Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01313:Vmn2r109'

73729

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r109

Ensembl Gene

ENSMUSG00000090572

Gene Name

vomeronasal 2, receptor 109

Synonyms

EG627814

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01313

Quality Score

Status

Chromosome

Chromosomal Location

20540517-20564756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20550157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 523 (R523K)

Ref Sequence

ENSEMBL: ENSMUSP00000132641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167093]

AlphaFold

K7N747

Predicted Effect

probably damaging
Transcript: ENSMUST00000167093
AA Change: R523K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132641
Gene: ENSMUSG00000090572
AA Change: R523K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	83	467	1.4e-35	PFAM
Pfam:NCD3G	510	563	3.1e-21	PFAM
Pfam:7tm_3	596	831	7.4e-52	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,645,010		probably null	Het
Abca7	T	A	10: 80,003,123		probably benign	Het
Acvr1c	T	G	2: 58,315,974	Q41H	probably benign	Het
Apob	A	T	12: 8,000,898	N1041Y	probably damaging	Het
Asb5	A	T	8: 54,585,763		probably benign	Het
Asxl3	A	T	18: 22,517,459	E835V	probably benign	Het
Ccdc73	A	T	2: 104,907,627	M23L	probably benign	Het
Cep170b	G	A	12: 112,735,652	R293H	probably damaging	Het
Chd8	C	A	14: 52,210,575	L316F	probably damaging	Het
Cldn13	T	C	5: 134,915,260	S24G	possibly damaging	Het
Cnot10	A	T	9: 114,631,855	N82K	probably benign	Het
Colec10	G	A	15: 54,459,761	V127M	probably damaging	Het
Cyp2d40	T	C	15: 82,761,277	S130G	unknown	Het
Ddx60	T	A	8: 61,982,526	H904Q	probably damaging	Het
Dnajc2	T	C	5: 21,774,976	N177S	possibly damaging	Het
F5	G	T	1: 164,193,612	V1219L	probably benign	Het
Fam47c	G	T	X: 78,737,848	R12L	probably damaging	Het
Fat4	T	C	3: 39,007,201	I4311T	possibly damaging	Het
Fbf1	A	G	11: 116,151,081	V545A	probably benign	Het
Fhod3	G	A	18: 25,020,720	E420K	probably damaging	Het
Ikzf2	T	C	1: 69,539,430	K162E	probably damaging	Het
Insl6	C	A	19: 29,321,553	S153I	possibly damaging	Het
Kcnh8	A	G	17: 52,834,680	Y317C	probably damaging	Het
Lrrc6	A	T	15: 66,380,513	S435T	probably benign	Het
Lzts1	C	A	8: 69,139,107	V130L	probably benign	Het
Mill1	T	C	7: 18,264,633	I256T	possibly damaging	Het
Mycbpap	A	C	11: 94,509,319		probably null	Het
Olfr808	A	G	10: 129,767,595	Y33C	probably damaging	Het
Pdia6	T	A	12: 17,270,541		probably benign	Het
Pik3c2b	C	T	1: 133,071,631	Q406*	probably null	Het
Pkhd1	C	A	1: 20,201,024	G3102C	probably damaging	Het
Polr3b	T	A	10: 84,725,743	I1122N	probably damaging	Het
Ryr2	T	A	13: 11,638,485		probably null	Het
Samhd1	A	G	2: 157,116,401	I300T	probably damaging	Het
Skint5	T	A	4: 113,805,164	I609F	unknown	Het
Slc27a3	G	T	3: 90,386,554	T541K	probably damaging	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Sv2c	C	T	13: 96,088,289	V171M	probably damaging	Het
Tenm2	A	G	11: 36,024,248	V2154A	probably damaging	Het
Thoc1	A	T	18: 9,987,158	I433F	probably benign	Het
Thoc2	A	T	X: 41,827,346	V865D	probably benign	Het
Trdn	C	A	10: 33,200,220	P282Q	probably damaging	Het
Twsg1	C	A	17: 65,948,704	C25F	probably damaging	Het
Usp34	T	A	11: 23,473,206	I3155N	probably damaging	Het
Vmn2r106	T	A	17: 20,278,389	Q420L	probably damaging	Het

