Mutagenetix > Incidental Mutation

Incidental Mutation 'R1316:Vmn2r120'

157554

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r120

Ensembl Gene

ENSMUSG00000090655

Gene Name

vomeronasal 2, receptor 120

Synonyms

EG224916

MMRRC Submission

039382-MU

Accession Numbers

Essential gene?

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

Stock #

R1316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57815783-57852314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57832939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 80 (Q80R)

Ref Sequence

ENSEMBL: ENSMUSP00000129296 (fasta)

Gene Model

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

AlphaFold

A0A3Q4EG79

Predicted Effect

probably benign
Transcript: ENSMUST00000165781
AA Change: Q80R

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: Q80R

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: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cmpk1	A	G	4: 114,828,487 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,619 (GRCm39)		probably null	Het
Ears2	T	C	7: 121,645,905 (GRCm39)	T337A	probably benign	Het
Erbin	T	C	13: 103,977,742 (GRCm39)	K605R	possibly damaging	Het
Irs3	T	C	5: 137,642,703 (GRCm39)	E245G	probably damaging	Het
Limch1	T	C	5: 67,156,586 (GRCm39)	I223T	probably damaging	Het
Lrp1b	T	C	2: 40,592,816 (GRCm39)	T3768A	probably benign	Het
Notch4	G	A	17: 34,786,444 (GRCm39)	D195N	probably damaging	Het
Or5b109	T	C	19: 13,211,803 (GRCm39)	F63S	probably damaging	Het
Or7g25	T	A	9: 19,160,035 (GRCm39)	Q220L	probably benign	Het
Or8b12b	T	C	9: 37,684,039 (GRCm39)	F28S	possibly damaging	Het
Or8u8	T	C	2: 86,011,709 (GRCm39)	S249G	probably benign	Het
Podxl2	A	G	6: 88,826,199 (GRCm39)	L369P	probably benign	Het
Rnf149	A	G	1: 39,604,401 (GRCm39)	*45Q	probably null	Het
Scart2	T	C	7: 139,879,583 (GRCm39)	V957A	probably benign	Het
Slc4a11	T	A	2: 130,528,071 (GRCm39)	E528V	probably benign	Het
Slc9a1	A	G	4: 133,149,558 (GRCm39)	R795G	possibly damaging	Het
Slco6d1	A	T	1: 98,394,518 (GRCm39)	M401L	probably benign	Het
Tiparp	T	G	3: 65,460,772 (GRCm39)	F587C	probably 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
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
R5578:Vmn2r120	UTSW	17	57,829,514 (GRCm39)	missense	probably benign	0.01
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'- ATGGCCTCTTTCAAGCCTGTGAG -3'
(R):5'- TCTGTTTCAGTGCTAGGGTCAATGC -3'

Sequencing Primer
(F):5'- CTCTTTCAAGCCTGTGAGAAATCTG -3'
(R):5'- ACAGGGTAACTAGTCATCTGTTCG -3'

Posted On

2014-02-18