD3G	514	567	5.1e-23	PFAM
Pfam:7tm_3	600	835	1.4e-51	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 24,681,523	Y764C	probably benign	Het
Atxn1	C	T	13: 45,567,619	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Caprin2	A	G	6: 148,877,976	L111P	probably damaging	Het
Ccl8	A	T	11: 82,116,039	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,954,866		probably benign	Het
Cnga3	C	A	1: 37,244,884	H89Q	probably benign	Het
Cnga4	A	T	7: 105,406,983	Q264L	probably damaging	Het
Coil	A	G	11: 88,981,847	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,851,432	L461P	probably damaging	Het
Dock2	T	C	11: 34,464,922	E151G	probably damaging	Het
Dsc1	C	T	18: 20,086,644		probably null	Het
Dync2h1	A	T	9: 7,168,743	C357S	probably null	Het
Ebf3	A	C	7: 137,225,265	I306R	probably damaging	Het
Eprs	A	G	1: 185,396,163	H580R	possibly damaging	Het
Ermap	A	T	4: 119,178,613	F393I	probably damaging	Het
Flii	T	C	11: 60,722,325	T217A	probably benign	Het
Fras1	C	T	5: 96,614,873	Q745*	probably null	Het
Gja8	A	G	3: 96,919,341	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333	N48K	probably damaging	Het
Gpr158	C	T	2: 21,648,991	T457I	possibly damaging	Het
Kcnv1	A	T	15: 45,114,601	S14T	unknown	Het
Lamb2	T	C	9: 108,481,297	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,136,762	T722M	probably benign	Het
Map1b	T	C	13: 99,430,634	T1860A	unknown	Het
Map2k7	T	C	8: 4,244,035	Y194H	possibly damaging	Het
Map4	T	A	9: 110,052,914	M282K	probably benign	Het
Mkl1	G	T	15: 81,018,448	S220*	probably null	Het
Mmp10	A	G	9: 7,503,530	I134V	probably benign	Het
Msh5	A	T	17: 35,030,002	L685Q	probably damaging	Het
Myh1	T	A	11: 67,220,637	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,327,154	R18*	probably null	Het
Myo3b	A	T	2: 70,126,985	I185L	probably damaging	Het
Ninl	G	T	2: 150,966,225	H294Q	probably benign	Het
Olfr1252	G	A	2: 89,721,925	A62V	possibly damaging	Het
Olfr64	A	T	7: 103,893,031	S235T	probably benign	Het
Olfr907	T	C	9: 38,499,311	I214T	possibly damaging	Het
Orm3	T	A	4: 63,356,943	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,756,224	N432S	probably benign	Het
Pikfyve	T	A	1: 65,246,663	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371	D60E	probably benign	Het
Rack1	T	A	11: 48,803,925	V198E	probably damaging	Het
Ripk1	C	T	13: 34,017,117	A271V	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	G	T	13: 11,654,380	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,703,803	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sfxn5	A	G	6: 85,256,432	V181A	probably benign	Het
Slc5a4b	C	T	10: 76,089,978	A198T	probably damaging	Het
Sp2	C	T	11: 96,957,726	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tnfrsf11b	G	A	15: 54,252,374	L276F	probably damaging	Het
Usp37	A	G	1: 74,453,959	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844	R36I	probably damaging	Het
Vcan	T	C	13: 89,690,618	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,561,873	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 10,169,071	G477R	probably benign	Het
Wnt8b	G	A	19: 44,511,841	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,290,766	M10R	probably benign	Het
Zfp945	T	A	17: 22,852,569	K140*	probably null	Het

