Mutagenetix > Incidental Mutation

Incidental Mutation 'R2363:Or8c10'

247230

Institutional Source

Beutler Lab

Gene Symbol

Or8c10

Ensembl Gene

ENSMUSG00000049864

Gene Name

olfactory receptor family 8 subfamily C member 10

Synonyms

GA_x6K02T2PVTD-32060891-32061865, MOR170-8, MOR170-14, GA_x6K02T2MYUG-19447-18473, Olfr899, Olfr250

MMRRC Submission

040344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38278844-38279839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38279394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 174 (I174T)

Ref Sequence

ENSEMBL: ENSMUSP00000150432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052085] [ENSMUST00000216168]

AlphaFold

E9PV37

Predicted Effect

probably damaging
Transcript: ENSMUST00000052085
AA Change: I184T

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

SMART Domains

Protein: ENSMUSP00000051631
Gene: ENSMUSG00000049864
AA Change: I184T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	317	1.2e-46	PFAM
Pfam:7tm_1	51	300	3.7e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216168
AA Change: I174T

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

Meta Mutation Damage Score

0.6196

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (51/52)

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
Abtb2	T	C	2: 103,397,528 (GRCm39)	C153R	probably damaging	Het
Adam23	A	G	1: 63,596,650 (GRCm39)		probably null	Het
Adpgk	G	T	9: 59,222,136 (GRCm39)	M354I	probably benign	Het
Atmin	G	T	8: 117,681,653 (GRCm39)		probably null	Het
C1rl	G	A	6: 124,486,069 (GRCm39)	G480D	probably benign	Het
C4b	G	A	17: 34,955,032 (GRCm39)		probably benign	Het
Cacnb1	G	A	11: 97,903,672 (GRCm39)	T127I	possibly damaging	Het
Cmya5	A	T	13: 93,230,210 (GRCm39)	V1626E	probably benign	Het
Cndp2	C	T	18: 84,686,694 (GRCm39)	G443S	probably damaging	Het
Crb1	A	G	1: 139,265,016 (GRCm39)	I134T	possibly damaging	Het
Dnaaf3	T	C	7: 4,535,276 (GRCm39)		probably null	Het
Enam	C	T	5: 88,651,008 (GRCm39)	P764L	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbln1	G	A	15: 85,111,341 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,945,950 (GRCm38)	I2452V	possibly damaging	Het
Fmo3	A	T	1: 162,781,884 (GRCm39)	W490R	probably damaging	Het
Gabrb1	C	T	5: 72,026,916 (GRCm39)	R106*	probably null	Het
Galnt4	C	T	10: 98,944,923 (GRCm39)	T216I	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Golph3	A	G	15: 12,349,649 (GRCm39)	D223G	probably benign	Het
Herc4	T	A	10: 63,151,473 (GRCm39)	F905I	possibly damaging	Het
Il23r	T	C	6: 67,429,401 (GRCm39)	T314A	probably benign	Het
Lrrtm4	T	C	6: 79,998,857 (GRCm39)	W90R	probably damaging	Het
Maml2	C	T	9: 13,532,541 (GRCm39)	T585I	probably damaging	Het
Mpp3	G	A	11: 101,911,312 (GRCm39)	A170V	probably damaging	Het
Naip6	T	A	13: 100,452,928 (GRCm39)	K44N	possibly damaging	Het
Or10aa3	C	T	1: 173,878,814 (GRCm39)	R292C	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e17	A	G	11: 73,831,182 (GRCm39)	T37A	possibly damaging	Het
Or4k51	C	T	2: 111,585,139 (GRCm39)	P182S	probably damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Or6f2	A	G	7: 139,756,878 (GRCm39)	T282A	probably damaging	Het
Or7e165	T	G	9: 19,694,892 (GRCm39)	I154M	probably benign	Het
Pak1	T	A	7: 97,535,521 (GRCm39)	V204E	probably benign	Het
Pcdhb10	T	A	18: 37,547,190 (GRCm39)	C755*	probably null	Het
Pcdhb20	A	G	18: 37,638,725 (GRCm39)	Y417C	probably damaging	Het
Pkd1l3	G	T	8: 110,355,341 (GRCm39)	W723L	probably benign	Het
Plin1	C	T	7: 79,376,139 (GRCm39)		probably null	Het
Polr3a	A	T	14: 24,525,960 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,314,758 (GRCm39)	K1826I	possibly damaging	Het
Rapgef1	A	G	2: 29,626,608 (GRCm39)	I970V	possibly damaging	Het
Rdx	C	A	9: 51,980,173 (GRCm39)	F255L	probably damaging	Het
Rp1l1	A	T	14: 64,267,447 (GRCm39)	H1011L	possibly damaging	Het
Serpina6	T	C	12: 103,614,868 (GRCm39)	D326G	probably benign	Het
Sh3tc2	A	G	18: 62,123,966 (GRCm39)	E909G	probably benign	Het
Shprh	T	A	10: 11,047,697 (GRCm39)	V1015D	probably damaging	Het
Slfn8	A	T	11: 82,894,920 (GRCm39)	Y629N	probably damaging	Het
Triml1	A	G	8: 43,594,408 (GRCm39)	S8P	probably damaging	Het

