Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Vmn2r57'

645163

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r57

Ensembl Gene

ENSMUSG00000066537

Gene Name

vomeronasal 2, receptor 57

Synonyms

EG269902

MMRRC Submission

067801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41399732-41448641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41427544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 399 (N399K)

Ref Sequence

ENSEMBL: ENSMUSP00000125817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000165029]

AlphaFold

L7N269

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165029
AA Change: N399K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: N399K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	77	471	1.4e-44	PFAM
Pfam:NCD3G	514	567	2.7e-23	PFAM
Pfam:7tm_3	600	835	1.8e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 122,781,545 (GRCm38)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,103,386 (GRCm38)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,376,928 (GRCm38)	K258*	probably null	Het
Aspm	T	G	1: 139,464,273 (GRCm38)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm38)	D29A	probably benign	Het
Bdh2	A	T	3: 135,295,252 (GRCm38)	I128F	probably damaging	Het
Bmper	T	A	9: 23,224,830 (GRCm38)	M69K	probably benign	Het
Ccdc7a	C	T	8: 128,798,764 (GRCm38)	M1415I	probably benign	Het
Ccpg1	G	A	9: 73,005,719 (GRCm38)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,634,097 (GRCm38)	T564I	probably benign	Het
Cemip	T	A	7: 83,942,165 (GRCm38)		probably null	Het
Cfap65	C	T	1: 74,928,044 (GRCm38)	G249R	probably benign	Het
Clec2m	T	A	6: 129,325,630 (GRCm38)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,601,490 (GRCm38)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,905,270 (GRCm38)	T879A	possibly damaging	Het
Diaph3	G	A	14: 86,829,093 (GRCm38)	Q955*	probably null	Het
Disp2	G	A	2: 118,810,803 (GRCm38)	V298M	unknown	Het
Dnah1	C	A	14: 31,264,594 (GRCm38)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,835,234 (GRCm38)	S13P	unknown	Het
Eci3	G	A	13: 34,948,181 (GRCm38)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,520,800 (GRCm38)	L232P	probably benign	Het
Ednra	G	A	8: 77,689,184 (GRCm38)	R145C	probably damaging	Het
Faap100	G	T	11: 120,377,030 (GRCm38)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,673,578 (GRCm38)	I275K	probably damaging	Het
Fat3	C	A	9: 15,999,274 (GRCm38)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,058,431 (GRCm38)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 28,155,360 (GRCm38)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,855,364 (GRCm38)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,186,614 (GRCm38)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,240,471 (GRCm38)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,210,779 (GRCm38)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,442,787 (GRCm38)	C505Y	probably benign	Het
Grm5	A	T	7: 88,074,538 (GRCm38)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,584,783 (GRCm38)	D21V	probably benign	Het
Jak2	T	C	19: 29,284,870 (GRCm38)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,348,816 (GRCm38)		probably null	Het
Kntc1	T	C	5: 123,786,930 (GRCm38)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,444,483 (GRCm38)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,654 (GRCm38)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,944,326 (GRCm38)	S1109P	probably benign	Het
Myocd	A	T	11: 65,187,132 (GRCm38)	C612*	probably null	Het
Or4b13	A	T	2: 90,252,217 (GRCm38)	M257K	possibly damaging	Het
Or4c102	A	G	2: 88,592,091 (GRCm38)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,527,519 (GRCm38)	C86*	probably null	Het
Or52h7	T	A	7: 104,564,224 (GRCm38)	M1K	probably null	Het
Or5w22	A	T	2: 87,532,347 (GRCm38)	T105S	probably benign	Het
Or8k21	A	T	2: 86,315,107 (GRCm38)	Y60N	probably damaging	Het
Pard3	C	T	8: 127,324,068 (GRCm38)	R204W	probably damaging	Het
Per1	T	A	11: 69,107,556 (GRCm38)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,164,279 (GRCm38)	S583P	unknown	Het
Pramel12	C	T	4: 143,416,868 (GRCm38)	T68I	probably benign	Het
Prex2	T	A	1: 11,199,894 (GRCm38)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,650,158 (GRCm38)	I756T	probably benign	Het
Pum2	T	C	12: 8,709,454 (GRCm38)	V98A	probably damaging	Het
Rad50	A	T	11: 53,684,141 (GRCm38)	S652T	probably benign	Het
Rfng	G	T	11: 120,784,075 (GRCm38)	P30T	unknown	Het
Rfx7	T	C	9: 72,617,691 (GRCm38)	I721T	probably benign	Het
Rpf1	G	T	3: 146,507,676 (GRCm38)	T240K	probably benign	Het
Ryr3	T	C	2: 112,652,925 (GRCm38)	N4189S	probably benign	Het
Samd15	G	C	12: 87,201,438 (GRCm38)	R299T	probably benign	Het
Scn3a	A	G	2: 65,498,991 (GRCm38)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,494,622 (GRCm38)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,743,778 (GRCm38)	R107Q	probably benign	Het
Sema4b	T	A	7: 80,220,819 (GRCm38)	V505E	probably damaging	Het
Siglec1	T	A	2: 131,078,578 (GRCm38)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm38)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,550,951 (GRCm38)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,455,467 (GRCm38)	Q135L	probably benign	Het
