Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03026:Or6c38'

408174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c38

Ensembl Gene

ENSMUSG00000050198

Gene Name

olfactory receptor family 6 subfamily C member 38

Synonyms

MOR114-4, Olfr768, GA_x6K02T2PULF-10779441-10778503

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

128928903-128929841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128929057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 262 (A262V)

Ref Sequence

ENSEMBL: ENSMUSP00000089619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063031]

AlphaFold

Q8VGC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063031
AA Change: A262V

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: A262V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.7e-50	PFAM
Pfam:7tm_1	39	288	5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216681

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,516 (GRCm39)	V154A	possibly damaging	Het
Adcy4	T	C	14: 56,015,467 (GRCm39)	Y481C	probably damaging	Het
Adcy5	T	C	16: 34,977,412 (GRCm39)	V315A	probably benign	Het
Atf7ip	G	A	6: 136,582,380 (GRCm39)	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,446,141 (GRCm39)	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777 (GRCm39)	K254N	probably benign	Het
Dnajc10	A	G	2: 80,179,647 (GRCm39)	D727G	probably damaging	Het
Dsg3	G	A	18: 20,670,029 (GRCm39)		probably null	Het
Ehmt1	T	C	2: 24,742,746 (GRCm39)	M478V	probably benign	Het
Enam	A	T	5: 88,651,158 (GRCm39)	N889I	probably benign	Het
Exo1	G	T	1: 175,736,003 (GRCm39)	*148L	probably null	Het
Fam133b	G	T	5: 3,609,646 (GRCm39)		probably benign	Het
Foxj2	G	A	6: 122,815,139 (GRCm39)	A392T	probably benign	Het
Gbp4	G	T	5: 105,267,866 (GRCm39)	A460E	possibly damaging	Het
H1f5	G	A	13: 21,964,117 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,605,242 (GRCm39)	I483F	probably benign	Het
Irak2	T	A	6: 113,653,612 (GRCm39)	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,512,199 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,837,760 (GRCm39)	V936A	probably benign	Het
Lmo7	C	T	14: 102,166,769 (GRCm39)		probably benign	Het
Morc3	T	A	16: 93,659,612 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,226,414 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,027,742 (GRCm39)	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,664,634 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,285 (GRCm39)	I46F	probably damaging	Het
Or6c65	A	T	10: 129,603,910 (GRCm39)	M182L	probably benign	Het
Pkd2	A	T	5: 104,642,753 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,792,349 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,302,695 (GRCm39)		probably benign	Het
Rfx7	T	C	9: 72,526,967 (GRCm39)	S1386P	probably damaging	Het
Ric1	T	G	19: 29,577,233 (GRCm39)	W1046G	probably benign	Het
Rrp12	C	A	19: 41,861,436 (GRCm39)	R957L	probably damaging	Het
Scn7a	T	C	2: 66,506,442 (GRCm39)	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,479,262 (GRCm39)	N236S	probably damaging	Het
Skint6	T	A	4: 112,848,441 (GRCm39)		probably null	Het
Slfn5	T	C	11: 82,847,387 (GRCm39)	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,774,261 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,249,046 (GRCm39)	L546P	probably benign	Het
Tas1r3	A	G	4: 155,946,300 (GRCm39)		probably benign	Het
Trim75	A	G	8: 65,436,438 (GRCm39)	V4A	probably benign	Het
Usp19	T	C	9: 108,370,344 (GRCm39)	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,684,000 (GRCm39)	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,258,096 (GRCm39)	D372E	probably benign	Het
Vstm2b	C	A	7: 40,551,945 (GRCm39)	S99*	probably null	Het
Wdr11	A	G	7: 129,226,060 (GRCm39)	D735G	probably damaging	Het
Wee2	T	A	6: 40,438,915 (GRCm39)	M346K	probably benign	Het
Zap70	A	G	1: 36,818,798 (GRCm39)	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,263,680 (GRCm39)	H226L	possibly damaging	Het

Other mutations in Or6c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Or6c38	APN	10	128,929,265 (GRCm39)	missense	probably benign	0.08
IGL01947:Or6c38	APN	10	128,929,747 (GRCm39)	missense	possibly damaging	0.52
R1353:Or6c38	UTSW	10	128,929,733 (GRCm39)	missense	probably benign	0.14
R1426:Or6c38	UTSW	10	128,929,559 (GRCm39)	missense	probably damaging	1.00
R1766:Or6c38	UTSW	10	128,929,616 (GRCm39)	missense	probably benign	0.24
R2356:Or6c38	UTSW	10	128,929,761 (GRCm39)	missense	probably benign	0.40
R3522:Or6c38	UTSW	10	128,929,711 (GRCm39)	missense	possibly damaging	0.93
R3751:Or6c38	UTSW	10	128,929,175 (GRCm39)	missense	probably damaging	1.00
R3779:Or6c38	UTSW	10	128,929,165 (GRCm39)	missense	possibly damaging	0.94
R4582:Or6c38	UTSW	10	128,929,027 (GRCm39)	missense	possibly damaging	0.93
R4772:Or6c38	UTSW	10	128,929,537 (GRCm39)	missense	possibly damaging	0.92
R4792:Or6c38	UTSW	10	128,929,489 (GRCm39)	missense	probably damaging	1.00
R5749:Or6c38	UTSW	10	128,928,966 (GRCm39)	missense	probably damaging	0.98
R6571:Or6c38	UTSW	10	128,928,990 (GRCm39)	missense	probably damaging	0.98
R6619:Or6c38	UTSW	10	128,929,323 (GRCm39)	missense	possibly damaging	0.95
R7052:Or6c38	UTSW	10	128,929,744 (GRCm39)	missense	probably damaging	0.98
R7096:Or6c38	UTSW	10	128,929,715 (GRCm39)	missense	probably damaging	0.97
R7409:Or6c38	UTSW	10	128,929,081 (GRCm39)	missense	probably damaging	1.00
R7852:Or6c38	UTSW	10	128,929,385 (GRCm39)	missense	probably benign	0.45
R8332:Or6c38	UTSW	10	128,929,174 (GRCm39)	missense	possibly damaging	0.95
R9183:Or6c38	UTSW	10	128,929,201 (GRCm39)	missense	probably benign	0.06
R9245:Or6c38	UTSW	10	128,929,472 (GRCm39)	missense	probably damaging	1.00
X0024:Or6c38	UTSW	10	128,929,216 (GRCm39)	missense	probably damaging	1.00
X0024:Or6c38	UTSW	10	128,928,984 (GRCm39)	missense	possibly damaging	0.95

Posted On

2016-08-02