Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Or8c13'

329376

Institutional Source

Beutler Lab

Gene Symbol

Or8c13

Ensembl Gene

ENSMUSG00000045528

Gene Name

olfactory receptor family 8 subfamily C member 13

Synonyms

Olfr891, GA_x6K02T2PVTD-31862167-31861217, MOR170-9

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

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

Stock #

R4470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38091167-38092117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38091666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 151 (M151T)

Ref Sequence

ENSEMBL: ENSMUSP00000055451 (fasta)

Gene Model

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

AlphaFold

E9Q843

Predicted Effect

probably damaging
Transcript: ENSMUST00000062535
AA Change: M151T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055451
Gene: ENSMUSG00000045528
AA Change: M151T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Adgb	T	C	10: 10,274,695 (GRCm39)	N728S	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx19a	A	G	8: 111,703,111 (GRCm39)	V442A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah7c	T	A	1: 46,787,795 (GRCm39)	S3283T	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp148	T	C	16: 33,316,602 (GRCm39)	Y383H	probably damaging	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	probably damaging	Het

Other mutations in Or8c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02821:Or8c13	APN	9	38,091,964 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- AAACCCTTACCTGATAACTGAGTG -3'
(R):5'- AGGATGCATGACACAGCTG -3'

Sequencing Primer
(F):5'- GCTAGATGCAAGAACTACTGTGC -3'
(R):5'- AGGATGCATGACACAGCTGTTTTTC -3'

Posted On

2015-07-21