Mutagenetix > Incidental Mutation

Incidental Mutation 'R7457:Or6c75'

578212

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

045531-MU

Accession Numbers

Essential gene?

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

Stock #

R7457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129336755-129337723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129337575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 266 (V266A)

Ref Sequence

ENSEMBL: ENSMUSP00000145450 (fasta)

Gene Model

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

AlphaFold

Q8VGJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056002
AA Change: V266A

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

SMART Domains

Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: V266A

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: V266A

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

SMART Domains

Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: V266A

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: V266A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218901
AA Change: V274A

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

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,374,635 (GRCm39)	H452Q	probably damaging	Het
Adcy8	A	T	15: 64,792,529 (GRCm39)	N142K	possibly damaging	Het
Alkbh8	T	A	9: 3,343,056 (GRCm39)	S57R	probably damaging	Het
Atp4a	A	G	7: 30,420,192 (GRCm39)	T780A	probably benign	Het
Atp9b	A	T	18: 80,960,833 (GRCm39)		probably null	Het
Cdyl2	A	T	8: 117,305,935 (GRCm39)	V442E	probably damaging	Het
Ces2a	C	T	8: 105,464,021 (GRCm39)	R218C	possibly damaging	Het
Cfap57	A	T	4: 118,446,198 (GRCm39)	V688E	probably damaging	Het
Clec11a	T	C	7: 43,955,379 (GRCm39)	T139A	probably benign	Het
Clstn1	A	T	4: 149,719,373 (GRCm39)	T411S	probably benign	Het
Commd5	A	T	15: 76,784,824 (GRCm39)	S74C	probably damaging	Het
Cyp3a59	C	A	5: 146,041,560 (GRCm39)	P368Q	probably damaging	Het
Dennd4b	A	G	3: 90,176,622 (GRCm39)	M309V	probably benign	Het
Dhrs9	T	A	2: 69,231,611 (GRCm39)	V257E	probably benign	Het
Dhx16	T	C	17: 36,201,952 (GRCm39)	V993A	probably damaging	Het
Dok5	A	T	2: 170,712,735 (GRCm39)	Q247L	probably benign	Het
E330034G19Rik	A	T	14: 24,359,582 (GRCm39)	E331V	unknown	Het
Efs	A	G	14: 55,157,451 (GRCm39)	S287P	probably benign	Het
Fbn1	T	C	2: 125,193,667 (GRCm39)	N1384S	possibly damaging	Het
Flt4	A	G	11: 49,521,155 (GRCm39)	E388G	possibly damaging	Het
Fmn2	T	A	1: 174,331,303 (GRCm39)		probably null	Het
Fmo4	T	C	1: 162,621,672 (GRCm39)	Y513C	probably benign	Het
Gbp4	T	C	5: 105,267,419 (GRCm39)	E500G	probably damaging	Het
Gm29106	T	C	1: 118,126,982 (GRCm39)	S225P	probably damaging	Het
Gstt2	G	A	10: 75,668,354 (GRCm39)	R134W	probably damaging	Het
Gucy1b2	T	C	14: 62,630,401 (GRCm39)	T782A	probably benign	Het
Gzf1	G	T	2: 148,532,002 (GRCm39)	R543L	probably damaging	Het
H2-Eb2	G	A	17: 34,553,321 (GRCm39)	G169E	probably damaging	Het
Hdhd3	T	A	4: 62,418,027 (GRCm39)	R50W	probably damaging	Het
Hdlbp	T	C	1: 93,355,944 (GRCm39)	K407E	probably benign	Het
Isl2	A	G	9: 55,452,240 (GRCm39)	T271A	probably benign	Het
Kbtbd7	GTCTCTC	GTC	14: 79,665,364 (GRCm39)		probably null	Het
Kdm4b	T	A	17: 56,703,319 (GRCm39)	N671K	probably damaging	Het
Lats1	T	A	10: 7,586,655 (GRCm39)	L939H	probably damaging	Het
Map3k1	A	T	13: 111,892,789 (GRCm39)	M822K	probably damaging	Het
Mettl18	C	A	1: 163,824,330 (GRCm39)	T217N	probably damaging	Het
Nav3	A	T	10: 109,532,189 (GRCm39)	Y2083*	probably null	Het
Nckap1l	T	C	15: 103,362,233 (GRCm39)		probably benign	Het
Nkx2-3	A	G	19: 43,600,986 (GRCm39)	D16G	probably damaging	Het
Nlrx1	A	G	9: 44,167,807 (GRCm39)	S697P	probably benign	Het
Or14j4	T	C	17: 37,921,456 (GRCm39)	K62R	possibly damaging	Het
Or1e29	G	C	11: 73,667,652 (GRCm39)	S167C	probably benign	Het
Or4k6	A	T	14: 50,475,825 (GRCm39)	N172K	probably damaging	Het
Pappa	A	T	4: 65,107,503 (GRCm39)	D638V	probably damaging	Het
Pot1a	T	C	6: 25,771,621 (GRCm39)	D200G	probably benign	Het
Ptprs	G	T	17: 56,726,502 (GRCm39)	T1366K	probably damaging	Het
Sass6	A	T	3: 116,413,813 (GRCm39)	R505S	probably benign	Het
Slc30a6	T	C	17: 74,714,233 (GRCm39)	I84T	probably benign	Het
Sox10	A	T	15: 79,040,339 (GRCm39)	F400L	probably benign	Het
Spata31d1b	A	T	13: 59,864,723 (GRCm39)	I624F	probably damaging	Het
Stpg4	A	G	17: 87,735,006 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,963,309 (GRCm39)	K340N	probably damaging	Het
Tspan12	T	A	6: 21,772,682 (GRCm39)	H289L	probably benign	Het
Ubr1	T	A	2: 120,748,309 (GRCm39)	T809S	probably benign	Het
Vmn1r43	C	T	6: 89,847,172 (GRCm39)	V105M	probably damaging	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Wnt5a	A	G	14: 28,240,236 (GRCm39)		probably null	Het
Wwp2	T	A	8: 108,244,592 (GRCm39)	S255T	probably benign	Het
Zbtb10	A	G	3: 9,316,538 (GRCm39)	T117A	possibly damaging	Het
Zfp800	C	T	6: 28,244,228 (GRCm39)	V246I	probably benign	Het
Zfp955a	G	T	17: 33,463,025 (GRCm39)	Y35*	probably null	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
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
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'- ACTCACTTTCTCGAGCTCATGG -3'
(R):5'- CAGAGGTCCACTTTCCTTATGATC -3'

Sequencing Primer
(F):5'- GGTAACACTCATGGTCACCTTGAC -3'
(R):5'- GAAGGCTTGCTTCACTTG -3'

Posted On

2019-10-07