Other mutations in Vmn2r60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Vmn2r60	APN	7	42136486	missense	probably benign	0.09
IGL01623:Vmn2r60	APN	7	42136486	missense	probably benign	0.09
IGL02363:Vmn2r60	APN	7	42195154	missense	probably benign	0.02
IGL02485:Vmn2r60	APN	7	42195466	missense	possibly damaging	0.54
IGL02651:Vmn2r60	APN	7	42195586	missense	probably damaging	0.99
IGL02660:Vmn2r60	APN	7	42142296	nonsense	probably null
IGL03135:Vmn2r60	APN	7	42136594	missense	probably benign	0.13
IGL03307:Vmn2r60	APN	7	42116547	missense	probably benign	0.14
R0310:Vmn2r60	UTSW	7	42195140	missense	possibly damaging	0.54
R0314:Vmn2r60	UTSW	7	42135561	splice site	probably benign
R0328:Vmn2r60	UTSW	7	42142320	splice site	probably benign
R0464:Vmn2r60	UTSW	7	42135831	missense	probably damaging	0.99
R0755:Vmn2r60	UTSW	7	42195445	missense	probably damaging	1.00
R1119:Vmn2r60	UTSW	7	42194941	missense	possibly damaging	0.68
R1162:Vmn2r60	UTSW	7	42195771	missense	probably benign	0.29
R1241:Vmn2r60	UTSW	7	42137052	missense	probably benign	0.01
R1404:Vmn2r60	UTSW	7	42136787	missense	probably damaging	0.99
R1404:Vmn2r60	UTSW	7	42136787	missense	probably damaging	0.99
R1488:Vmn2r60	UTSW	7	42136713	missense	probably benign	0.17
R1623:Vmn2r60	UTSW	7	42135855	nonsense	probably null
R1628:Vmn2r60	UTSW	7	42136406	nonsense	probably null
R1883:Vmn2r60	UTSW	7	42136670	missense	probably damaging	0.99
R1884:Vmn2r60	UTSW	7	42136670	missense	probably damaging	0.99
R2182:Vmn2r60	UTSW	7	42195507	missense	probably benign	0.06
R2275:Vmn2r60	UTSW	7	42136827	nonsense	probably null
R2847:Vmn2r60	UTSW	7	42136433	missense	probably benign	0.07
R2885:Vmn2r60	UTSW	7	42140979	missense	possibly damaging	0.91
R2894:Vmn2r60	UTSW	7	42135796	missense	probably benign
R2921:Vmn2r60	UTSW	7	42141035	missense	probably damaging	0.98
R2922:Vmn2r60	UTSW	7	42141035	missense	probably damaging	0.98
R3772:Vmn2r60	UTSW	7	42116556	missense	probably benign	0.35
R3820:Vmn2r60	UTSW	7	42135701	missense	probably damaging	0.98
R3822:Vmn2r60	UTSW	7	42135701	missense	probably damaging	0.98
R3872:Vmn2r60	UTSW	7	42136454	missense	probably benign	0.19
R4222:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4223:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4224:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4526:Vmn2r60	UTSW	7	42195243	missense	probably damaging	0.96
R4547:Vmn2r60	UTSW	7	42135663	missense	probably null	0.54
R4840:Vmn2r60	UTSW	7	42135861	missense	probably damaging	1.00
R5173:Vmn2r60	UTSW	7	42195511	missense	probably damaging	0.97
R5231:Vmn2r60	UTSW	7	42137024	missense	possibly damaging	0.93
R5480:Vmn2r60	UTSW	7	42135730	missense	probably damaging	0.98
R5521:Vmn2r60	UTSW	7	42195625	missense	probably damaging	0.99
R5834:Vmn2r60	UTSW	7	42116508	missense	probably benign	0.17
R6038:Vmn2r60	UTSW	7	42194962	missense	probably benign	0.04
R6038:Vmn2r60	UTSW	7	42194962	missense	probably benign	0.04
R6112:Vmn2r60	UTSW	7	42195423	missense	probably damaging	1.00
R6149:Vmn2r60	UTSW	7	42136976	missense	probably damaging	1.00
R6170:Vmn2r60	UTSW	7	42135621	missense	possibly damaging	0.94
R6383:Vmn2r60	UTSW	7	42116471	start codon destroyed	probably null	0.04
R6811:Vmn2r60	UTSW	7	42194886	missense	probably damaging	1.00
R6876:Vmn2r60	UTSW	7	42135663	missense	probably null	0.54
R7040:Vmn2r60	UTSW	7	42142242	missense	probably benign	0.00
R7116:Vmn2r60	UTSW	7	42137063	missense	probably benign	0.00
R7128:Vmn2r60	UTSW	7	42195112	missense	probably damaging	0.96
R7232:Vmn2r60	UTSW	7	42136742	missense	possibly damaging	0.83
R7296:Vmn2r60	UTSW	7	42136402	missense	probably benign	0.01
R7376:Vmn2r60	UTSW	7	42195207	missense	probably damaging	1.00
R7526:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7527:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7528:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7764:Vmn2r60	UTSW	7	42195111	missense	probably damaging	0.99
R7843:Vmn2r60	UTSW	7	42195087	missense	probably benign	0.00
R8080:Vmn2r60	UTSW	7	42141097	missense	probably benign	0.30
R8290:Vmn2r60	UTSW	7	42142266	missense	probably damaging	1.00
R8342:Vmn2r60	UTSW	7	42141070	missense	possibly damaging	0.63
R8362:Vmn2r60	UTSW	7	42195530	missense	probably damaging	1.00
R8418:Vmn2r60	UTSW	7	42195426	missense	probably damaging	0.97
R8848:Vmn2r60	UTSW	7	42136745	missense	probably damaging	1.00
R8860:Vmn2r60	UTSW	7	42142230	missense	probably damaging	0.99
R8882:Vmn2r60	UTSW	7	42141094	missense	probably benign	0.00
R8913:Vmn2r60	UTSW	7	42136354	missense	probably benign	0.27
R9190:Vmn2r60	UTSW	7	42195511	missense	probably damaging	0.99
R9229:Vmn2r60	UTSW	7	42142299	missense	possibly damaging	0.95
R9295:Vmn2r60	UTSW	7	42136531	missense	probably benign	0.01
R9335:Vmn2r60	UTSW	7	42194908	missense	probably damaging	1.00
R9796:Vmn2r60	UTSW	7	42135748	missense	probably benign
RF024:Vmn2r60	UTSW	7	42140939	missense	probably benign	0.01
X0023:Vmn2r60	UTSW	7	42141114	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCAATACCAACTCTCATTAGCTTC -3'
(R):5'- ACCTAGAGTGTGTGATTTCAAAAGG -3'

Sequencing Primer
(F):5'- ACCAACTCTCATTAGCTTCAATTG -3'
(R):5'- CTCCCATTTGCCTAGGTA -3'

Posted On

2019-05-13