Mutagenetix > Incidental Mutation

Incidental Mutation 'R6162:Vmn2r12'

489916

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r12

Ensembl Gene

ENSMUSG00000090688

Gene Name

vomeronasal 2, receptor 12

Synonyms

Gm6769

MMRRC Submission

044309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109233715-109245730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109234430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 594 (L594P)

Ref Sequence

ENSEMBL: ENSMUSP00000093612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095922]

AlphaFold

L7N217

Predicted Effect

probably damaging
Transcript: ENSMUST00000095922
AA Change: L594P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: L594P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	76	466	8.8e-30	PFAM
Pfam:NCD3G	505	559	1.7e-18	PFAM
Pfam:7tm_3	591	827	3.9e-54	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,259,047 (GRCm39)	C2924W	probably damaging	Het
Adh4	T	A	3: 138,121,250 (GRCm39)		probably null	Het
Aox3	A	T	1: 58,198,890 (GRCm39)	D695V	possibly damaging	Het
Ccnj	A	G	19: 40,833,606 (GRCm39)	Y221C	probably damaging	Het
Cct2	T	A	10: 116,894,091 (GRCm39)	D221V	probably damaging	Het
Cd5	G	A	19: 10,703,244 (GRCm39)	T138M	probably damaging	Het
Cep78	A	T	19: 15,952,304 (GRCm39)	M307K	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dhrs11	C	T	11: 84,719,605 (GRCm39)	G40D	probably damaging	Het
Dnah10	A	G	5: 124,900,382 (GRCm39)	S3823G	probably benign	Het
Dnai3	T	A	3: 145,750,617 (GRCm39)	I821F	probably damaging	Het
Dock3	A	T	9: 106,841,998 (GRCm39)	Y944N	possibly damaging	Het
Dst	A	G	1: 34,045,318 (GRCm39)	D17G	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Fam20a	G	T	11: 109,573,696 (GRCm39)	S229*	probably null	Het
Fbn1	T	C	2: 125,202,147 (GRCm39)	D1242G	probably damaging	Het
Ggt5	T	A	10: 75,425,626 (GRCm39)	V28D	possibly damaging	Het
Gimap4	A	T	6: 48,667,655 (GRCm39)	I137F	probably damaging	Het
Git2	T	A	5: 114,899,717 (GRCm39)	H212L	probably damaging	Het
Gprc6a	T	A	10: 51,491,008 (GRCm39)	I739F	probably benign	Het
Il1rl2	A	G	1: 40,391,038 (GRCm39)	Y327C	probably damaging	Het
Lmf1	A	G	17: 25,831,368 (GRCm39)	I205V	probably benign	Het
Mipep	C	A	14: 61,024,853 (GRCm39)	P98Q	probably damaging	Het
Mroh2b	A	G	15: 4,944,707 (GRCm39)	D436G	probably damaging	Het
Mtcl2	T	A	2: 156,881,784 (GRCm39)	E756V	possibly damaging	Het
Myorg	A	G	4: 41,497,899 (GRCm39)	V577A	possibly damaging	Het
Notch1	C	T	2: 26,352,207 (GRCm39)	V2035I	probably benign	Het
Or1e28-ps1	T	A	11: 73,615,713 (GRCm39)	I46F	probably damaging	Het
Or2ag16	A	T	7: 106,352,227 (GRCm39)	Y123N	probably damaging	Het
Or4c118	G	T	2: 88,975,114 (GRCm39)	F84L	probably benign	Het
Oxa1l	A	G	14: 54,605,789 (GRCm39)	T395A	probably damaging	Het
Phospho2	T	A	2: 69,626,375 (GRCm39)	I177K	probably damaging	Het
Prpf40a	T	C	2: 53,049,317 (GRCm39)	T224A	probably benign	Het
Reln	T	A	5: 22,116,048 (GRCm39)	T2987S	probably damaging	Het
Scn5a	T	A	9: 119,351,621 (GRCm39)	I787F	probably damaging	Het
Sgsm2	A	T	11: 74,782,847 (GRCm39)	D36E	probably damaging	Het
Slc12a3	A	G	8: 95,072,401 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Top3a	T	C	11: 60,636,763 (GRCm39)	Y609C	probably damaging	Het
