Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Or8c15'

649009

Institutional Source

Beutler Lab

Gene Symbol

Or8c15

Ensembl Gene

ENSMUSG00000093901

Gene Name

olfactory receptor family 8 subfamily C member 15

Synonyms

GA_x6K02T2PVTD-31889215-31890153, Olfr893, MOR170-11

MMRRC Submission

045986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38120348-38121289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38120496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000148719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093867] [ENSMUST00000211975]

AlphaFold

K7N678

Predicted Effect

probably benign
Transcript: ENSMUST00000093867
AA Change: V49A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091390
Gene: ENSMUSG00000093901
AA Change: V49A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	1.2e-45	PFAM
Pfam:7tm_1	43	292	8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211975
AA Change: V47A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000212815

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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
2310057M21Rik	A	G	7: 130,952,767 (GRCm39)	M238T	probably benign	Het
Acacb	C	T	5: 114,304,108 (GRCm39)	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,902,597 (GRCm39)	V822A	probably damaging	Het
Alpk3	C	T	7: 80,743,693 (GRCm39)	P1170L	probably damaging	Het
Aox3	A	G	1: 58,227,596 (GRCm39)	I1234V	probably damaging	Het
Ascc1	G	A	10: 59,848,381 (GRCm39)	V103M	probably null	Het
Brca2	C	G	5: 150,462,198 (GRCm39)	T654S	probably benign	Het
Cblb	T	C	16: 51,972,899 (GRCm39)	F410S	probably damaging	Het
Cep95	T	A	11: 106,686,974 (GRCm39)	N94K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cpe	T	A	8: 65,047,945 (GRCm39)	S440C	probably damaging	Het
Cspg4	C	T	9: 56,795,381 (GRCm39)	Q1039*	probably null	Het
Cul5	A	T	9: 53,535,069 (GRCm39)	S612T	probably benign	Het
Dapl1	T	C	2: 59,315,112 (GRCm39)		probably null	Het
Deptor	C	T	15: 55,072,244 (GRCm39)	T241M	probably benign	Het
Dnaaf1	A	G	8: 120,309,454 (GRCm39)	T181A	possibly damaging	Het
Dnajc11	G	T	4: 152,053,045 (GRCm39)	Q156H	probably benign	Het
Dst	T	C	1: 34,206,757 (GRCm39)	V975A	possibly damaging	Het
Elf3	T	A	1: 135,184,866 (GRCm39)	S107C	probably damaging	Het
Enpp2	T	A	15: 54,770,324 (GRCm39)	D105V	probably damaging	Het
Fgd6	G	A	10: 93,956,344 (GRCm39)	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,276,850 (GRCm39)	R1157*	probably null	Het
Gabrg2	A	C	11: 41,858,474 (GRCm39)	V218G	probably benign	Het
Gdpgp1	C	T	7: 79,888,953 (GRCm39)	A328V	probably damaging	Het
Glis1	C	G	4: 107,489,571 (GRCm39)	F719L	probably damaging	Het
Glis1	A	T	4: 107,489,572 (GRCm39)	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,146,107 (GRCm39)	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,458,592 (GRCm39)	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,734,055 (GRCm39)		probably benign	Het
Kctd14	T	C	7: 97,106,891 (GRCm39)	S49P	probably damaging	Het
Lamc2	T	A	1: 153,006,521 (GRCm39)	K877*	probably null	Het
Lgr4	T	A	2: 109,836,858 (GRCm39)	S397R	probably damaging	Het
Lrp2	A	T	2: 69,262,541 (GRCm39)	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089 (GRCm39)	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,463,359 (GRCm39)	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,901,808 (GRCm39)	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,363,095 (GRCm39)	A247S	possibly damaging	Het
Or52b4i	G	A	7: 102,191,515 (GRCm39)	R124H	possibly damaging	Het
Pabir1	G	A	19: 24,454,552 (GRCm39)	R57W	probably benign	Het
Pakap	A	G	4: 57,883,026 (GRCm39)	K790E	probably damaging	Het
Pcdh15	G	A	10: 74,430,022 (GRCm39)	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,153,409 (GRCm39)	T43S	probably damaging	Het
Pkn2	G	A	3: 142,516,480 (GRCm39)	R549C	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Polq	T	A	16: 36,881,004 (GRCm39)	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,803,793 (GRCm39)	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,166,258 (GRCm39)	M1L	possibly damaging	Het
Rspry1	G	T	8: 95,349,635 (GRCm39)	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,436,666 (GRCm39)	V249A	probably damaging	Het
Smok2b	A	T	17: 13,455,046 (GRCm39)	H402L	possibly damaging	Het
Supt20	A	T	3: 54,620,620 (GRCm39)	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,528,993 (GRCm39)	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,274,798 (GRCm39)	Y353C	probably damaging	Het
Usp24	A	T	4: 106,287,741 (GRCm39)	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,605,946 (GRCm39)	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,188 (GRCm39)	N205K	possibly damaging	Het
Xkr7	C	A	2: 152,874,135 (GRCm39)	F67L	probably damaging	Het
Zfp473	T	G	7: 44,384,000 (GRCm39)	E111A	probably damaging	Het
Zfp74	T	C	7: 29,631,867 (GRCm39)	K126E	probably benign	Het

Other mutations in Or8c15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Or8c15	APN	9	38,120,534 (GRCm39)	missense	probably damaging	1.00
IGL00914:Or8c15	APN	9	38,121,095 (GRCm39)	splice site	probably null
IGL01563:Or8c15	APN	9	38,120,997 (GRCm39)	missense	probably damaging	1.00
IGL01696:Or8c15	APN	9	38,120,345 (GRCm39)	unclassified	probably benign
IGL02064:Or8c15	APN	9	38,120,874 (GRCm39)	missense	probably damaging	1.00
IGL02605:Or8c15	APN	9	38,120,532 (GRCm39)	missense	probably damaging	0.99
R0415:Or8c15	UTSW	9	38,121,269 (GRCm39)	missense	probably benign
R0463:Or8c15	UTSW	9	38,120,360 (GRCm39)	missense	probably benign	0.00
R0843:Or8c15	UTSW	9	38,120,579 (GRCm39)	missense	possibly damaging	0.81
R1441:Or8c15	UTSW	9	38,120,777 (GRCm39)	missense	probably damaging	1.00
R1939:Or8c15	UTSW	9	38,120,725 (GRCm39)	nonsense	probably null
R2512:Or8c15	UTSW	9	38,120,670 (GRCm39)	missense	probably damaging	1.00
R4890:Or8c15	UTSW	9	38,120,586 (GRCm39)	missense	probably benign	0.00
R5439:Or8c15	UTSW	9	38,121,050 (GRCm39)	missense	probably benign	0.00
R6918:Or8c15	UTSW	9	38,120,948 (GRCm39)	missense	possibly damaging	0.95
R7621:Or8c15	UTSW	9	38,120,447 (GRCm39)	missense	probably benign	0.09
R7715:Or8c15	UTSW	9	38,120,775 (GRCm39)	missense	probably benign	0.30
R8710:Or8c15	UTSW	9	38,121,066 (GRCm39)	missense	possibly damaging	0.60
R8712:Or8c15	UTSW	9	38,121,099 (GRCm39)	missense	probably benign	0.39
R8882:Or8c15	UTSW	9	38,120,461 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCTTCTCCCAACAGATGACAC -3'
(R):5'- CATAACGATCATAGGCCATTGCTG -3'

Sequencing Primer
(F):5'- CCATAATGCACATGGCCATGGAG -3'
(R):5'- GATCATAGGCCATTGCTGTCAGC -3'

Posted On

2020-09-15