Other mutations in Vmn2r109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Vmn2r109	APN	17	20541121	missense	possibly damaging	0.89
IGL01469:Vmn2r109	APN	17	20541409	missense	probably damaging	1.00
IGL01762:Vmn2r109	APN	17	20554392	missense	probably benign
IGL01864:Vmn2r109	APN	17	20541134	missense	probably benign	0.28
IGL02028:Vmn2r109	APN	17	20541080	missense	probably benign	0.28
IGL02074:Vmn2r109	APN	17	20554341	missense	probably benign	0.05
IGL02162:Vmn2r109	APN	17	20554160	missense	probably benign	0.01
IGL02474:Vmn2r109	APN	17	20540888	missense	probably benign
IGL02490:Vmn2r109	APN	17	20540984	missense	possibly damaging	0.78
IGL02604:Vmn2r109	APN	17	20540701	missense	probably damaging	1.00
IGL02669:Vmn2r109	APN	17	20554256	missense	possibly damaging	0.64
IGL02705:Vmn2r109	APN	17	20553800	missense	probably benign
IGL02745:Vmn2r109	APN	17	20541250	missense	probably damaging	0.99
PIT4142001:Vmn2r109	UTSW	17	20554577	critical splice acceptor site	probably null
R0389:Vmn2r109	UTSW	17	20541074	missense	probably damaging	1.00
R0470:Vmn2r109	UTSW	17	20552886	missense	probably benign	0.06
R0570:Vmn2r109	UTSW	17	20540675	missense	probably damaging	0.99
R0855:Vmn2r109	UTSW	17	20541408	nonsense	probably null
R0882:Vmn2r109	UTSW	17	20554580	splice site	probably benign
R1241:Vmn2r109	UTSW	17	20555241	missense	possibly damaging	0.86
R1587:Vmn2r109	UTSW	17	20540740	missense	probably damaging	1.00
R1931:Vmn2r109	UTSW	17	20553810	nonsense	probably null
R1957:Vmn2r109	UTSW	17	20564707	missense	probably benign	0.11
R1962:Vmn2r109	UTSW	17	20553923	missense	probably damaging	0.99
R2020:Vmn2r109	UTSW	17	20541186	nonsense	probably null
R2073:Vmn2r109	UTSW	17	20564712	missense	probably benign	0.00
R2436:Vmn2r109	UTSW	17	20554536	missense	probably damaging	0.99
R3123:Vmn2r109	UTSW	17	20540986	missense	probably damaging	1.00
R3839:Vmn2r109	UTSW	17	20554442	missense	probably damaging	1.00
R4019:Vmn2r109	UTSW	17	20553812	missense	probably benign
R4428:Vmn2r109	UTSW	17	20553024	missense	probably benign
R4584:Vmn2r109	UTSW	17	20554558	nonsense	probably null
R4652:Vmn2r109	UTSW	17	20541394	missense	probably damaging	1.00
R4708:Vmn2r109	UTSW	17	20541343	missense	probably damaging	0.97
R4823:Vmn2r109	UTSW	17	20553891	missense	probably damaging	1.00
R4831:Vmn2r109	UTSW	17	20541232	missense	probably benign	0.01
R4907:Vmn2r109	UTSW	17	20550086	missense	probably damaging	1.00
R5011:Vmn2r109	UTSW	17	20555189	missense	probably damaging	1.00
R5296:Vmn2r109	UTSW	17	20554341	missense	possibly damaging	0.90
R5600:Vmn2r109	UTSW	17	20540927	missense	probably damaging	1.00
R5602:Vmn2r109	UTSW	17	20540671	missense	possibly damaging	0.94
R5652:Vmn2r109	UTSW	17	20540519	makesense	probably null
R5702:Vmn2r109	UTSW	17	20554145	missense	probably benign	0.42
R5706:Vmn2r109	UTSW	17	20554305	missense	probably benign	0.16
R5714:Vmn2r109	UTSW	17	20552859	missense	probably damaging	1.00
R5832:Vmn2r109	UTSW	17	20541056	missense	probably benign	0.10
R6008:Vmn2r109	UTSW	17	20540719	missense	probably damaging	1.00
R6334:Vmn2r109	UTSW	17	20541178	missense	probably benign	0.18
R6377:Vmn2r109	UTSW	17	20564534	critical splice donor site	probably null
R6738:Vmn2r109	UTSW	17	20554523	missense	possibly damaging	0.52
R6857:Vmn2r109	UTSW	17	20540670	missense	probably benign	0.45
R6953:Vmn2r109	UTSW	17	20540711	missense	possibly damaging	0.95
R7108:Vmn2r109	UTSW	17	20564744	missense	probably benign	0.03
R7229:Vmn2r109	UTSW	17	20540963	missense	possibly damaging	0.80
R7238:Vmn2r109	UTSW	17	20541074	missense	probably damaging	1.00
R7244:Vmn2r109	UTSW	17	20540683	missense	possibly damaging	0.70
R7292:Vmn2r109	UTSW	17	20541438	missense	probably benign	0.05
R7354:Vmn2r109	UTSW	17	20540781	missense	probably damaging	1.00
R7357:Vmn2r109	UTSW	17	20541274	missense	probably damaging	1.00
R7522:Vmn2r109	UTSW	17	20554403	missense	probably benign	0.11
R7596:Vmn2r109	UTSW	17	20540680	missense	probably damaging	0.98
R7728:Vmn2r109	UTSW	17	20552855	missense	probably damaging	0.99
R7859:Vmn2r109	UTSW	17	20541174	missense	probably damaging	1.00
R7871:Vmn2r109	UTSW	17	20540520	missense	probably benign	0.08
R8113:Vmn2r109	UTSW	17	20554467	missense	probably benign	0.01
R8153:Vmn2r109	UTSW	17	20564707	missense	probably benign	0.11
R8977:Vmn2r109	UTSW	17	20554269	missense	possibly damaging	0.96
R9687:Vmn2r109	UTSW	17	20555070	missense
Z1176:Vmn2r109	UTSW	17	20552994	missense	probably benign	0.00

Posted On

2013-10-07