Trem2	A	G	17: 48,655,694 (GRCm39)	I84V	probably damaging	Het
Zdbf2	A	T	1: 63,319,977 (GRCm39)		probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Vmn2r12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Vmn2r12	APN	5	109,245,541 (GRCm39)	missense	possibly damaging	0.47
IGL01096:Vmn2r12	APN	5	109,234,125 (GRCm39)	missense	probably damaging	1.00
IGL01538:Vmn2r12	APN	5	109,239,716 (GRCm39)	missense	probably damaging	1.00
IGL01548:Vmn2r12	APN	5	109,240,893 (GRCm39)	nonsense	probably null
IGL01762:Vmn2r12	APN	5	109,234,430 (GRCm39)	missense	probably damaging	0.99
IGL01860:Vmn2r12	APN	5	109,240,025 (GRCm39)	missense	probably benign	0.10
IGL02269:Vmn2r12	APN	5	109,234,343 (GRCm39)	missense	probably damaging	1.00
IGL02530:Vmn2r12	APN	5	109,233,858 (GRCm39)	missense	probably damaging	1.00
IGL02887:Vmn2r12	APN	5	109,238,351 (GRCm39)	missense	probably benign	0.03
IGL03265:Vmn2r12	APN	5	109,239,936 (GRCm39)	missense	probably benign	0.05
R0396:Vmn2r12	UTSW	5	109,240,765 (GRCm39)	missense	probably benign	0.00
R0497:Vmn2r12	UTSW	5	109,239,755 (GRCm39)	nonsense	probably null
R0529:Vmn2r12	UTSW	5	109,240,714 (GRCm39)	missense	probably benign
R0715:Vmn2r12	UTSW	5	109,238,373 (GRCm39)	missense	probably benign	0.10
R0742:Vmn2r12	UTSW	5	109,234,281 (GRCm39)	missense	possibly damaging	0.55
R0894:Vmn2r12	UTSW	5	109,235,716 (GRCm39)	critical splice donor site	probably null
R1173:Vmn2r12	UTSW	5	109,240,720 (GRCm39)	missense	probably benign	0.00
R1174:Vmn2r12	UTSW	5	109,240,720 (GRCm39)	missense	probably benign	0.00
R1259:Vmn2r12	UTSW	5	109,239,763 (GRCm39)	missense	probably damaging	0.97
R1349:Vmn2r12	UTSW	5	109,234,452 (GRCm39)	missense	probably benign	0.00
R1388:Vmn2r12	UTSW	5	109,240,840 (GRCm39)	missense	possibly damaging	0.56
R1549:Vmn2r12	UTSW	5	109,240,696 (GRCm39)	missense	probably benign	0.06
R1766:Vmn2r12	UTSW	5	109,239,910 (GRCm39)	missense	probably damaging	1.00
R1781:Vmn2r12	UTSW	5	109,239,594 (GRCm39)	missense	probably benign	0.00
R1885:Vmn2r12	UTSW	5	109,239,942 (GRCm39)	missense	probably damaging	1.00
R2159:Vmn2r12	UTSW	5	109,239,340 (GRCm39)	missense	probably benign	0.02
R2420:Vmn2r12	UTSW	5	109,234,398 (GRCm39)	missense	probably benign	0.39
R2421:Vmn2r12	UTSW	5	109,234,398 (GRCm39)	missense	probably benign	0.39
R2422:Vmn2r12	UTSW	5	109,234,398 (GRCm39)	missense	probably benign	0.39
R2937:Vmn2r12	UTSW	5	109,239,397 (GRCm39)	missense	probably damaging	1.00
R2938:Vmn2r12	UTSW	5	109,239,397 (GRCm39)	missense	probably damaging	1.00
R3898:Vmn2r12	UTSW	5	109,238,370 (GRCm39)	missense	probably benign	0.02
R4061:Vmn2r12	UTSW	5	109,240,058 (GRCm39)	missense	possibly damaging	0.95
R4063:Vmn2r12	UTSW	5	109,240,058 (GRCm39)	missense	possibly damaging	0.95
R4090:Vmn2r12	UTSW	5	109,239,412 (GRCm39)	missense	probably benign	0.06
R4297:Vmn2r12	UTSW	5	109,239,830 (GRCm39)	missense	probably benign	0.12
R4298:Vmn2r12	UTSW	5	109,239,830 (GRCm39)	missense	probably benign	0.12
R4299:Vmn2r12	UTSW	5	109,239,830 (GRCm39)	missense	probably benign	0.12
R4304:Vmn2r12	UTSW	5	109,233,872 (GRCm39)	missense	probably damaging	1.00
