Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Vmn1r218'

416952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r218

Ensembl Gene

ENSMUSG00000115020

Gene Name

vomeronasal 1 receptor 218

Synonyms

V1ri5

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

23133155-23146112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23136618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 45 (L45P)

Ref Sequence

ENSEMBL: ENSMUSP00000154543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074992] [ENSMUST00000226692] [ENSMUST00000227050] [ENSMUST00000227160] [ENSMUST00000227741]

AlphaFold

Q8R261

Predicted Effect

probably damaging
Transcript: ENSMUST00000074992
AA Change: L45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: L45P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	288	2e-7	PFAM
Pfam:V1R	33	297	5.4e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226692
AA Change: L45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227050
AA Change: L45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227160

Predicted Effect

probably benign
Transcript: ENSMUST00000227741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228348

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Vmn1r218

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02014:Vmn1r218	APN	13	23136831	missense	probably damaging	0.97
IGL02670:Vmn1r218	APN	13	23137004	missense	probably benign	0.01
IGL03085:Vmn1r218	APN	13	23137311	missense	possibly damaging	0.76
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R1387:Vmn1r218	UTSW	13	23137308	missense	probably damaging	1.00
R1959:Vmn1r218	UTSW	13	23136513	missense	probably damaging	0.96
R3713:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R3714:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R4037:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4038:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4039:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4432:Vmn1r218	UTSW	13	23137242	missense	possibly damaging	0.87
R5255:Vmn1r218	UTSW	13	23136711	missense	possibly damaging	0.92
R5521:Vmn1r218	UTSW	13	23136573	missense	probably benign	0.01
R7384:Vmn1r218	UTSW	13	23136725	missense	probably benign	0.00
R7565:Vmn1r218	UTSW	13	23136660	missense	probably benign	0.05
R8178:Vmn1r218	UTSW	13	23137302	missense	probably benign	0.08
R8536:Vmn1r218	UTSW	13	23137365	missense	probably benign	0.00
R9225:Vmn1r218	UTSW	13	23136654	missense	probably benign	0.04
R9609:Vmn1r218	UTSW	13	23136669	missense	probably benign	0.01
R9734:Vmn1r218	UTSW	13	23136864	missense	probably damaging	1.00

Posted On

2016-08-02