Other mutations in Or8c10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Or8c10	APN	9	38,279,346 (GRCm39)	missense	probably benign	0.01
IGL02073:Or8c10	APN	9	38,279,603 (GRCm39)	missense	probably damaging	1.00
IGL02499:Or8c10	APN	9	38,278,977 (GRCm39)	missense	probably benign	0.12
IGL03011:Or8c10	APN	9	38,279,364 (GRCm39)	missense	possibly damaging	0.89
R0313:Or8c10	UTSW	9	38,279,600 (GRCm39)	missense	probably damaging	1.00
R1457:Or8c10	UTSW	9	38,279,492 (GRCm39)	missense	probably benign	0.01
R1546:Or8c10	UTSW	9	38,278,844 (GRCm39)	start codon destroyed	probably benign
R1665:Or8c10	UTSW	9	38,278,862 (GRCm39)	missense	probably benign
R1718:Or8c10	UTSW	9	38,278,890 (GRCm39)	missense	probably benign	0.00
R1861:Or8c10	UTSW	9	38,278,902 (GRCm39)	missense	probably benign	0.08
R1900:Or8c10	UTSW	9	38,279,360 (GRCm39)	missense	probably benign	0.05
R4270:Or8c10	UTSW	9	38,278,997 (GRCm39)	missense	probably damaging	1.00
R5058:Or8c10	UTSW	9	38,279,220 (GRCm39)	missense	probably damaging	1.00
R5083:Or8c10	UTSW	9	38,279,358 (GRCm39)	missense	possibly damaging	0.87
R5422:Or8c10	UTSW	9	38,279,270 (GRCm39)	missense	probably benign	0.05
R5630:Or8c10	UTSW	9	38,279,402 (GRCm39)	missense	probably damaging	1.00
R6559:Or8c10	UTSW	9	38,279,052 (GRCm39)	missense	probably damaging	1.00
R8313:Or8c10	UTSW	9	38,279,346 (GRCm39)	missense	probably damaging	0.97
R8869:Or8c10	UTSW	9	38,279,142 (GRCm39)	missense	possibly damaging	0.69
R9163:Or8c10	UTSW	9	38,279,378 (GRCm39)	missense	probably damaging	1.00
R9217:Or8c10	UTSW	9	38,279,268 (GRCm39)	missense	probably damaging	1.00
R9331:Or8c10	UTSW	9	38,279,003 (GRCm39)	missense	probably benign	0.01
R9419:Or8c10	UTSW	9	38,279,162 (GRCm39)	missense	probably damaging	1.00
R9491:Or8c10	UTSW	9	38,278,971 (GRCm39)	missense	possibly damaging	0.94
R9631:Or8c10	UTSW	9	38,279,714 (GRCm39)	missense	possibly damaging	0.58
R9643:Or8c10	UTSW	9	38,278,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATGTGCTGACAGCCATG -3'
(R):5'- ATATGAGAGCTACATGTGCTCACAG -3'

Sequencing Primer
(F):5'- CTGACAGCCATGGCCTATGATAG -3'
(R):5'- GCTTTGGACCAACCCTTAGATGATG -3'

Posted On

2014-10-30