R4306:Vmn2r12	UTSW	5	109,233,872 (GRCm39)	missense	probably damaging	1.00
R4307:Vmn2r12	UTSW	5	109,233,872 (GRCm39)	missense	probably damaging	1.00
R4308:Vmn2r12	UTSW	5	109,233,872 (GRCm39)	missense	probably damaging	1.00
R4594:Vmn2r12	UTSW	5	109,234,301 (GRCm39)	missense	probably damaging	1.00
R4783:Vmn2r12	UTSW	5	109,234,379 (GRCm39)	missense	probably damaging	1.00
R4900:Vmn2r12	UTSW	5	109,240,852 (GRCm39)	missense	probably damaging	1.00
R4929:Vmn2r12	UTSW	5	109,239,544 (GRCm39)	missense	probably damaging	1.00
R4974:Vmn2r12	UTSW	5	109,239,372 (GRCm39)	missense	probably damaging	1.00
R5389:Vmn2r12	UTSW	5	109,238,261 (GRCm39)	missense	probably benign	0.00
R5431:Vmn2r12	UTSW	5	109,239,684 (GRCm39)	missense	probably damaging	0.99
R5527:Vmn2r12	UTSW	5	109,234,483 (GRCm39)	nonsense	probably null
R5639:Vmn2r12	UTSW	5	109,240,666 (GRCm39)	missense	probably benign	0.06
R5753:Vmn2r12	UTSW	5	109,239,670 (GRCm39)	missense	probably damaging	1.00
R5797:Vmn2r12	UTSW	5	109,233,736 (GRCm39)	nonsense	probably null
R6142:Vmn2r12	UTSW	5	109,240,763 (GRCm39)	missense	probably benign
R6176:Vmn2r12	UTSW	5	109,233,866 (GRCm39)	missense	probably benign	0.43
R6853:Vmn2r12	UTSW	5	109,240,771 (GRCm39)	missense	probably damaging	1.00
R7238:Vmn2r12	UTSW	5	109,245,655 (GRCm39)	missense	possibly damaging	0.81
R7341:Vmn2r12	UTSW	5	109,239,811 (GRCm39)	missense	possibly damaging	0.95
R7341:Vmn2r12	UTSW	5	109,234,113 (GRCm39)	missense	possibly damaging	0.74
R7383:Vmn2r12	UTSW	5	109,240,684 (GRCm39)	missense	probably benign	0.19
R7740:Vmn2r12	UTSW	5	109,239,615 (GRCm39)	missense	probably damaging	1.00
R7749:Vmn2r12	UTSW	5	109,233,920 (GRCm39)	missense	probably damaging	0.99
R7861:Vmn2r12	UTSW	5	109,235,829 (GRCm39)	missense	probably benign	0.00
R7908:Vmn2r12	UTSW	5	109,234,307 (GRCm39)	missense	probably damaging	1.00
R8128:Vmn2r12	UTSW	5	109,239,747 (GRCm39)	missense	possibly damaging	0.81
R8175:Vmn2r12	UTSW	5	109,238,349 (GRCm39)	missense	probably damaging	0.97
R8234:Vmn2r12	UTSW	5	109,234,074 (GRCm39)	missense	probably benign	0.01
R8771:Vmn2r12	UTSW	5	109,239,952 (GRCm39)	missense	possibly damaging	0.95
R8947:Vmn2r12	UTSW	5	109,234,522 (GRCm39)	missense	possibly damaging	0.64
R8991:Vmn2r12	UTSW	5	109,234,033 (GRCm39)	nonsense	probably null
R9116:Vmn2r12	UTSW	5	109,233,885 (GRCm39)	missense	probably damaging	1.00
R9122:Vmn2r12	UTSW	5	109,240,910 (GRCm39)	missense	probably benign	0.00
R9153:Vmn2r12	UTSW	5	109,234,203 (GRCm39)	missense	probably damaging	1.00
R9371:Vmn2r12	UTSW	5	109,234,452 (GRCm39)	missense	probably benign	0.00
R9375:Vmn2r12	UTSW	5	109,233,986 (GRCm39)	missense	probably damaging	1.00
R9524:Vmn2r12	UTSW	5	109,239,823 (GRCm39)	missense	probably damaging	1.00
R9587:Vmn2r12	UTSW	5	109,239,322 (GRCm39)	missense	probably damaging	0.99
Z1088:Vmn2r12	UTSW	5	109,240,646 (GRCm39)	missense	probably benign
Z1176:Vmn2r12	UTSW	5	109,239,303 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAAATGTGGTCTGCTGCAGG -3'
(R):5'- GGAATGGATTCTCGACATTTATCG -3'

Sequencing Primer
(F):5'- CAGGATGCAGGTGGCCAG -3'
(R):5'- TTAGAGAAAACCCACTGCC -3'

Posted On

2017-10-10