Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Or6c38'

550498

Institutional Source

Beutler Lab

Gene Symbol

Or6c38

Ensembl Gene

ENSMUSG00000050198

Gene Name

olfactory receptor family 6 subfamily C member 38

Synonyms

MOR114-4, Olfr768, GA_x6K02T2PULF-10779441-10778503

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128928903-128929841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128929715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000089619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063031]

AlphaFold

Q8VGC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063031
AA Change: I43V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: I43V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.7e-50	PFAM
Pfam:7tm_1	39	288	5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,257,255 (GRCm39)		probably null	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq2	A	G	5: 100,811,586 (GRCm39)		probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,848,478 (GRCm39)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,925,139 (GRCm39)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,648,112 (GRCm39)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	probably benign	Het

Other mutations in Or6c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Or6c38	APN	10	128,929,265 (GRCm39)	missense	probably benign	0.08
IGL01947:Or6c38	APN	10	128,929,747 (GRCm39)	missense	possibly damaging	0.52
IGL03026:Or6c38	APN	10	128,929,057 (GRCm39)	missense	possibly damaging	0.60
R1353:Or6c38	UTSW	10	128,929,733 (GRCm39)	missense	probably benign	0.14
R1426:Or6c38	UTSW	10	128,929,559 (GRCm39)	missense	probably damaging	1.00
R1766:Or6c38	UTSW	10	128,929,616 (GRCm39)	missense	probably benign	0.24
R2356:Or6c38	UTSW	10	128,929,761 (GRCm39)	missense	probably benign	0.40
R3522:Or6c38	UTSW	10	128,929,711 (GRCm39)	missense	possibly damaging	0.93
R3751:Or6c38	UTSW	10	128,929,175 (GRCm39)	missense	probably damaging	1.00
R3779:Or6c38	UTSW	10	128,929,165 (GRCm39)	missense	possibly damaging	0.94
R4582:Or6c38	UTSW	10	128,929,027 (GRCm39)	missense	possibly damaging	0.93
R4772:Or6c38	UTSW	10	128,929,537 (GRCm39)	missense	possibly damaging	0.92
R4792:Or6c38	UTSW	10	128,929,489 (GRCm39)	missense	probably damaging	1.00
R5749:Or6c38	UTSW	10	128,928,966 (GRCm39)	missense	probably damaging	0.98
R6571:Or6c38	UTSW	10	128,928,990 (GRCm39)	missense	probably damaging	0.98
R6619:Or6c38	UTSW	10	128,929,323 (GRCm39)	missense	possibly damaging	0.95
R7052:