Mutagenetix > Incidental Mutation

Incidental Mutation 'R8131:Vmn2r43'

632010

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r43

Ensembl Gene

ENSMUSG00000053720

Gene Name

vomeronasal 2, receptor 43

Synonyms

EC2-V2R

MMRRC Submission

067560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8131 (G1)

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

8247347-8263598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8258326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 296 (I296L)

Ref Sequence

ENSEMBL: ENSMUSP00000069647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066317]

AlphaFold

Q80Z08

Predicted Effect

probably benign
Transcript: ENSMUST00000066317
AA Change: I296L

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

SMART Domains

Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: I296L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	453	5.1e-35	PFAM
Pfam:NCD3G	496	549	7.7e-21	PFAM
Pfam:7tm_3	582	817	3e-56	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,506,834 (GRCm39)		probably null	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Acan	C	T	7: 78,741,086 (GRCm39)	P484L	possibly damaging	Het
Amotl2	T	A	9: 102,597,615 (GRCm39)	Y125N	probably damaging	Het
Apaf1	C	A	10: 90,913,420 (GRCm39)	V168F	possibly damaging	Het
Arhgap32	C	T	9: 32,158,426 (GRCm39)	H154Y	probably damaging	Het
B4galnt3	A	G	6: 120,271,346 (GRCm39)		probably null	Het
Bahcc1	C	T	11: 120,163,664 (GRCm39)	A654V	probably benign	Het
Bcl11b	T	A	12: 107,931,967 (GRCm39)	M202L	probably benign	Het
Cdc40	C	A	10: 40,717,473 (GRCm39)	R406L	possibly damaging	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Col26a1	T	C	5: 136,775,894 (GRCm39)	D353G	probably benign	Het
Col6a5	T	A	9: 105,778,815 (GRCm39)	Q1682L	unknown	Het
Cul9	C	T	17: 46,822,168 (GRCm39)	G1819D	probably damaging	Het
Cyp2b10	C	T	7: 25,614,242 (GRCm39)	Q239*	probably null	Het
Dthd1	T	A	5: 63,000,259 (GRCm39)	I527N	probably damaging	Het
Dzip3	C	T	16: 48,754,156 (GRCm39)		probably null	Het
Ecm2	A	G	13: 49,671,940 (GRCm39)	E147G	probably benign	Het
Ercc6l2	C	T	13: 63,982,561 (GRCm39)	T132M	probably damaging	Het
Esf1	G	A	2: 139,990,751 (GRCm39)	Q578*	probably null	Het
Gria4	C	T	9: 4,502,429 (GRCm39)	R368H	probably benign	Het
Hps5	T	C	7: 46,421,312 (GRCm39)	D717G	probably benign	Het
Hrh1	A	T	6: 114,457,253 (GRCm39)	D178V	probably benign	Het
Inppl1	T	C	7: 101,479,268 (GRCm39)	N537S	possibly damaging	Het
Itih1	T	C	14: 30,663,521 (GRCm39)	Y165C	probably damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Larp4	T	C	15: 99,892,570 (GRCm39)	V255A	probably damaging	Het
Lrriq1	T	G	10: 103,051,572 (GRCm39)	R393S	possibly damaging	Het
Mep1a	T	A	17: 43,813,558 (GRCm39)	I31L	probably benign	Het
Muc5b	C	T	7: 141,396,146 (GRCm39)	T134I	unknown	Het
Neurl4	T	C	11: 69,800,067 (GRCm39)	Y1052H	probably benign	Het
Nlrc5	C	G	8: 95,208,420 (GRCm39)	N755K	probably damaging	Het
Nrde2	T	C	12: 100,108,502 (GRCm39)	K363R	probably benign	Het
Pcdhb12	T	C	18: 37,570,335 (GRCm39)	S494P	possibly damaging	Het
Pcnx1	C	A	12: 81,965,292 (GRCm39)	S486R	possibly damaging	Het
Pira13	T	A	7: 3,825,161 (GRCm39)	R494*	probably null	Het
Plrg1	T	A	3: 82,977,081 (GRCm39)	V374E	probably damaging	Het
Plxnb2	A	G	15: 89,042,916 (GRCm39)	I1491T	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn4a	T	C	11: 106,232,367 (GRCm39)	E490G	probably benign	Het
Sec16a	A	G	2: 26,300,958 (GRCm39)	V887A		Het
Serpina3a	T	C	12: 104,082,467 (GRCm39)	I80T	probably damaging	Het
Setd1b	A	T	5: 123,281,443 (GRCm39)	I66F	unknown	Het
Slirp	T	A	12: 87,494,428 (GRCm39)		probably null	Het
Socs6	A	C	18: 88,888,169 (GRCm39)	S249A	probably benign	Het
Thoc2l	A	G	5: 104,669,027 (GRCm39)	E1183G	possibly damaging	Het
Ttn	A	T	2: 76,616,077 (GRCm39)	I16622N	probably damaging	Het
Uox	A	T	3: 146,331,589 (GRCm39)	T237S	probably damaging	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vps13b	T	C	15: 35,372,255 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,707 (GRCm39)	V962A		Het

