Mutagenetix > Incidental Mutation

Incidental Mutation 'R8795:Or6c6'

671209

Institutional Source

Beutler Lab

Gene Symbol

Or6c6

Ensembl Gene

ENSMUSG00000095075

Gene Name

olfactory receptor family 6 subfamily C member 6

Synonyms

MOR110-8, GA_x6K02T2PULF-11031172-11032116, Olfr782

MMRRC Submission

068636-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129186434-129187378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129187194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 254 (I254T)

Ref Sequence

ENSEMBL: ENSMUSP00000150951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077024] [ENSMUST00000213970]

AlphaFold

Q7TRI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000077024
AA Change: I254T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076282
Gene: ENSMUSG00000095075
AA Change: I254T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-48	PFAM
Pfam:7tm_1	39	288	8.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213970
AA Change: I254T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,598 (GRCm39)	M128L	probably damaging	Het
Abcc12	A	G	8: 87,258,213 (GRCm39)	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,854,484 (GRCm39)	M118L	probably benign	Het
Adgrl4	A	G	3: 151,216,416 (GRCm39)	N533S	probably benign	Het
Agk	T	G	6: 40,363,854 (GRCm39)	I278R	possibly damaging	Het
Atr	T	A	9: 95,749,584 (GRCm39)	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,612,538 (GRCm39)	V387I	probably damaging	Het
Cand2	T	G	6: 115,763,889 (GRCm39)	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514 (GRCm39)	T139M	probably damaging	Het
Cenpl	A	G	1: 160,910,584 (GRCm39)	E177G	probably benign	Het
Clint1	C	A	11: 45,775,178 (GRCm39)	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,233,812 (GRCm39)	R249G	unknown	Het
Cpne5	C	T	17: 29,423,662 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,859,730 (GRCm39)	D54G	probably benign	Het
Dync2h1	C	T	9: 7,137,087 (GRCm39)	E1468K	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676 (GRCm39)	N429I	possibly damaging	Het
Endov	G	T	11: 119,390,380 (GRCm39)	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,203,089 (GRCm39)	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756 (GRCm39)	V360E	probably damaging	Het
Gcn1	T	C	5: 115,752,454 (GRCm39)	I2153T	probably benign	Het
Gje1	T	C	10: 14,593,870 (GRCm39)	N8S	probably benign	Het
Greb1l	A	G	18: 10,553,739 (GRCm39)	H1580R	probably damaging	Het
Grin1	C	G	2: 25,187,468 (GRCm39)	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ifitm2	A	T	7: 140,535,661 (GRCm39)	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,263,076 (GRCm39)	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Impg2	A	G	16: 56,080,611 (GRCm39)	E805G	probably benign	Het
Itgb6	T	A	2: 60,483,629 (GRCm39)	N260Y	probably damaging	Het
Maneal	G	T	4: 124,750,483 (GRCm39)	Y424*	probably null	Het
Map4k2	T	G	19: 6,401,640 (GRCm39)	C677W	probably damaging	Het
Med6	T	C	12: 81,638,034 (GRCm39)	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245 (GRCm39)	D571E	probably benign	Het
Mroh8	A	G	2: 157,067,493 (GRCm39)	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,753,974 (GRCm39)	Q42L	probably damaging	Het
Myh8	G	T	11: 67,174,203 (GRCm39)		probably benign	Het
Ndufb2	T	C	6: 39,569,586 (GRCm39)	V13A	probably benign	Het
Nf1	T	A	11: 79,316,442 (GRCm39)	L499Q	probably damaging	Het
Opa1	T	C	16: 29,448,450 (GRCm39)	C874R	probably damaging	Het
Or1i2	T	C	10: 78,447,698 (GRCm39)	Y259C	probably damaging	Het
Or4c99	T	G	2: 88,329,855 (GRCm39)	V142G	probably damaging	Het
Or4k37	T	A	2: 111,158,881 (GRCm39)	L39*	probably null	Het
Pld3	T	A	7: 27,235,286 (GRCm39)	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,485,686 (GRCm39)	C114W	possibly damaging	Het
Prl2c1	A	C	13: 28,033,389 (GRCm39)	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 28,033,390 (GRCm39)	Q2H	probably benign	Het
Pzp	C	A	6: 128,471,701 (GRCm39)	K908N	probably damaging	Het
Rab6b	G	A	9: 103,039,825 (GRCm39)	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,663,985 (GRCm39)	T69I	probably benign	Het
Samd9l	A	T	6: 3,374,221 (GRCm39)	Y1013*	probably null	Het
Slc13a4	T	A	6: 35,260,230 (GRCm39)	T217S	probably benign	Het
Slc66a3	A	G	12: 17,043,481 (GRCm39)	W150R	probably damaging	Het
Smarcad1	T	C	6: 65,049,033 (GRCm39)	L253S	probably benign	Het
Snrpa	C	A	7: 26,891,034 (GRCm39)	V146L	possibly damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Srrt	A	T	5: 137,298,238 (GRCm39)	D311E	probably benign	Het
Stk32b	A	T	5: 37,806,483 (GRCm39)	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,224,014 (GRCm39)	T136A	probably benign	Het
Sv2a	G	A	3: 96,094,396 (GRCm39)	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070 (GRCm39)		probably null	Het
Tmem260	A	G	14: 48,689,370 (GRCm39)	H63R	probably damaging	Het
Ugt1a6b	A	G	1: 88,034,794 (GRCm39)	E44G	probably benign	Het
Unc79	A	T	12: 103,074,513 (GRCm39)	I1363F	probably damaging	Het
Usp15	T	A	10: 122,988,953 (GRCm39)	N255Y	probably benign	Het
Usp35	A	G	7: 96,961,167 (GRCm39)	V753A	possibly damaging	Het
Usp35	T	C	7: 96,961,270 (GRCm39)	N719D	probably benign	Het
Vmn2r104	T	A	17: 20,262,988 (GRCm39)	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,064,883 (GRCm39)	M1K	probably null	Het
Zan	C	T	5: 137,396,522 (GRCm39)	E4345K	unknown	Het
Zc3h7a	A	T	16: 10,965,147 (GRCm39)	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,634,134 (GRCm39)	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945 (GRCm39)	D87G	unknown	Het
Zmym4	A	T	4: 126,799,819 (GRCm39)	V653E	probably benign	Het

