Mutagenetix > Incidental Mutation

Incidental Mutation 'R3970:Or8c11'

310924

Institutional Source

Beutler Lab

Gene Symbol

Or8c11

Ensembl Gene

ENSMUSG00000096757

Gene Name

olfactory receptor family 8 subfamily C member 11

Synonyms

GA_x6K02T2PVTD-32071567-32072508, Olfr900, GA_x6K02T2MYUG-9124-8183, MOR170-2, MOR170-13, MOR170-15, Olfr251

MMRRC Submission

040938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R3970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38289179-38290129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38289222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000072514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072731] [ENSMUST00000214865]

AlphaFold

E9Q891

Predicted Effect

probably damaging
Transcript: ENSMUST00000072731
AA Change: V15A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072514
Gene: ENSMUSG00000096757
AA Change: V15A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	313	9.8e-50	PFAM
Pfam:7tm_1	47	296	4.2e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214865
AA Change: V9A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.5031

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (53/55)

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
2510039O18Rik	T	C	4: 148,029,779 (GRCm39)	M583T	probably damaging	Het
Actn4	T	C	7: 28,661,457 (GRCm39)	K51R	probably benign	Het
Adamts15	T	C	9: 30,821,898 (GRCm39)	Y513C	probably benign	Het
Akap13	T	A	7: 75,219,699 (GRCm39)	L34*	probably null	Het
Akap6	A	T	12: 53,188,236 (GRCm39)	K1883N	probably damaging	Het
Ano1	T	C	7: 144,161,700 (GRCm39)	N749D	probably benign	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cherp	T	C	8: 73,223,795 (GRCm39)	H196R	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,890,838 (GRCm39)	T392S	unknown	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Csf2rb	T	C	15: 78,225,667 (GRCm39)	V286A	probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Kif5c	A	G	2: 49,578,756 (GRCm39)	E128G	probably damaging	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Myof	C	T	19: 37,889,711 (GRCm39)	V1287M	probably damaging	Het
Myof	T	G	19: 38,011,058 (GRCm39)	D60A	possibly damaging	Het
Myrf	A	G	19: 10,200,601 (GRCm39)	L332P	probably damaging	Het
Nampt	T	A	12: 32,883,095 (GRCm39)	D93E	probably benign	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,501,568 (GRCm39)	A45E	probably damaging	Het
Obscn	G	A	11: 58,942,488 (GRCm39)	P4898L	probably damaging	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pcdh8	C	T	14: 80,007,706 (GRCm39)	G286S	possibly damaging	Het
Pcdha2	C	A	18: 37,073,750 (GRCm39)	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,820,654 (GRCm39)	L734F	possibly damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pign	A	C	1: 105,583,728 (GRCm39)	S125A	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,824,218 (GRCm39)	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,546,171 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Pramel4	A	T	4: 143,795,044 (GRCm39)	N477I	possibly damaging	Het
Psd	C	T	19: 46,312,845 (GRCm39)	R175H	probably benign	Het
Sema3g	T	C	14: 30,948,478 (GRCm39)		probably null	Het
Sf3b1	G	A	1: 55,051,341 (GRCm39)	R196*	probably null	Het
Slc26a4	G	T	12: 31,578,686 (GRCm39)	H656N	probably damaging	Het
Slc6a7	A	C	18: 61,136,417 (GRCm39)	L328R	possibly damaging	Het
Stab2	T	C	10: 86,714,750 (GRCm39)	T139A	probably damaging	Het
Tiam2	T	A	17: 3,479,106 (GRCm39)	I613N	probably damaging	Het
Tlk1	A	G	2: 70,546,996 (GRCm39)	V695A	probably damaging	Het
Trpc2	A	G	7: 101,733,531 (GRCm39)	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,057,315 (GRCm39)	V491A	probably damaging	Het
Vwa7	G	A	17: 35,236,684 (GRCm39)	A84T	probably damaging	Het
Zfp219	T	A	14: 52,244,421 (GRCm39)	Q541L	probably benign	Het

Other mutations in Or8c11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02013:Or8c11	APN	9	38,289,373 (GRCm39)	missense	probably benign	0.31
IGL02131:Or8c11	APN	9	38,289,203 (GRCm39)	missense	probably benign	0.01
IGL02311:Or8c11	APN	9	38,289,194 (GRCm39)	nonsense	probably null
IGL02377:Or8c11	APN	9	38,289,542 (GRCm39)	missense	probably damaging	1.00
R0284:Or8c11	UTSW	9	38,289,880 (GRCm39)	missense	probably benign	0.00
R0412:Or8c11	UTSW	9	38,290,090 (GRCm39)	missense	probably damaging	0.98
R0903:Or8c11	UTSW	9	38,290,097 (GRCm39)	missense	probably benign	0.00
R1664:Or8c11	UTSW	9	38,289,548 (GRCm39)	missense	possibly damaging	0.93
R2902:Or8c11	UTSW	9	38,289,337 (GRCm39)	missense	possibly damaging	0.89
R4191:Or8c11	UTSW	9	38,289,648 (GRCm39)	missense	probably damaging	0.98
R4650:Or8c11	UTSW	9	38,289,699 (GRCm39)	missense	probably damaging	1.00
R4910:Or8c11	UTSW	9	38,290,038 (GRCm39)	missense	probably null	0.98
R5256:Or8c11	UTSW	9	38,289,213 (GRCm39)	missense	probably benign	0.00
R5385:Or8c11	UTSW	9	38,289,281 (GRCm39)	missense	probably benign
R5386:Or8c11	UTSW	9	38,289,281 (GRCm39)	missense	probably benign
R6005:Or8c11	UTSW	9	38,289,605 (GRCm39)	missense	probably damaging	1.00
R6268:Or8c11	UTSW	9	38,289,384 (GRCm39)	missense	probably benign	0.10
R6486:Or8c11	UTSW	9	38,289,200 (GRCm39)	missense	probably benign
R7019:Or8c11	UTSW	9	38,290,098 (GRCm39)	missense	possibly damaging	0.89
R7045:Or8c11	UTSW	9	38,289,729 (GRCm39)	missense	probably damaging	0.99
R7120:Or8c11	UTSW	9	38,289,945 (GRCm39)	missense	probably damaging	1.00
R7329:Or8c11	UTSW	9	38,289,456 (GRCm39)	missense	probably benign	0.00
R7703:Or8c11	UTSW	9	38,289,357 (GRCm39)	missense	probably benign	0.01
R8333:Or8c11	UTSW	9	38,289,912 (GRCm39)	missense	probably damaging	0.98
R8352:Or8c11	UTSW	9	38,289,647 (GRCm39)	missense	probably benign	0.01
R8452:Or8c11	UTSW	9	38,289,647 (GRCm39)	missense	probably benign	0.01
R8461:Or8c11	UTSW	9	38,289,777 (GRCm39)	missense	probably damaging	0.96
R8870:Or8c11	UTSW	9	38,289,720 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGACATTAGAGAGATCTGTCTTCAC -3'
(R):5'- CTCCTCAGCATTGTGGGGTTAG -3'

Sequencing Primer
(F):5'- CAGGAAATGGGACTTTTTGAGG -3'
(R):5'- CAGCATTGTGGGGTTAGAAACAAATG -3'

Posted On

2015-04-29