Mutagenetix > Incidental Mutation

Incidental Mutation 'R4956:Or6c1'

381591

Institutional Source

Beutler Lab

Gene Symbol

Or6c1

Ensembl Gene

ENSMUSG00000093866

Gene Name

olfactory receptor family 6 subfamily C member 1

Synonyms

MOR111-1, Olfr802, GA_x6K02T2PULF-11361362-11360424

MMRRC Submission

042553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129517668-129518606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129517968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 213 (F213L)

Ref Sequence

ENSEMBL: ENSMUSP00000150123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074713] [ENSMUST00000203785] [ENSMUST00000217576]

AlphaFold

Q8VGJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000074713
AA Change: F213L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: F213L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	6.8e-56	PFAM
Pfam:7tm_1	39	288	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203785
AA Change: F213L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: F213L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	6.8e-56	PFAM
Pfam:7tm_1	39	288	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217576
AA Change: F213L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,672,816 (GRCm39)	K866E	probably damaging	Het
Afap1l2	T	C	19: 56,931,879 (GRCm39)	M49V	probably benign	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,599,643 (GRCm39)	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,764,501 (GRCm39)	C43R	probably damaging	Het
Axin2	T	C	11: 108,833,904 (GRCm39)	V617A	probably damaging	Het
Bltp3a	T	A	17: 28,108,958 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,614,316 (GRCm39)	F193Y	probably damaging	Het
Cdc27	T	C	11: 104,420,221 (GRCm39)	S141G	probably damaging	Het
Chst9	A	T	18: 15,851,045 (GRCm39)	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,079,233 (GRCm39)	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,216,354 (GRCm39)	D416E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407 (GRCm39)	T430A	possibly damaging	Het
Enah	G	A	1: 181,745,854 (GRCm39)	T401I	probably damaging	Het
Esp38	T	G	17: 40,266,053 (GRCm39)	I54R	probably damaging	Het
Ffar4	C	T	19: 38,086,028 (GRCm39)	R152W	probably benign	Het
Flvcr1	A	G	1: 190,758,383 (GRCm39)		probably benign	Het
Fzd9	G	A	5: 135,278,796 (GRCm39)	A363V	probably damaging	Het
Gadl1	T	A	9: 115,869,987 (GRCm39)	I451N	probably benign	Het
Hmg20a	A	G	9: 56,388,948 (GRCm39)	T172A	probably damaging	Het
Ints1	G	A	5: 139,742,885 (GRCm39)	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,758,768 (GRCm39)	A699V	probably benign	Het
Ipo9	A	G	1: 135,331,960 (GRCm39)		probably null	Het
Klra17	A	G	6: 129,850,279 (GRCm39)	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530 (GRCm39)	D280E	probably benign	Het
Mycbp2	A	G	14: 103,524,675 (GRCm39)	F662L	probably damaging	Het
Ncor1	T	A	11: 62,231,431 (GRCm39)	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,173,909 (GRCm39)	K431*	probably null	Het
Nos1	A	G	5: 118,085,575 (GRCm39)	N1301S	probably benign	Het
Obp2b	A	G	2: 25,627,087 (GRCm39)	T7A	probably damaging	Het
Odc1	T	C	12: 17,597,958 (GRCm39)	I95T	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4c127	G	A	2: 89,833,187 (GRCm39)	V146M	probably benign	Het
Or5b97	C	T	19: 12,878,963 (GRCm39)	M60I	probably damaging	Het
Or6ae1	A	G	7: 139,741,993 (GRCm39)	I290T	possibly damaging	Het
Pcif1	A	T	2: 164,731,610 (GRCm39)	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,067,780 (GRCm39)	L223R	probably damaging	Het
Plod3	A	G	5: 137,018,772 (GRCm39)	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,266,636 (GRCm39)	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166 (GRCm38)	V141I	probably benign	Het
Rcn1	A	T	2: 105,225,121 (GRCm39)	Y111*	probably null	Het
Rell2	G	A	18: 38,090,758 (GRCm39)	R145H	probably damaging	Het
Scaper	T	C	9: 55,745,426 (GRCm39)	K614R	probably damaging	Het
Scart2	A	G	7: 139,878,275 (GRCm39)	I1001V	probably benign	Het
Shbg	C	T	11: 69,508,045 (GRCm39)	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,244,247 (GRCm39)	P345L	possibly damaging	Het
Tchp	A	C	5: 114,857,681 (GRCm39)	E391D	probably damaging	Het
Timeless	A	G	10: 128,077,520 (GRCm39)	D200G	probably damaging	Het
Tspear	A	G	10: 77,700,601 (GRCm39)	T144A	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,624,820 (GRCm39)	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,268,436 (GRCm39)	T213I	probably benign	Het
Wtap	T	C	17: 13,186,423 (GRCm39)	T375A	probably benign	Het
Yipf2	T	G	9: 21,503,204 (GRCm39)	T88P	probably damaging	Het
Zfp382	T	A	7: 29,830,979 (GRCm39)	D89E	probably benign	Het
Zfp955b	C	T	17: 33,524,209 (GRCm39)		probably benign	Het
Zpr1	C	T	9: 46,185,961 (GRCm39)	T144I	probably damaging	Het

Other mutations in Or6c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02939:Or6c1	APN	10	129,517,857 (GRCm39)	nonsense	probably null
IGL03112:Or6c1	APN	10	129,517,792 (GRCm39)	missense	probably benign	0.08
R0366:Or6c1	UTSW	10	129,517,840 (GRCm39)	missense	possibly damaging	0.72
R0463:Or6c1	UTSW	10	129,517,708 (GRCm39)	missense	probably benign	0.11
R0579:Or6c1	UTSW	10	129,518,106 (GRCm39)	nonsense	probably null
R1769:Or6c1	UTSW	10	129,518,081 (GRCm39)	missense	probably benign	0.15
R2128:Or6c1	UTSW	10	129,518,401 (GRCm39)	missense	possibly damaging	0.78
R2375:Or6c1	UTSW	10	129,518,032 (GRCm39)	missense	probably benign	0.04
R3888:Or6c1	UTSW	10	129,518,088 (GRCm39)	missense	probably benign	0.43
R3888:Or6c1	UTSW	10	129,518,087 (GRCm39)	missense	possibly damaging	0.94
R5471:Or6c1	UTSW	10	129,517,925 (GRCm39)	missense	probably damaging	1.00
R5588:Or6c1	UTSW	10	129,517,705 (GRCm39)	missense	possibly damaging	0.72
R7305:Or6c1	UTSW	10	129,518,149 (GRCm39)	missense	probably damaging	0.99
R7969:Or6c1	UTSW	10	129,517,699 (GRCm39)	missense	probably benign
R7995:Or6c1	UTSW	10	129,518,509 (GRCm39)	missense	probably damaging	1.00
R9142:Or6c1	UTSW	10	129,518,285 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACTCCCTTGGTCAATGATGCTC -3'
(R):5'- TGCACAATGCTGGTCTTCGC -3'

Sequencing Primer
(F):5'- CAATGATGCTCTATCTGTAGCTGAG -3'
(R):5'- AATCATCTTCCCTGCACTGATG -3'

Posted On

2016-04-27