Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02601:Or6c75'

300100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c75

Ensembl Gene

ENSMUSG00000044025

Gene Name

olfactory receptor family 6 subfamily C member 75

Synonyms

MOR112-1, GA_x6K02T2PULF-11179777-11180721, Olfr790

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

IGL02601

Quality Score

Status

Chromosome

Chromosomal Location

129336755-129337723 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 129337723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 323 (*323W)

Ref Sequence

ENSEMBL: ENSMUSP00000151759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056002] [ENSMUST00000203966] [ENSMUST00000215067] [ENSMUST00000218901]

AlphaFold

Q8VGJ3

Predicted Effect

probably null
Transcript: ENSMUST00000056002
AA Change: *315W

SMART Domains

Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: *315W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	5.6e-53	PFAM
Pfam:7tm_1	47	296	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000203966
AA Change: *315W

SMART Domains

Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: *315W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	5.6e-53	PFAM
Pfam:7tm_1	47	296	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215067
AA Change: *315W

Predicted Effect

probably null
Transcript: ENSMUST00000218901
AA Change: *323W

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	T	5: 139,293,541 (GRCm39)	V57M	probably damaging	Het
Agap3	A	G	5: 24,688,369 (GRCm39)	K23E	possibly damaging	Het
Anln	A	T	9: 22,249,331 (GRCm39)	I132K	probably damaging	Het
Anxa4	T	C	6: 86,737,683 (GRCm39)	T13A	probably benign	Het
Bdp1	A	T	13: 100,235,022 (GRCm39)	Y191N	possibly damaging	Het
Carm1	G	A	9: 21,498,204 (GRCm39)	V403M	probably damaging	Het
Cbx7	A	G	15: 79,807,671 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,451,757 (GRCm39)	N16K	possibly damaging	Het
Crtc3	A	T	7: 80,242,315 (GRCm39)	D499E	probably damaging	Het
Cul3	A	G	1: 80,249,432 (GRCm39)		probably benign	Het
D430041D05Rik	T	C	2: 104,060,631 (GRCm39)	D1421G	probably damaging	Het
Fgb	T	A	3: 82,952,367 (GRCm39)	E167D	probably benign	Het
Gimap6	T	A	6: 48,679,409 (GRCm39)	Q209L	probably damaging	Het
Gm3604	G	A	13: 62,517,990 (GRCm39)	H123Y	possibly damaging	Het
Gm5884	A	T	6: 128,622,749 (GRCm39)		noncoding transcript	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Obox3	T	C	7: 15,360,848 (GRCm39)	E97G	probably damaging	Het
Obsl1	T	C	1: 75,466,264 (GRCm39)	H1488R	probably benign	Het
Or4e1	A	T	14: 52,700,802 (GRCm39)	Y221*	probably null	Het
Pak5	T	A	2: 135,958,855 (GRCm39)	K78*	probably null	Het
Paqr9	A	G	9: 95,442,877 (GRCm39)	N289S	probably damaging	Het
Pde3b	G	A	7: 114,122,577 (GRCm39)	R715H	probably damaging	Het
Pglyrp2	T	C	17: 32,634,835 (GRCm39)	H509R	probably benign	Het
Pik3ap1	A	C	19: 41,290,881 (GRCm39)	N550K	probably benign	Het
Pon3	A	G	6: 5,221,671 (GRCm39)	Y320H	probably damaging	Het
Ptprt	T	A	2: 161,608,227 (GRCm39)	T690S	probably benign	Het
Ptprz1	T	A	6: 23,000,686 (GRCm39)	D925E	probably benign	Het
Rag1	T	C	2: 101,473,018 (GRCm39)	D708G	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rbmy1b	A	G	Y: 3,774,885 (GRCm39)	I27M	probably benign	Het
Rfx2	G	A	17: 57,092,354 (GRCm39)	H315Y	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sis	T	C	3: 72,820,543 (GRCm39)	N1407S	probably benign	Het
Slco1c1	T	A	6: 141,490,555 (GRCm39)	L261Q	probably damaging	Het
Sox30	T	G	11: 45,875,589 (GRCm39)	L447R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssu72	A	G	4: 155,789,882 (GRCm39)	N15S	possibly damaging	Het
Stat4	C	T	1: 52,137,574 (GRCm39)	S455F	probably damaging	Het
Stk4	T	A	2: 163,928,462 (GRCm39)	L97Q	probably damaging	Het
Sulf1	A	T	1: 12,856,869 (GRCm39)	N40I	probably damaging	Het
Sympk	G	A	7: 18,782,794 (GRCm39)	V877I	probably benign	Het
Taar7b	A	T	10: 23,876,204 (GRCm39)	H123L	probably damaging	Het
Teddm1b	A	G	1: 153,750,362 (GRCm39)	Y57C	probably damaging	Het
Tep1	A	T	14: 51,070,935 (GRCm39)	C2121*	probably null	Het
Tnfsf11	T	A	14: 78,537,385 (GRCm39)	R93*	probably null	Het
Tspan12	A	C	6: 21,835,378 (GRCm39)		probably benign	Het
Tyrp1	A	G	4: 80,759,012 (GRCm39)	E295G	probably null	Het
Vps4a	T	C	8: 107,769,693 (GRCm39)	I334T	probably damaging	Het
Zfhx3	T	C	8: 109,583,462 (GRCm39)	S1110P	probably damaging	Het
Zfp507	A	G	7: 35,491,136 (GRCm39)	S716P	probably damaging	Het

