Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02821:Or8c13'

361030

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8c13

Ensembl Gene

ENSMUSG00000045528

Gene Name

olfactory receptor family 8 subfamily C member 13

Synonyms

Olfr891, GA_x6K02T2PVTD-31862167-31861217, MOR170-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

38091167-38092117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38091964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 52 (N52D)

Ref Sequence

ENSEMBL: ENSMUSP00000055451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062535]

AlphaFold

E9Q843

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062535
AA Change: N52D

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055451
Gene: ENSMUSG00000045528
AA Change: N52D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1e-37	PFAM
Pfam:7tm_1	41	289	9.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182282

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	T	C	14: 35,818,473 (GRCm39)	L157S	probably benign	Het
Adam15	A	G	3: 89,252,663 (GRCm39)	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,630,415 (GRCm39)	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,282,442 (GRCm39)	M402V	probably benign	Het
Anln	G	A	9: 22,269,418 (GRCm39)	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,260,125 (GRCm39)	V589A	probably benign	Het
Ccm2l	C	T	2: 152,909,779 (GRCm39)	L44F	probably damaging	Het
Cd177	A	T	7: 24,443,818 (GRCm39)	L760Q	probably damaging	Het
Cd177	G	T	7: 24,443,819 (GRCm39)	L760M	probably damaging	Het
Cfap69	T	C	5: 5,714,017 (GRCm39)	E5G	probably benign	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Col6a3	T	A	1: 90,731,600 (GRCm39)	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,586,593 (GRCm39)	V584A	probably benign	Het
Dop1a	C	A	9: 86,402,209 (GRCm39)	H1136Q	probably benign	Het
Egf	T	C	3: 129,496,128 (GRCm39)	E329G	probably damaging	Het
Eif3c	A	G	7: 126,157,831 (GRCm39)	V337A	probably benign	Het
Eif3f	G	T	7: 108,533,881 (GRCm39)		probably benign	Het
Eif3f	C	T	7: 108,533,882 (GRCm39)		probably benign	Het
Evc	T	A	5: 37,483,740 (GRCm39)	I187F	probably benign	Het
Fam117a	T	G	11: 95,254,815 (GRCm39)		probably benign	Het
H2-M10.4	A	T	17: 36,771,323 (GRCm39)	V285E	probably damaging	Het
Hps4	G	T	5: 112,523,307 (GRCm39)	M608I	probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Itgam	A	T	7: 127,675,281 (GRCm39)	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,570,029 (GRCm39)	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,428,281 (GRCm39)	N169S	possibly damaging	Het
Mn1	A	T	5: 111,569,717 (GRCm39)	K1229M	probably damaging	Het
Ms4a19	A	G	19: 11,118,897 (GRCm39)	*71Q	probably null	Het
Nckap5	A	G	1: 125,955,553 (GRCm39)	M401T	probably damaging	Het
Or1af1	T	C	2: 37,110,112 (GRCm39)	S204P	probably damaging	Het
Or8d4	T	G	9: 40,038,561 (GRCm39)	E232A	probably benign	Het
Pttg1ip2	G	A	5: 5,502,039 (GRCm39)	Q138*	probably null	Het
Sim2	G	A	16: 93,898,047 (GRCm39)	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,822,822 (GRCm39)	T340M	probably benign	Het
Ssc4d	A	G	5: 135,994,923 (GRCm39)		probably benign	Het
Trav12-1	A	G	14: 53,775,916 (GRCm39)	D22G	probably damaging	Het
Trgv4	T	A	13: 19,369,422 (GRCm39)	D55E	possibly damaging	Het
Trps1	G	A	15: 50,524,273 (GRCm39)	T969M	probably damaging	Het
Ttn	T	A	2: 76,719,894 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,470,458 (GRCm39)	N310S	probably benign	Het
Vapa	T	C	17: 65,889,756 (GRCm39)		probably benign	Het
Vmn1r65	T	C	7: 6,011,893 (GRCm39)	T114A	possibly damaging	Het
Vps13d	T	C	4: 144,875,332 (GRCm39)	E1725G	probably damaging	Het
Vps53	A	G	11: 76,027,143 (GRCm39)		probably benign	Het
Xkr9	T	C	1: 13,742,799 (GRCm39)	L28P	probably damaging	Het

Other mutations in Or8c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02987:Or8c13	APN	9	38,091,919 (GRCm39)	missense	possibly damaging	0.89
R0032:Or8c13	UTSW	9	38,091,904 (GRCm39)	missense	probably damaging	1.00
R1604:Or8c13	UTSW	9	38,091,645 (GRCm39)	missense	probably benign	0.12
R1678:Or8c13	UTSW	9	38,091,933 (GRCm39)	missense	possibly damaging	0.65
R2230:Or8c13	UTSW	9	38,091,442 (GRCm39)	missense	probably benign	0.00
R4391:Or8c13	UTSW	9	38,091,645 (GRCm39)	missense	probably damaging	0.99
R4470:Or8c13	UTSW	9	38,091,666 (GRCm39)	missense	probably damaging	0.96
R4803:Or8c13	UTSW	9	38,091,546 (GRCm39)	missense	probably damaging	1.00
R4865:Or8c13	UTSW	9	38,091,196 (GRCm39)	missense	possibly damaging	0.53
R5652:Or8c13	UTSW	9	38,092,111 (GRCm39)	missense	probably benign	0.01
R5743:Or8c13	UTSW	9	38,092,014 (GRCm39)	missense	probably benign
R7088:Or8c13	UTSW	9	38,091,748 (GRCm39)	missense	probably damaging	1.00
R7097:Or8c13	UTSW	9	38,091,632 (GRCm39)	nonsense	probably null
R7214:Or8c13	UTSW	9	38,091,318 (GRCm39)	missense	probably damaging	1.00
R7631:Or8c13	UTSW	9	38,092,002 (GRCm39)	missense	probably damaging	1.00
R8315:Or8c13	UTSW	9	38,091,505 (GRCm39)	missense	probably benign	0.25
R8327:Or8c13	UTSW	9	38,091,186 (GRCm39)	missense	possibly damaging	0.72
R8894:Or8c13	UTSW	9	38,091,370 (GRCm39)	missense	probably damaging	1.00
R9055:Or8c13	UTSW	9	38,091,780 (GRCm39)	missense	probably damaging	1.00
R9325:Or8c13	UTSW	9	38,091,327 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18