Other mutations in Or6c6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Or6c6	APN	10	129,186,519 (GRCm39)	missense	probably damaging	1.00
IGL01469:Or6c6	APN	10	129,186,449 (GRCm39)	missense	probably benign
IGL01980:Or6c6	APN	10	129,187,386 (GRCm39)	utr 3 prime	probably benign
IGL03309:Or6c6	APN	10	129,187,178 (GRCm39)	missense	probably benign	0.01
R0449:Or6c6	UTSW	10	129,187,103 (GRCm39)	missense	probably benign	0.00
R1994:Or6c6	UTSW	10	129,186,561 (GRCm39)	missense	probably damaging	1.00
R3121:Or6c6	UTSW	10	129,186,552 (GRCm39)	missense	possibly damaging	0.74
R6421:Or6c6	UTSW	10	129,187,370 (GRCm39)	nonsense	probably null
R7268:Or6c6	UTSW	10	129,187,263 (GRCm39)	missense	possibly damaging	0.60
R7399:Or6c6	UTSW	10	129,186,426 (GRCm39)	start gained	probably benign
R7647:Or6c6	UTSW	10	129,187,326 (GRCm39)	missense	probably benign
R8384:Or6c6	UTSW	10	129,186,695 (GRCm39)	nonsense	probably null
R9224:Or6c6	UTSW	10	129,186,450 (GRCm39)	missense	probably benign
R9375:Or6c6	UTSW	10	129,186,989 (GRCm39)	missense	probably damaging	1.00
R9478:Or6c6	UTSW	10	129,186,960 (GRCm39)	missense	possibly damaging	0.70
X0027:Or6c6	UTSW	10	129,187,202 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTCATGTTCTAGAAATGATGTCC -3'
(R):5'- TTCCTTGAAATTCCACTAGTAACCC -3'

Sequencing Primer
(F):5'- GAAATGATGTCCTTTGTCTTAGCAG -3'
(R):5'- TGAAATTCCACTAGTAACCCATCTG -3'

Posted On

2021-04-30