Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Or8c13'

688630

Institutional Source

Beutler Lab

Gene Symbol

Or8c13

Ensembl Gene

ENSMUSG00000045528

Gene Name

olfactory receptor family 8 subfamily C member 13

Synonyms

Olfr891, GA_x6K02T2PVTD-31862167-31861217, MOR170-9

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

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

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38091167-38092117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38091780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 113 (Y113C)

Ref Sequence

ENSEMBL: ENSMUSP00000055451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062535]

AlphaFold

E9Q843

Predicted Effect

probably damaging
Transcript: ENSMUST00000062535
AA Change: Y113C

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

SMART Domains

Protein: ENSMUSP00000055451
Gene: ENSMUSG00000045528
AA Change: Y113C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1e-37	PFAM
Pfam:7tm_1	41	289	9.6e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	Het

Other mutations in Or8c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02821:Or8c13	APN	9	38,091,964 (GRCm39)	missense	possibly damaging	0.65
IGL02987:Or8c13	APN	9	38,091,919 (GRCm39)	missense	possibly damaging	0.89
R0032:Or8c13	UTSW	9	38,091,904 (GRCm39)	missense	probably damaging	1.00
R1604:Or8c13	UTSW	9	38,091,645 (GRCm39)	missense	probably benign	0.12
R1678:Or8c13	UTSW	9	38,091,933 (GRCm39)	missense	possibly damaging	0.65
R2230:Or8c13	UTSW	9	38,091,442 (GRCm39)	missense	probably benign	0.00
R4391:Or8c13	UTSW	9	38,091,645 (GRCm39)	missense	probably damaging	0.99
R4470:Or8c13	UTSW	9	38,091,666 (GRCm39)	missense	probably damaging	0.96
R4803:Or8c13	UTSW	9	38,091,546 (GRCm39)	missense	probably damaging	1.00
R4865:Or8c13	UTSW	9	38,091,196 (GRCm39)	missense	possibly damaging	0.53
R5652:Or8c13	UTSW	9	38,092,111 (GRCm39)	missense	probably benign	0.01
R5743:Or8c13	UTSW	9	38,092,014 (GRCm39)	missense	probably benign
R7088:Or8c13	UTSW	9	38,091,748 (GRCm39)	missense	probably damaging	1.00
R7097:Or8c13	UTSW	9	38,091,632 (GRCm39)	nonsense	probably null
R7214:Or8c13	UTSW	9	38,091,318 (GRCm39)	missense	probably damaging	1.00
R7631:Or8c13	UTSW	9	38,092,002 (GRCm39)	missense	probably damaging	1.00
R8315:Or8c13	UTSW	9	38,091,505 (GRCm39)	missense	probably benign	0.25
R8327:Or8c13	UTSW	9	38,091,186 (GRCm39)	missense	possibly damaging	0.72
R8894:Or8c13	UTSW	9	38,091,370 (GRCm39)	missense	probably damaging	1.00
R9325:Or8c13	UTSW	9	38,091,327 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCACAAAAGTTGAGCCTGATC -3'
(R):5'- TCACTGTGGTGGGAAACTTGAG -3'

Sequencing Primer
(F):5'- AGTTGAGCCTGATCATACACCCTG -3'
(R):5'- TGCTGCAATTCAAACCTTCAG -3'

Posted On

2021-11-19