Other mutations in Or6c75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Or6c75	APN	10	129,337,515 (GRCm39)	missense	probably damaging	1.00
IGL01575:Or6c75	APN	10	129,337,436 (GRCm39)	missense	probably benign	0.01
IGL02389:Or6c75	APN	10	129,336,939 (GRCm39)	missense	probably benign
G5030:Or6c75	UTSW	10	129,337,406 (GRCm39)	missense	probably benign	0.00
R0785:Or6c75	UTSW	10	129,336,750 (GRCm39)	critical splice acceptor site	probably null
R0850:Or6c75	UTSW	10	129,337,593 (GRCm39)	missense	probably damaging	0.99
R0899:Or6c75	UTSW	10	129,337,301 (GRCm39)	missense	probably damaging	1.00
R1167:Or6c75	UTSW	10	129,337,019 (GRCm39)	missense	probably benign	0.03
R1515:Or6c75	UTSW	10	129,337,460 (GRCm39)	missense	probably damaging	1.00
R1557:Or6c75	UTSW	10	129,337,491 (GRCm39)	missense	probably damaging	1.00
R1759:Or6c75	UTSW	10	129,336,775 (GRCm39)	missense	probably benign	0.00
R1892:Or6c75	UTSW	10	129,336,902 (GRCm39)	missense	probably benign	0.02
R4296:Or6c75	UTSW	10	129,337,339 (GRCm39)	nonsense	probably null
R4681:Or6c75	UTSW	10	129,337,433 (GRCm39)	missense	probably damaging	1.00
R5046:Or6c75	UTSW	10	129,337,178 (GRCm39)	missense	possibly damaging	0.57
R5309:Or6c75	UTSW	10	129,337,383 (GRCm39)	missense	probably damaging	1.00
R5312:Or6c75	UTSW	10	129,337,383 (GRCm39)	missense	probably damaging	1.00
R5550:Or6c75	UTSW	10	129,337,652 (GRCm39)	missense	probably damaging	1.00
R5788:Or6c75	UTSW	10	129,336,779 (GRCm39)	start codon destroyed	probably null	0.99
R5788:Or6c75	UTSW	10	129,336,763 (GRCm39)	missense	probably benign
R7457:Or6c75	UTSW	10	129,337,575 (GRCm39)	missense	probably damaging	1.00
R7782:Or6c75	UTSW	10	129,337,020 (GRCm39)	missense	probably benign	0.01
R7969:Or6c75	UTSW	10	129,337,716 (GRCm39)	missense	probably benign	0.14
R8512:Or6c75	UTSW	10	129,337,496 (GRCm39)	missense	probably damaging	1.00
R8966:Or6c75	UTSW	10	129,336,951 (GRCm39)	missense	probably damaging	0.98
R9352:Or6c75	UTSW	10	129,337,364 (GRCm39)	missense	probably benign	0.14
R9436:Or6c75	UTSW	10	129,336,969 (GRCm39)	missense	probably damaging	1.00
R9456:Or6c75	UTSW	10	129,337,515 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16