Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Or6c75'

168234

Institutional Source

Beutler Lab

Gene Symbol

Or6c75

Ensembl Gene

ENSMUSG00000044025

Gene Name

olfactory receptor family 6 subfamily C member 75

Synonyms

MOR112-1, GA_x6K02T2PULF-11179777-11180721, Olfr790

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129336755-129337723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129337460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

Ref Sequence

ENSEMBL: ENSMUSP00000151759 (fasta)

Gene Model

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

AlphaFold

Q8VGJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056002
AA Change: S228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: S228P

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 damaging
Transcript: ENSMUST00000203966
AA Change: S228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: S228P

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 damaging
Transcript: ENSMUST00000215067
AA Change: S228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218901
AA Change: S236P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,336,583 (GRCm39)	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,027,498 (GRCm39)	V23L	probably benign	Het
Atmin	T	A	8: 117,681,579 (GRCm39)	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,152,792 (GRCm39)	V225I	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC024139	A	G	15: 76,008,526 (GRCm39)	V350A	possibly damaging	Het
Birc6	G	T	17: 74,835,631 (GRCm39)	E29*	probably null	Het
Bnc2	T	C	4: 84,332,563 (GRCm39)	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,147,515 (GRCm39)		probably null	Het
Cd320	G	T	17: 34,066,613 (GRCm39)	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,510,133 (GRCm39)	S542P	probably damaging	Het
Crocc	T	C	4: 140,747,048 (GRCm39)	T1587A	probably benign	Het
Defb41	T	C	1: 18,330,817 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,384 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,355 (GRCm39)	N2836S	probably benign	Het
Dpp8	G	A	9: 64,986,030 (GRCm39)	S840N	probably benign	Het
Dsc2	A	G	18: 20,167,758 (GRCm39)	F111L	probably damaging	Het
Dsc2	T	A	18: 20,178,622 (GRCm39)	I261F	probably benign	Het
Ece1	T	C	4: 137,678,819 (GRCm39)	V509A	probably benign	Het
Ecm2	T	C	13: 49,671,808 (GRCm39)	M103T	possibly damaging	Het
Emsy	T	C	7: 98,240,063 (GRCm39)	H1064R	probably damaging	Het
Engase	T	C	11: 118,377,966 (GRCm39)	V252A	possibly damaging	Het
F13b	A	G	1: 139,438,703 (GRCm39)	Y369C	probably damaging	Het
Flii	T	C	11: 60,612,432 (GRCm39)		probably null	Het
Fzd10	T	A	5: 128,679,623 (GRCm39)	F448I	probably damaging	Het
Gpr35	T	G	1: 92,910,770 (GRCm39)	F161V	probably damaging	Het
Gprin2	T	C	14: 33,917,230 (GRCm39)	D180G	possibly damaging	Het
Grik3	A	G	4: 125,564,521 (GRCm39)	N501S	probably benign	Het
Hells	A	G	19: 38,956,209 (GRCm39)	K802E	probably damaging	Het
Il1r1	T	A	1: 40,332,509 (GRCm39)	C96*	probably null	Het
Kcnk16	T	A	14: 20,315,345 (GRCm39)	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,472,905 (GRCm39)	S652P	probably benign	Het
Lamc3	A	G	2: 31,830,763 (GRCm39)	D1500G	probably damaging	Het
Macf1	A	G	4: 123,272,273 (GRCm39)	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,733,644 (GRCm39)	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232 (GRCm39)	T323A	probably benign	Het
N4bp2	A	G	5: 65,947,841 (GRCm39)	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,124,781 (GRCm39)	H190Q	probably benign	Het
Or10a3m	T	C	7: 108,313,148 (GRCm39)	V184A	possibly damaging	Het
Or5b118	T	C	19: 13,449,044 (GRCm39)	S237P	probably damaging	Het
Osgin2	C	T	4: 15,998,380 (GRCm39)	G414D	probably benign	Het
Pkd1	G	A	17: 24,813,827 (GRCm39)	R4097H	probably benign	Het
Pnkd	T	A	1: 74,388,968 (GRCm39)	L213Q	probably null	Het
Ppfibp1	A	G	6: 146,928,930 (GRCm39)	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,646,257 (GRCm39)	D148G	probably damaging	Het
Ptprt	A	T	2: 162,079,954 (GRCm39)	S282T	probably damaging	Het
Sgsm3	T	C	15: 80,894,457 (GRCm39)	V536A	probably benign	Het
Slc22a23	T	A	13: 34,387,947 (GRCm39)	Q383L	probably benign	Het
Snx29	T	C	16: 11,217,701 (GRCm39)		probably null	Het
Tmem229b-ps	T	A	10: 53,351,542 (GRCm39)		noncoding transcript	Het
Tmod4	A	T	3: 95,035,990 (GRCm39)	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,843,108 (GRCm39)	M375T	probably benign	Het
Txndc11	A	G	16: 10,892,926 (GRCm39)	S935P	probably damaging	Het
Umod	T	C	7: 119,064,720 (GRCm39)	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,917,643 (GRCm39)	Y290H	probably benign	Het
Vps26b	A	G	9: 26,924,041 (GRCm39)	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,104,658 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,252,647 (GRCm39)	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,039,039 (GRCm39)		probably benign	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
IGL02601:Or6c75	APN	10	129,337,723 (GRCm39)	makesense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGCCTCCAACATAATTGACCAC -3'
(R):5'- AAGGCTTGCTTCACTTGCTGGTTC -3'

Sequencing Primer
(F):5'- AATTGACCACTTTATCTGTGACTC -3'
(R):5'- CTGGTTCCTCAGTGTATAGATGAAG -3'

Posted On

2014-04-13