Suox	A	G	10: 128,671,331 (GRCm38)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,149,832 (GRCm38)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,125,957 (GRCm38)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 85,062,882 (GRCm38)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,008,257 (GRCm38)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,253,602 (GRCm38)	S421P	possibly damaging	Het
Vmn2r90	T	A	17: 17,712,865 (GRCm38)	L229*	probably null	Het
Vwf	A	T	6: 125,679,302 (GRCm38)	D2610V		Het
Zfp646	C	T	7: 127,883,910 (GRCm38)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm38)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,546,094 (GRCm38)	I317F	unknown	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41,428,785 (GRCm38)	missense	probably benign
IGL01108:Vmn2r57	APN	7	41,427,584 (GRCm38)	missense	probably benign	0.01
IGL01112:Vmn2r57	APN	7	41,425,043 (GRCm38)	missense	probably damaging	1.00
IGL01516:Vmn2r57	APN	7	41,399,946 (GRCm38)	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41,400,195 (GRCm38)	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41,400,450 (GRCm38)	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41,428,226 (GRCm38)	missense	probably benign
IGL02801:Vmn2r57	APN	7	41,448,632 (GRCm38)	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41,428,074 (GRCm38)	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41,399,741 (GRCm38)	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41,400,652 (GRCm38)	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41,399,733 (GRCm38)	splice site	probably null
R0305:Vmn2r57	UTSW	7	41,427,543 (GRCm38)	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41,427,792 (GRCm38)	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41,427,792 (GRCm38)	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41,428,801 (GRCm38)	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41,427,804 (GRCm38)	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41,428,211 (GRCm38)	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41,427,830 (GRCm38)	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41,400,124 (GRCm38)	missense	probably benign	0.38
R1764:Vmn2r57	UTSW	7	41,400,643 (GRCm38)	missense	probably damaging	1.00
R1848:Vmn2r57	UTSW	7	41,428,107 (GRCm38)	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41,448,577 (GRCm38)	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41,428,825 (GRCm38)	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41,428,074 (GRCm38)	missense	probably benign	0.00
R2394:Vmn2r57	UTSW	7	41,400,195 (GRCm38)	missense	possibly damaging	0.73
R3937:Vmn2r57	UTSW	7	41,428,130 (GRCm38)	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41,428,239 (GRCm38)	missense	probably benign
R4423:Vmn2r57	UTSW	7	41,426,640 (GRCm38)	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41,400,468 (GRCm38)	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41,400,495 (GRCm38)	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41,428,662 (GRCm38)	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41,426,550 (GRCm38)	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41,400,240 (GRCm38)	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41,427,939 (GRCm38)	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41,399,974 (GRCm38)	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41,448,471 (GRCm38)	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41,448,472 (GRCm38)	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41,428,690 (GRCm38)	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41,399,860 (GRCm38)	missense	probably benign
R6381:Vmn2r57	UTSW	7	41,428,818 (GRCm38)	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41,428,665 (GRCm38)	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41,399,794 (GRCm38)	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41,448,471 (GRCm38)	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41,400,286 (GRCm38)	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41,426,724 (GRCm38)	missense	probably benign	0.01
R7633:Vmn2r57	UTSW	7	41,425,089 (GRCm38)	missense	possibly damaging	0.76
R7811:Vmn2r57	UTSW	7	41,425,015 (GRCm38)	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41,426,759 (GRCm38)	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41,400,253 (GRCm38)	missense	probably benign	0.01
R8360:Vmn2r57	UTSW	7	41,400,216 (GRCm38)	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41,427,596 (GRCm38)	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41,428,739 (GRCm38)	missense	probably damaging	1.00
R8955:Vmn2r57	UTSW	7	41,400,147 (GRCm38)	missense	possibly damaging	0.64
R8985:Vmn2r57	UTSW	7	41,399,835 (GRCm38)	missense	probably benign
R9108:Vmn2r57	UTSW	7	41,428,768 (GRCm38)	missense	possibly damaging	0.87
R9160:Vmn2r57	UTSW	7	41,426,735 (GRCm38)	missense	possibly damaging	0.48
R9354:Vmn2r57	UTSW	7	41,400,239 (GRCm38)	missense	probably benign	0.01
R9566:Vmn2r57	UTSW	7	41,427,665 (GRCm38)	missense	probably benign	0.32
R9633:Vmn2r57	UTSW	7	41,426,582 (GRCm38)	missense	probably benign	0.00
X0026:Vmn2r57	UTSW	7	41,428,561 (GRCm38)	missense	possibly damaging	0.91
X0026:Vmn2r57	UTSW	7	41,428,125 (GRCm38)	missense	probably benign	0.03
X0065:Vmn2r57	UTSW	7	41,427,971 (GRCm38)	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41,400,498 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCTTTGATGCCTAATACTAACCC -3'
(R):5'- CACCATCATGAAGAGATGGTTG -3'

Sequencing Primer
(F):5'- AGGAAGGGATGTTACCTG -3'
(R):5'- CCATCATGAAGAGATGGTTGAGTTTG -3'

Posted On

2020-09-02