Other mutations in Vmn2r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Vmn2r43	APN	7	8,258,583 (GRCm39)	missense	probably benign	0.00
IGL01777:Vmn2r43	APN	7	8,258,272 (GRCm39)	missense	probably damaging	1.00
IGL02096:Vmn2r43	APN	7	8,260,512 (GRCm39)	splice site	probably benign
IGL02429:Vmn2r43	APN	7	8,258,551 (GRCm39)	missense	probably benign	0.00
IGL03026:Vmn2r43	APN	7	8,258,096 (GRCm39)	missense	probably benign	0.05
IGL03155:Vmn2r43	APN	7	8,258,068 (GRCm39)	missense	possibly damaging	0.91
R1722:Vmn2r43	UTSW	7	8,258,067 (GRCm39)	missense	probably damaging	0.99
R1813:Vmn2r43	UTSW	7	8,258,055 (GRCm39)	missense	possibly damaging	0.81
R1896:Vmn2r43	UTSW	7	8,258,055 (GRCm39)	missense	possibly damaging	0.81
R1975:Vmn2r43	UTSW	7	8,258,550 (GRCm39)	missense	possibly damaging	0.91
R3951:Vmn2r43	UTSW	7	8,258,319 (GRCm39)	missense	probably benign	0.00
R4658:Vmn2r43	UTSW	7	8,258,070 (GRCm39)	missense	probably benign	0.01
R4879:Vmn2r43	UTSW	7	8,258,102 (GRCm39)	missense	probably benign	0.01
R4896:Vmn2r43	UTSW	7	8,247,848 (GRCm39)	missense	probably damaging	1.00
R5004:Vmn2r43	UTSW	7	8,247,848 (GRCm39)	missense	probably damaging	1.00
R5041:Vmn2r43	UTSW	7	8,247,806 (GRCm39)	missense	probably damaging	1.00
R5577:Vmn2r43	UTSW	7	8,247,811 (GRCm39)	missense	probably damaging	1.00
R6073:Vmn2r43	UTSW	7	8,258,184 (GRCm39)	missense	probably benign	0.13
R6133:Vmn2r43	UTSW	7	8,247,970 (GRCm39)	missense	probably damaging	1.00
R6867:Vmn2r43	UTSW	7	8,258,125 (GRCm39)	missense	probably benign	0.00
R7214:Vmn2r43	UTSW	7	8,256,379 (GRCm39)	critical splice donor site	probably null
R7339:Vmn2r43	UTSW	7	8,258,306 (GRCm39)	nonsense	probably null
R7424:Vmn2r43	UTSW	7	8,258,328 (GRCm39)	missense	probably damaging	0.99
R7534:Vmn2r43	UTSW	7	8,258,230 (GRCm39)	nonsense	probably null
R7542:Vmn2r43	UTSW	7	8,258,488 (GRCm39)	missense	probably benign	0.00
R7757:Vmn2r43	UTSW	7	8,258,253 (GRCm39)	missense	possibly damaging	0.77
R8345:Vmn2r43	UTSW	7	8,256,601 (GRCm39)	missense	possibly damaging	0.69
R8418:Vmn2r43	UTSW	7	8,258,583 (GRCm39)	nonsense	probably null
R9691:Vmn2r43	UTSW	7	8,247,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATTGGATGAATTGCTCTTCAG -3'
(R):5'- GCCTTTGTGAAAATGATCTCTGTTG -3'

Sequencing Primer
(F):5'- CTCTTCAGCATTTTACAGTTAGATGC -3'
(R):5'- TGTGAAAATGATCTCTGTTGATGAC -3'

Posted On

2020-06-30