Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02444:Vmn2r42'

293491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r42

Ensembl Gene

ENSMUSG00000070844

Gene Name

vomeronasal 2, receptor 42

Synonyms

V2r4

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02444

Quality Score

Status

Chromosome

Chromosomal Location

8186264-8203319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8187312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 770 (A770E)

Ref Sequence

ENSEMBL: ENSMUSP00000119761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086282] [ENSMUST00000142934] [ENSMUST00000146278]

AlphaFold

O35192

Predicted Effect

probably damaging
Transcript: ENSMUST00000086282
AA Change: A820E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083463
Gene: ENSMUSG00000070844
AA Change: A820E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	470	1.6e-33	PFAM
Pfam:NCD3G	512	565	8.1e-21	PFAM
Pfam:7tm_3	598	833	2.8e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136957

Predicted Effect

probably benign
Transcript: ENSMUST00000142934

SMART Domains

Protein: ENSMUSP00000123451
Gene: ENSMUSG00000070844

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	7.4e-34	PFAM
Pfam:NCD3G	512	563	4.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146278
AA Change: A770E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119761
Gene: ENSMUSG00000070844
AA Change: A770E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	1.9e-33	PFAM
Pfam:NCD3G	512	565	6.7e-17	PFAM
Pfam:7tm_3	548	784	2e-78	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,710 (GRCm39)	I260T	possibly damaging	Het
Arhgap9	T	A	10: 127,163,816 (GRCm39)	V484D	probably damaging	Het
Asph	A	G	4: 9,542,319 (GRCm39)		probably benign	Het
Bbs9	T	C	9: 22,555,083 (GRCm39)	S457P	probably damaging	Het
Bckdk	A	G	7: 127,506,618 (GRCm39)	T38A	probably damaging	Het
Cast	G	A	13: 74,887,972 (GRCm39)	T240I	probably damaging	Het
Cdc27	T	C	11: 104,413,542 (GRCm39)		probably benign	Het
Cdon	T	C	9: 35,384,744 (GRCm39)	S677P	probably benign	Het
Cfap161	T	C	7: 83,425,353 (GRCm39)	E246G	probably damaging	Het
Dnah11	G	A	12: 117,939,608 (GRCm39)		probably benign	Het
Dnm3	C	T	1: 161,838,444 (GRCm39)	V835I	possibly damaging	Het
Eif3a	T	C	19: 60,762,045 (GRCm39)	H510R	possibly damaging	Het
Fbxw2	G	T	2: 34,695,793 (GRCm39)	T367K	probably benign	Het
Ghsr	T	C	3: 27,426,189 (GRCm39)	S82P	probably benign	Het
Gm4353	C	T	7: 115,682,679 (GRCm39)	V301I	probably benign	Het
Golgb1	T	C	16: 36,728,178 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,609,860 (GRCm39)	M650L	possibly damaging	Het
Herc4	T	C	10: 63,142,212 (GRCm39)	V671A	probably benign	Het
Iqcb1	T	A	16: 36,652,273 (GRCm39)	Y61*	probably null	Het
Irs2	C	T	8: 11,056,306 (GRCm39)	G709S	probably benign	Het
Itpripl1	T	G	2: 126,983,621 (GRCm39)	H167P	possibly damaging	Het
Kcnn3	T	C	3: 89,559,359 (GRCm39)	V543A	possibly damaging	Het
Klf10	T	A	15: 38,298,068 (GRCm39)	K43M	probably damaging	Het
Lcor	C	T	19: 41,547,450 (GRCm39)	R345C	probably damaging	Het
Lmntd2	A	G	7: 140,791,832 (GRCm39)	S304P	probably damaging	Het
Lpar3	T	C	3: 145,946,949 (GRCm39)	I209T	probably damaging	Het
Map3k13	T	A	16: 21,732,982 (GRCm39)	M528K	probably benign	Het
Me1	A	T	9: 86,464,967 (GRCm39)		probably benign	Het
Nedd4l	T	G	18: 65,337,028 (GRCm39)		probably benign	Het
Oas1d	T	A	5: 121,058,071 (GRCm39)	F338L	probably benign	Het
Or1b1	G	T	2: 36,994,786 (GRCm39)	P292Q	probably damaging	Het
Or2c1	T	C	16: 3,657,551 (GRCm39)	F238S	probably damaging	Het
Pcdhb5	T	C	18: 37,454,103 (GRCm39)	V161A	probably benign	Het
Prdx3	A	T	19: 60,859,899 (GRCm39)	F91L	possibly damaging	Het
Rab25	T	C	3: 88,450,020 (GRCm39)	T114A	probably benign	Het
Rasal2	T	C	1: 157,126,765 (GRCm39)	E73G	probably benign	Het
Slco4c1	A	G	1: 96,772,234 (GRCm39)	S252P	probably damaging	Het
Srgap2	A	C	1: 131,252,891 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,735,502 (GRCm39)	S576P	probably damaging	Het
Tktl2	G	T	8: 66,966,013 (GRCm39)	A524S	possibly damaging	Het
Tln2	A	T	9: 67,165,874 (GRCm39)		probably benign	Het
Tmem52	G	A	4: 155,554,850 (GRCm39)	D158N	probably damaging	Het
Tyw3	T	A	3: 154,302,626 (GRCm39)	Q36L	probably damaging	Het
Usp10	A	T	8: 120,675,432 (GRCm39)	I483F	possibly damaging	Het
Usp31	A	G	7: 121,278,718 (GRCm39)	Y216H	probably damaging	Het
Vmn1r181	T	C	7: 23,683,948 (GRCm39)	S138P	probably damaging	Het
Zfp292	A	C	4: 34,808,810 (GRCm39)	S1411R	possibly damaging	Het

