Mutagenetix > Incidental Mutation

Incidental Mutation 'R5578:Vmn2r120'

437320

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r120

Ensembl Gene

ENSMUSG00000090655

Gene Name

vomeronasal 2, receptor 120

Synonyms

EG224916

MMRRC Submission

043133-MU

Accession Numbers

Essential gene?

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

Stock #

R5578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57815783-57852314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57829514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 461 (H461L)

Ref Sequence

ENSEMBL: ENSMUSP00000129296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165781]

AlphaFold

A0A3Q4EG79

Predicted Effect

probably benign
Transcript: ENSMUST00000165781
AA Change: H461L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: H461L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	80	474	5.9e-42	PFAM
Pfam:NCD3G	517	570	7.5e-22	PFAM
Pfam:7tm_3	598	836	1.3e-54	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,926,932 (GRCm39)	S521P	probably benign	Het
Aqp11	A	G	7: 97,386,665 (GRCm39)	F177S	probably damaging	Het
Arhgap40	G	T	2: 158,373,126 (GRCm39)	G128V	probably damaging	Het
Aspm	A	T	1: 139,398,455 (GRCm39)	K1011I	probably damaging	Het
Cachd1	A	G	4: 100,722,203 (GRCm39)	T89A	probably benign	Het
Cep89	ACTCCTCCTCCTCCTCCTCCTCCTC	ACTCCTCCTCCTCCTCCTCCTC	7: 35,109,067 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,758,806 (GRCm39)	C81*	probably null	Het
Chd7	A	G	4: 8,847,149 (GRCm39)	T1631A	probably benign	Het
Clca4b	T	A	3: 144,638,196 (GRCm39)	D22V	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp39a1	T	A	17: 43,991,031 (GRCm39)	N113K	possibly damaging	Het
Dnah11	A	T	12: 117,982,537 (GRCm39)	V2544D	probably damaging	Het
Dnai3	A	T	3: 145,802,983 (GRCm39)	Y69*	probably null	Het
Esr1	A	C	10: 4,919,164 (GRCm39)	Q418P	probably damaging	Het
Fam89a	T	A	8: 125,467,968 (GRCm39)	K115*	probably null	Het
Fstl4	T	A	11: 53,056,608 (GRCm39)	V455D	probably damaging	Het
Gm20730	T	A	6: 43,058,474 (GRCm39)	M113L	probably benign	Het
H2ac21	T	C	3: 96,127,554 (GRCm39)	V108A	probably damaging	Het
Hk3	C	T	13: 55,159,994 (GRCm39)	V327M	probably damaging	Het
Itm2c	T	A	1: 85,830,774 (GRCm39)	V57E	possibly damaging	Het
Lrba	T	C	3: 86,664,814 (GRCm39)	Y565H	probably benign	Het
Mab21l1	C	T	3: 55,691,435 (GRCm39)	Q341*	probably null	Het
Mdm2	C	T	10: 117,538,192 (GRCm39)	E69K	possibly damaging	Het
Mdn1	A	T	4: 32,728,167 (GRCm39)	I2709F	probably benign	Het
Mpp7	T	C	18: 7,355,101 (GRCm39)	N442D	probably benign	Het
Ncoa3	A	G	2: 165,896,248 (GRCm39)	I384V	probably benign	Het
Pm20d1	A	G	1: 131,743,760 (GRCm39)	N475S	probably benign	Het
Rhpn2	A	G	7: 35,070,135 (GRCm39)	D131G	probably damaging	Het
S1pr5	T	A	9: 21,155,847 (GRCm39)	Y193F	probably damaging	Het
Sdk1	A	T	5: 141,598,880 (GRCm39)	K182*	probably null	Het
Slx4	T	A	16: 3,804,726 (GRCm39)	E696V	probably damaging	Het
Smyd4	C	T	11: 75,295,602 (GRCm39)	P753S	probably benign	Het
Stambp	T	G	6: 83,538,782 (GRCm39)	D206A	probably benign	Het
Sult5a1	G	T	8: 123,869,860 (GRCm39)	Y262*	probably null	Het
Taar1	A	T	10: 23,796,718 (GRCm39)	I139F	possibly damaging	Het
Tchh	A	T	3: 93,351,618 (GRCm39)	R353*	probably null	Het
Thnsl2	C	T	6: 71,115,749 (GRCm39)	V153I	probably benign	Het
Trmt5	C	T	12: 73,331,837 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,957,232 (GRCm39)	Y728F	probably damaging	Het
Usp19	T	C	9: 108,370,639 (GRCm39)	V126A	probably benign	Het
Vcan	A	G	13: 89,839,622 (GRCm39)	V1974A	probably benign	Het
Zfp445	T	C	9: 122,682,402 (GRCm39)	Y513C	probably benign	Het
Zfp84	A	C	7: 29,474,856 (GRCm39)	M43L	possibly damaging	Het

