Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Or6c1'

694407

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

068934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129517668-129518606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129518285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 108 (T108A)

Ref Sequence

ENSEMBL: ENSMUSP00000144741 (fasta)

Gene Model

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

AlphaFold

Q8VGJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000074713
AA Change: T108A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: T108A

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: T108A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: T108A

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: T108A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Foxm1	T	A	6: 128,344,298 (GRCm39)	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Kif7	A	T	7: 79,356,585 (GRCm39)	M702K	probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or5w12	C	T	2: 87,502,313 (GRCm39)	V133I	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttk	G	A	9: 83,725,741 (GRCm39)	R221Q	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	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
R4956:Or6c1	UTSW	10	129,517,968 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AGCTGTAGAAGTAACATCAGTGC -3'
(R):5'- TGACCCAAAGCTCCAGGTTG -3'

Sequencing Primer
(F):5'- CATCAGTGCAGGGAAGATGATTAG -3'
(R):5'- CCAAAGCTCCAGGTTGTGATC -3'

Posted On

2022-01-20