Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Or6c6c'

289060

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c6c

Ensembl Gene

ENSMUSG00000095401

Gene Name

olfactory receptor family 6 subfamily C member 6C

Synonyms

GA_x6K02T2PULF-11383575-11384519, MOR110-7, Olfr804

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

129540749-129541693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129541358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 204 (T204S)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077312] [ENSMUST00000213331]

AlphaFold

Q7TRH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077312
AA Change: T204S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: T204S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6e-48	PFAM
Pfam:7tm_1	39	288	3.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213331
AA Change: T204S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	C	T	15: 96,270,066 (GRCm39)	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,163,346 (GRCm39)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,467,290 (GRCm39)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,352,978 (GRCm39)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,213,978 (GRCm39)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,251,261 (GRCm39)	I383T	probably benign	Het
Ccnk	A	G	12: 108,161,989 (GRCm39)	E298G	unknown	Het
Ccnt1	T	C	15: 98,444,664 (GRCm39)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,580,699 (GRCm39)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,610,667 (GRCm39)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah8	A	T	17: 30,966,231 (GRCm39)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,010,035 (GRCm39)	T25A	probably damaging	Het
Ears2	G	A	7: 121,638,987 (GRCm39)	A479V	probably benign	Het
Erc1	T	A	6: 119,571,934 (GRCm39)	I981F	possibly damaging	Het
Gm8730	A	G	8: 103,591,775 (GRCm39)		noncoding transcript	Het
Gm9962	C	T	7: 57,037,042 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,600,637 (GRCm39)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,120,159 (GRCm39)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,031,969 (GRCm39)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,741,946 (GRCm39)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,060,802 (GRCm39)	H100R	probably benign	Het
Lypd8l	T	C	11: 58,503,656 (GRCm39)	S17G	possibly damaging	Het
Magi2	T	A	5: 20,671,201 (GRCm39)	I678N	probably damaging	Het
Megf11	G	A	9: 64,451,902 (GRCm39)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,356,281 (GRCm39)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,164,354 (GRCm39)	S404A	probably benign	Het
Mylip	A	G	13: 45,544,752 (GRCm39)	R59G	probably damaging	Het
Mylk3	A	T	8: 86,078,601 (GRCm39)	I501N	probably damaging	Het
Myo19	A	G	11: 84,778,871 (GRCm39)		probably benign	Het
Nat2	A	G	8: 67,954,370 (GRCm39)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,455,752 (GRCm39)	A2554V	probably benign	Het
Niban3	A	T	8: 72,056,443 (GRCm39)	N381I	possibly damaging	Het
Ninl	A	T	2: 150,786,525 (GRCm39)	C153*	probably null	Het
Nlrp5	C	T	7: 23,103,577 (GRCm39)	R15C	probably benign	Het
Nphp4	A	T	4: 152,639,926 (GRCm39)		probably benign	Het
Obscn	C	A	11: 59,026,651 (GRCm39)	R184L	probably benign	Het
Or6c202	T	A	10: 128,996,302 (GRCm39)	I184F	probably benign	Het
Or6c8	A	T	10: 128,915,330 (GRCm39)	C167*	probably null	Het
Phip	A	T	9: 82,814,936 (GRCm39)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm39)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,878,025 (GRCm39)	Y213*	probably null	Het
Scn2a	C	T	2: 65,518,721 (GRCm39)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,835,314 (GRCm39)	T120S	probably benign	Het
Sp7	T	A	15: 102,267,657 (GRCm39)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,432,750 (GRCm39)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,695,257 (GRCm39)	S67P	probably damaging	Het
Tjp1	G	A	7: 64,962,382 (GRCm39)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,672,529 (GRCm39)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,442,109 (GRCm39)	*103R	probably null	Het
Uggt1	A	T	1: 36,203,600 (GRCm39)	*47R	probably null	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,795,175 (GRCm39)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,757,849 (GRCm39)	P594Q	probably damaging	Het

Other mutations in Or6c6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or6c6c	APN	10	129,541,492 (GRCm39)	missense	probably benign	0.01
IGL02041:Or6c6c	APN	10	129,541,104 (GRCm39)	missense	probably damaging	1.00
IGL02245:Or6c6c	APN	10	129,541,608 (GRCm39)	missense	probably damaging	1.00
IGL02433:Or6c6c	APN	10	129,541,445 (GRCm39)	missense	probably benign	0.01
authen	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R0111:Or6c6c	UTSW	10	129,541,146 (GRCm39)	missense	probably damaging	1.00
R0309:Or6c6c	UTSW	10	129,541,008 (GRCm39)	missense	probably benign	0.38
R0326:Or6c6c	UTSW	10	129,541,638 (GRCm39)	missense	possibly damaging	0.69
R0374:Or6c6c	UTSW	10	129,541,516 (GRCm39)	missense	probably benign	0.00
R1573:Or6c6c	UTSW	10	129,541,487 (GRCm39)	missense	probably damaging	1.00
R1663:Or6c6c	UTSW	10	129,541,160 (GRCm39)	missense	probably benign	0.44
R1778:Or6c6c	UTSW	10	129,541,574 (GRCm39)	missense	probably benign	0.01
R1789:Or6c6c	UTSW	10	129,541,476 (GRCm39)	missense	possibly damaging	0.82
R1906:Or6c6c	UTSW	10	129,541,365 (GRCm39)	missense	probably benign	0.00
R2108:Or6c6c	UTSW	10	129,541,490 (GRCm39)	missense	probably benign
R2211:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R2432:Or6c6c	UTSW	10	129,540,794 (GRCm39)	missense	possibly damaging	0.91
R2902:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R4114:Or6c6c	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R5149:Or6c6c	UTSW	10	129,541,377 (GRCm39)	missense	probably benign	0.00
R5153:Or6c6c	UTSW	10	129,541,026 (GRCm39)	missense	probably benign	0.05
R5846:Or6c6c	UTSW	10	129,540,756 (GRCm39)	missense	probably damaging	0.99
R6553:Or6c6c	UTSW	10	129,540,932 (GRCm39)	missense	probably benign	0.07
R7676:Or6c6c	UTSW	10	129,541,155 (GRCm39)	missense	possibly damaging	0.63
R8161:Or6c6c	UTSW	10	129,540,753 (GRCm39)	missense	possibly damaging	0.94
R9266:Or6c6c	UTSW	10	129,541,547 (GRCm39)	missense	probably benign	0.17
R9318:Or6c6c	UTSW	10	129,541,283 (GRCm39)	missense	probably benign	0.00
R9334:Or6c6c	UTSW	10	129,541,683 (GRCm39)	missense	probably benign	0.00
R9746:Or6c6c	UTSW	10	129,541,208 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16