Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Or6c35'

516437

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

044601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129168752-129169687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129169580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 277 (S277P)

Ref Sequence

ENSEMBL: ENSMUSP00000145356 (fasta)

Gene Model

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

AlphaFold

Q8VFZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075613
AA Change: S277P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075041
Gene: ENSMUSG00000095138
AA Change: S277P

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

possibly damaging
Transcript: ENSMUST00000204108
AA Change: S277P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145356
Gene: ENSMUSG00000095138
AA Change: S277P

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

0.3434

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,177,747 (GRCm39)	V305A	possibly damaging	Het
Adgrl4	A	G	3: 151,198,012 (GRCm39)	T91A	probably benign	Het
Ano6	A	G	15: 95,865,595 (GRCm39)	I860V	probably benign	Het
B3galnt1	A	G	3: 69,482,866 (GRCm39)	S132P	probably damaging	Het
Bltp1	T	C	3: 37,062,592 (GRCm39)	I3368T	probably damaging	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
Cacna1g	A	T	11: 94,330,548 (GRCm39)	V989D	probably damaging	Het
Celsr3	A	G	9: 108,712,989 (GRCm39)	D1807G	probably benign	Het
Chd6	A	G	2: 160,854,987 (GRCm39)	M807T	probably damaging	Het
Cpxm2	T	C	7: 131,672,589 (GRCm39)	D320G	probably damaging	Het
Cryzl1	A	C	16: 91,489,413 (GRCm39)		probably null	Het
Dcbld2	A	T	16: 58,253,736 (GRCm39)	K158*	probably null	Het
Depdc5	A	G	5: 33,069,575 (GRCm39)	N437S	probably benign	Het
Dock7	G	A	4: 98,855,464 (GRCm39)	S1496L	probably benign	Het
Eea1	T	G	10: 95,864,274 (GRCm39)	I931R	probably benign	Het
Eif2ak4	C	A	2: 118,266,722 (GRCm39)	L714I	probably damaging	Het
Enpep	A	G	3: 129,125,509 (GRCm39)		probably null	Het
Fam83b	T	A	9: 76,409,413 (GRCm39)	K238*	probably null	Het
Fam83f	A	G	15: 80,576,312 (GRCm39)	Y321C	possibly damaging	Het
Fanci	A	G	7: 79,067,687 (GRCm39)	I42V	probably benign	Het
Flg2	A	T	3: 93,121,728 (GRCm39)	R1299S	unknown	Het
Gak	G	T	5: 108,771,202 (GRCm39)	C102*	probably null	Het
Gcnt7	A	G	2: 172,295,993 (GRCm39)	L277P	probably damaging	Het
Gucy2d	A	G	7: 98,099,168 (GRCm39)	E329G	probably benign	Het
Hacd1	T	C	2: 14,040,755 (GRCm39)	I167V	probably damaging	Het
Hdlbp	T	A	1: 93,345,389 (GRCm39)	D662V	possibly damaging	Het
Hspa4	A	T	11: 53,155,883 (GRCm39)	V674E	probably benign	Het
Hunk	A	G	16: 90,290,320 (GRCm39)	Q442R	possibly damaging	Het
Lce1j	A	T	3: 92,696,729 (GRCm39)	C16*	probably null	Het
Lrat	A	T	3: 82,810,799 (GRCm39)	M74K	probably damaging	Het
Lrig2	G	A	3: 104,374,509 (GRCm39)	R191C	probably damaging	Het
Lrrc37a	A	C	11: 103,351,666 (GRCm39)	F2558L	unknown	Het
Mctp1	T	A	13: 76,879,930 (GRCm39)		probably null	Het
Mecom	T	A	3: 30,194,535 (GRCm39)		probably benign	Het
Mgst1	A	G	6: 138,118,585 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,970,534 (GRCm39)	E3A	probably benign	Het
Myo1d	T	C	11: 80,448,300 (GRCm39)	I942V	probably benign	Het
Neu2	A	G	1: 87,524,600 (GRCm39)	Y195C	probably damaging	Het
Nipa1	A	T	7: 55,669,252 (GRCm39)	V22E	probably benign	Het
Or4n4b	A	T	14: 50,535,924 (GRCm39)	L281I	probably benign	Het
Or8k25	T	A	2: 86,244,381 (GRCm39)	N5I	probably damaging	Het
Pik3r4	A	G	9: 105,562,389 (GRCm39)	T1223A	possibly damaging	Het
Ppl	T	C	16: 4,910,305 (GRCm39)	D811G	probably damaging	Het
Prep	T	A	10: 44,991,203 (GRCm39)	Y290N	probably damaging	Het
Ptk6	A	T	2: 180,840,895 (GRCm39)	H215Q	probably benign	Het
Rad50	A	G	11: 53,582,971 (GRCm39)	I474T	possibly damaging	Het
Rnf213	T	A	11: 119,343,513 (GRCm39)	V3626E	possibly damaging	Het
Scn4a	C	T	11: 106,236,502 (GRCm39)	V253M	probably damaging	Het
Snta1	T	A	2: 154,219,069 (GRCm39)	D422V	probably damaging	Het
Spata31h1	G	T	10: 82,131,150 (GRCm39)	T620K	probably benign	Het
Stk38	A	G	17: 29,203,086 (GRCm39)	L160P	probably benign	Het
Tapbp	T	C	17: 34,145,072 (GRCm39)	F323S	probably damaging	Het
Uggt1	C	T	1: 36,212,531 (GRCm39)	R937Q	probably benign	Het
Vash2	G	A	1: 190,710,484 (GRCm39)	P57L	probably damaging	Het
Vmn1r4	G	A	6: 56,933,852 (GRCm39)	V119I	probably benign	Het
Vmn2r74	T	C	7: 85,610,599 (GRCm39)	D31G	probably benign	Het
Zfp114	T	C	7: 23,877,206 (GRCm39)	V16A	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
R6647:Or6c35	UTSW	10	129,169,033 (GRCm39)	nonsense	probably null
R8099:Or6c35	UTSW	10	129,168,996 (GRCm39)	missense	probably damaging	0.99
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'- ATCAAGACCATTCTGAGATTTCCC -3'
(R):5'- GTCCATAGTGTGCAAGTTTAAGAAG -3'

Sequencing Primer
(F):5'- GAGATTTCCCTCTGCCAAGCAAAG -3'
(R):5'- GAAAGCTTGCTTTACTTGC -3'

Posted On

2018-05-21