Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Or6c35'

630410

Institutional Source

Beutler Lab

Gene Symbol

Or6c35

Ensembl Gene

ENSMUSG00000095138

Gene Name

olfactory receptor family 6 subfamily C member 35

Synonyms

MOR114-6, Olfr781, GA_x6K02T2PULF-11013616-11014551

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129168752-129169687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129168996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 82 (I82K)

Ref Sequence

ENSEMBL: ENSMUSP00000145356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075613] [ENSMUST00000204108]

AlphaFold

Q8VFZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000075613
AA Change: I82K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075041
Gene: ENSMUSG00000095138
AA Change: I82K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.6e-44	PFAM
Pfam:7tm_1	38	287	5e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204108
AA Change: I82K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145356
Gene: ENSMUSG00000095138
AA Change: I82K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.6e-44	PFAM
Pfam:7tm_1	38	287	5e-24	PFAM

Meta Mutation Damage Score

0.5990

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Mkrn1	T	C	6: 39,387,031 (GRCm39)	D102G	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Srsf1	T	C	11: 87,940,082 (GRCm39)	I198T	probably benign	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp15	T	C	10: 122,982,826 (GRCm39)	Y263C	possibly damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly damaging	Het

Other mutations in Or6c35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Or6c35	APN	10	129,168,804 (GRCm39)	missense	probably benign
IGL01636:Or6c35	APN	10	129,168,752 (GRCm39)	start codon destroyed	probably damaging	0.96
IGL01744:Or6c35	APN	10	129,169,326 (GRCm39)	missense	probably benign	0.05
IGL01867:Or6c35	APN	10	129,169,232 (GRCm39)	missense	probably damaging	1.00
IGL02002:Or6c35	APN	10	129,168,996 (GRCm39)	missense	probably damaging	0.99
IGL02423:Or6c35	APN	10	129,169,397 (GRCm39)	missense	probably benign	0.00
R2036:Or6c35	UTSW	10	129,169,541 (GRCm39)	missense	probably benign	0.43
R2099:Or6c35	UTSW	10	129,169,152 (GRCm39)	missense	probably damaging	0.96
R2273:Or6c35	UTSW	10	129,169,326 (GRCm39)	missense	probably benign	0.05
R2274:Or6c35	UTSW	10	129,169,326 (GRCm39)	missense	probably benign	0.05
R3841:Or6c35	UTSW	10	129,169,202 (GRCm39)	missense	probably benign	0.00
R4585:Or6c35	UTSW	10	129,169,142 (GRCm39)	missense	probably benign	0.08
R4586:Or6c35	UTSW	10	129,169,142 (GRCm39)	missense	probably benign	0.08
R5522:Or6c35	UTSW	10	129,168,798 (GRCm39)	missense	probably damaging	0.98
R6052:Or6c35	UTSW	10	129,169,071 (GRCm39)	missense	possibly damaging	0.91
R6414:Or6c35	UTSW	10	129,169,578 (GRCm39)	missense	probably benign	0.23
R6468:Or6c35	UTSW	10	129,169,580 (GRCm39)	missense	possibly damaging	0.91
R6647:Or6c35	UTSW	10	129,169,033 (GRCm39)	nonsense	probably null
R9151:Or6c35	UTSW	10	129,169,623 (GRCm39)	missense	probably damaging	1.00
R9617:Or6c35	UTSW	10	129,168,794 (GRCm39)	missense	probably damaging	0.98
R9649:Or6c35	UTSW	10	129,169,368 (GRCm39)	missense	possibly damaging	0.68
T0975:Or6c35	UTSW	10	129,169,314 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TCACAGATGATATTCGGCTGC -3'
(R):5'- TGCTACCCAACAGGAGAAGATG -3'

Sequencing Primer
(F):5'- CAGATGATATTCGGCTGCAAATTCTG -3'
(R):5'- GAAGATGAAGTTCTTGCAGACTCTG -3'

Posted On

2020-06-30