Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01542:Or10q12'

90186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or10q12

Ensembl Gene

ENSMUSG00000047207

Gene Name

olfactory receptor family 10 subfamily Q member 12

Synonyms

Olfr1495, GA_x6K02T2RE5P-4101369-4102328, MOR266-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL01542

Quality Score

Status

Chromosome

Chromosomal Location

13745708-13746667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13745901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 65 (F65S)

Ref Sequence

ENSEMBL: ENSMUSP00000150205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061669] [ENSMUST00000215930] [ENSMUST00000216980]

AlphaFold

Q8VEZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061669
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: F65S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.4e-52	PFAM
Pfam:7tm_1	45	295	1.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215930
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216980
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arhgap20	A	G	9: 51,750,187 (GRCm39)	M316V	probably benign	Het
Chd7	T	G	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Clock	T	C	5: 76,379,322 (GRCm39)	E538G	possibly damaging	Het
Clpb	G	A	7: 101,436,712 (GRCm39)	V596I	probably damaging	Het
Col9a3	T	C	2: 180,251,109 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,060,020 (GRCm39)		probably null	Het
Drd4	T	C	7: 140,873,744 (GRCm39)		probably benign	Het
Fam228b	A	T	12: 4,813,055 (GRCm39)	I105N	probably damaging	Het
Gm20939	A	T	17: 95,181,721 (GRCm39)		probably benign	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Hbs1l	T	C	10: 21,183,655 (GRCm39)	V132A	probably benign	Het
Kpna2	T	A	11: 106,882,027 (GRCm39)	E266D	probably benign	Het
Lars1	T	C	18: 42,347,892 (GRCm39)	E977G	probably benign	Het
Lrrn4	T	C	2: 132,721,392 (GRCm39)	T142A	probably benign	Het
Myo19	T	C	11: 84,800,372 (GRCm39)	L919P	probably damaging	Het
Nhlrc1	A	T	13: 47,167,607 (GRCm39)	F217I	probably damaging	Het
Plch1	T	C	3: 63,639,070 (GRCm39)	I468V	probably damaging	Het
Rergl	T	A	6: 139,470,496 (GRCm39)		probably null	Het
Sctr	A	G	1: 119,972,499 (GRCm39)		probably benign	Het
Sdhb	T	C	4: 140,700,278 (GRCm39)	V126A	probably benign	Het
Smad3	C	T	9: 63,562,868 (GRCm39)	R214Q	probably damaging	Het
Spmip3	A	G	1: 177,570,950 (GRCm39)	T95A	possibly damaging	Het
Tdrd9	T	C	12: 112,013,423 (GRCm39)	M1219T	possibly damaging	Het
Tmem167b	A	T	3: 108,466,222 (GRCm39)	N75K	possibly damaging	Het
Vmn2r83	T	C	10: 79,314,846 (GRCm39)	S365P	probably benign	Het
Vps16	T	C	2: 130,280,314 (GRCm39)	F153L	probably damaging	Het

Other mutations in Or10q12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Or10q12	APN	19	13,746,534 (GRCm39)	missense	probably benign	0.02
IGL02088:Or10q12	APN	19	13,746,030 (GRCm39)	missense	probably damaging	1.00
R1583:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.10
R1713:Or10q12	UTSW	19	13,746,659 (GRCm39)	missense	probably benign	0.00
R1859:Or10q12	UTSW	19	13,746,088 (GRCm39)	nonsense	probably null
R3717:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3718:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3881:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R4370:Or10q12	UTSW	19	13,746,315 (GRCm39)	missense	probably benign	0.02
R4873:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R4875:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R6335:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R6352:Or10q12	UTSW	19	13,745,828 (GRCm39)	missense	probably benign
R7038:Or10q12	UTSW	19	13,745,715 (GRCm39)	missense	probably benign
R7107:Or10q12	UTSW	19	13,746,525 (GRCm39)	missense	probably benign	0.22
R7504:Or10q12	UTSW	19	13,746,096 (GRCm39)	missense	probably damaging	1.00
R7626:Or10q12	UTSW	19	13,745,709 (GRCm39)	start codon destroyed	probably null	0.92
R7812:Or10q12	UTSW	19	13,746,380 (GRCm39)	missense	probably benign	0.05
R7852:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.00
R7860:Or10q12	UTSW	19	13,745,716 (GRCm39)	missense	probably benign	0.09
R8183:Or10q12	UTSW	19	13,746,086 (GRCm39)	missense	probably damaging	0.99
R8357:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8457:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8716:Or10q12	UTSW	19	13,746,185 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10q12	UTSW	19	13,745,780 (GRCm39)	missense	probably benign	0.22

Posted On

2013-12-03