Other mutations in Vmn2r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Vmn2r120	APN	17	57,832,732 (GRCm39)	missense	possibly damaging	0.86
IGL01346:Vmn2r120	APN	17	57,852,232 (GRCm39)	missense	probably benign	0.11
IGL01996:Vmn2r120	APN	17	57,832,222 (GRCm39)	missense	possibly damaging	0.92
IGL02503:Vmn2r120	APN	17	57,816,385 (GRCm39)	missense	probably benign	0.40
IGL02582:Vmn2r120	APN	17	57,831,724 (GRCm39)	missense	probably damaging	0.99
IGL02747:Vmn2r120	APN	17	57,831,719 (GRCm39)	missense	probably benign	0.19
IGL02896:Vmn2r120	APN	17	57,816,008 (GRCm39)	missense	probably damaging	1.00
IGL03139:Vmn2r120	APN	17	57,831,742 (GRCm39)	missense	probably benign	0.39
IGL03342:Vmn2r120	APN	17	57,816,372 (GRCm39)	missense	probably benign	0.03
A4554:Vmn2r120	UTSW	17	57,832,715 (GRCm39)	missense	probably benign	0.01
R0207:Vmn2r120	UTSW	17	57,832,052 (GRCm39)	missense	probably benign	0.17
R0472:Vmn2r120	UTSW	17	57,831,518 (GRCm39)	missense	probably benign	0.03
R0517:Vmn2r120	UTSW	17	57,815,949 (GRCm39)	missense	probably damaging	1.00
R1109:Vmn2r120	UTSW	17	57,832,829 (GRCm39)	missense	probably benign	0.09
R1316:Vmn2r120	UTSW	17	57,832,939 (GRCm39)	missense	probably benign	0.28
R1543:Vmn2r120	UTSW	17	57,829,374 (GRCm39)	missense	probably benign	0.09
R1795:Vmn2r120	UTSW	17	57,832,038 (GRCm39)	missense	probably benign	0.35
R1850:Vmn2r120	UTSW	17	57,832,826 (GRCm39)	missense	probably benign	0.19
R1920:Vmn2r120	UTSW	17	57,831,839 (GRCm39)	missense	probably benign	0.01
R1921:Vmn2r120	UTSW	17	57,831,839 (GRCm39)	missense	probably benign	0.01
R1922:Vmn2r120	UTSW	17	57,831,839 (GRCm39)	missense	probably benign	0.01
R2063:Vmn2r120	UTSW	17	57,831,553 (GRCm39)	missense	possibly damaging	0.88
R2064:Vmn2r120	UTSW	17	57,831,553 (GRCm39)	missense	possibly damaging	0.88
R2065:Vmn2r120	UTSW	17	57,831,553 (GRCm39)	missense	possibly damaging	0.88
R2067:Vmn2r120	UTSW	17	57,831,553 (GRCm39)	missense	possibly damaging	0.88
R2286:Vmn2r120	UTSW	17	57,815,958 (GRCm39)	missense	probably damaging	1.00
R2291:Vmn2r120	UTSW	17	57,816,479 (GRCm39)	missense	probably damaging	1.00
R3416:Vmn2r120	UTSW	17	57,816,241 (GRCm39)	missense	possibly damaging	0.89
R3874:Vmn2r120	UTSW	17	57,831,954 (GRCm39)	missense	probably benign	0.40
R4023:Vmn2r120	UTSW	17	57,843,718 (GRCm39)	missense	possibly damaging	0.92
R4024:Vmn2r120	UTSW	17	57,843,718 (GRCm39)	missense	possibly damaging	0.92
R4348:Vmn2r120	UTSW	17	57,829,466 (GRCm39)	missense	possibly damaging	0.47
R4409:Vmn2r120	UTSW	17	57,816,477 (GRCm39)	missense	probably damaging	1.00
R4610:Vmn2r120	UTSW	17	57,816,120 (GRCm39)	missense	probably damaging	1.00
R4771:Vmn2r120	UTSW	17	57,831,887 (GRCm39)	missense	probably damaging	1.00
R4786:Vmn2r120	UTSW	17	57,829,048 (GRCm39)	missense	probably benign	0.14