Other mutations in Vmn2r42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02793:Vmn2r42	APN	7	8,197,852 (GRCm39)	missense	probably benign	0.00
IGL02875:Vmn2r42	APN	7	8,197,852 (GRCm39)	missense	probably benign	0.00
R1743:Vmn2r42	UTSW	7	8,187,264 (GRCm39)	missense	probably benign	0.06
R3943:Vmn2r42	UTSW	7	8,197,779 (GRCm39)	missense	possibly damaging	0.93
R4117:Vmn2r42	UTSW	7	8,197,839 (GRCm39)	missense	probably damaging	1.00
R4760:Vmn2r42	UTSW	7	8,187,276 (GRCm39)	missense	probably damaging	1.00
R5233:Vmn2r42	UTSW	7	8,197,837 (GRCm39)	nonsense	probably null
R6245:Vmn2r42	UTSW	7	8,195,733 (GRCm39)	missense	probably damaging	1.00
R6683:Vmn2r42	UTSW	7	8,187,224 (GRCm39)	missense	probably damaging	0.98
R6709:Vmn2r42	UTSW	7	8,195,618 (GRCm39)	missense	probably benign	0.09
R7396:Vmn2r42	UTSW	7	8,195,641 (GRCm39)	missense	probably benign	0.00
R7450:Vmn2r42	UTSW	7	8,187,220 (GRCm39)	missense	probably benign	0.00
R7583:Vmn2r42	UTSW	7	8,197,740 (GRCm39)	nonsense	probably null
R7973:Vmn2r42	UTSW	7	8,197,872 (GRCm39)	missense	probably benign	0.03
R8777:Vmn2r42	UTSW	7	8,195,692 (GRCm39)	missense	probably benign	0.14
R8777-TAIL:Vmn2r42	UTSW	7	8,195,692 (GRCm39)	missense	probably benign	0.14
R8900:Vmn2r42	UTSW	7	8,197,792 (GRCm39)	missense	probably benign	0.15
R8972:Vmn2r42	UTSW	7	8,187,331 (GRCm39)	missense	probably damaging	1.00
R9335:Vmn2r42	UTSW	7	8,197,758 (GRCm39)	missense	probably damaging	0.99
R9453:Vmn2r42	UTSW	7	8,187,295 (GRCm39)	missense	probably benign	0.39

Posted On

2015-04-16