R4927:Vmn2r120	UTSW	17	57,816,125 (GRCm39)	missense	probably damaging	1.00
R5285:Vmn2r120	UTSW	17	57,843,703 (GRCm39)	missense	probably damaging	1.00
R5566:Vmn2r120	UTSW	17	57,852,290 (GRCm39)	missense	possibly damaging	0.95
R5643:Vmn2r120	UTSW	17	57,831,977 (GRCm39)	missense	probably benign	0.01
R5644:Vmn2r120	UTSW	17	57,831,977 (GRCm39)	missense	probably benign	0.01
R5781:Vmn2r120	UTSW	17	57,831,938 (GRCm39)	missense	probably benign	0.00
R6084:Vmn2r120	UTSW	17	57,832,721 (GRCm39)	missense	probably benign	0.15
R6120:Vmn2r120	UTSW	17	57,832,973 (GRCm39)	missense	probably benign	0.02
R6160:Vmn2r120	UTSW	17	57,816,418 (GRCm39)	missense	probably benign	0.03
R6248:Vmn2r120	UTSW	17	57,852,287 (GRCm39)	missense	probably benign	0.03
R6256:Vmn2r120	UTSW	17	57,831,700 (GRCm39)	nonsense	probably null
R6730:Vmn2r120	UTSW	17	57,832,012 (GRCm39)	missense	probably benign	0.03
R6821:Vmn2r120	UTSW	17	57,843,659 (GRCm39)	missense	probably benign	0.00
R6868:Vmn2r120	UTSW	17	57,852,218 (GRCm39)	missense	probably benign	0.00
R6880:Vmn2r120	UTSW	17	57,816,187 (GRCm39)	missense	probably damaging	1.00
R6986:Vmn2r120	UTSW	17	57,816,340 (GRCm39)	missense	probably damaging	1.00
R7276:Vmn2r120	UTSW	17	57,831,881 (GRCm39)	missense	probably benign	0.11
R7373:Vmn2r120	UTSW	17	57,816,406 (GRCm39)	missense	probably benign	0.35
R7653:Vmn2r120	UTSW	17	57,816,258 (GRCm39)	missense	possibly damaging	0.93
R7667:Vmn2r120	UTSW	17	57,843,657 (GRCm39)	missense	probably benign	0.04
R7775:Vmn2r120	UTSW	17	57,832,942 (GRCm39)	missense	probably damaging	1.00
R7778:Vmn2r120	UTSW	17	57,832,942 (GRCm39)	missense	probably damaging	1.00
R7797:Vmn2r120	UTSW	17	57,815,874 (GRCm39)	missense	probably damaging	1.00
R7824:Vmn2r120	UTSW	17	57,832,942 (GRCm39)	missense	probably damaging	1.00
R7902:Vmn2r120	UTSW	17	57,816,244 (GRCm39)	missense	possibly damaging	0.87
R7922:Vmn2r120	UTSW	17	57,831,683 (GRCm39)	missense	probably damaging	0.99
R8508:Vmn2r120	UTSW	17	57,832,843 (GRCm39)	missense	probably benign	0.03
R8847:Vmn2r120	UTSW	17	57,816,217 (GRCm39)	missense	probably benign	0.01
R8882:Vmn2r120	UTSW	17	57,852,229 (GRCm39)	missense	probably benign	0.01
R9134:Vmn2r120	UTSW	17	57,832,093 (GRCm39)	missense	probably damaging	1.00
R9161:Vmn2r120	UTSW	17	57,831,864 (GRCm39)	missense
R9336:Vmn2r120	UTSW	17	57,832,201 (GRCm39)	missense	possibly damaging	0.91
RF005:Vmn2r120	UTSW	17	57,828,991 (GRCm39)	missense	possibly damaging	0.65
Z1177:Vmn2r120	UTSW	17	57,816,245 (GRCm39)	missense	probably benign	0.00
Z1188:Vmn2r120	UTSW	17	57,829,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTAACCCACCTGTTTGTCTTTGG -3'
(R):5'- ATCGTGGAACCCTTGCTACTG -3'

Sequencing Primer
(F):5'- TGGTGCCCCACTCGATCATG -3'
(R):5'- GGGATATTAATTCTGCAGTTCCTTC -3'

Posted On

2016-10-26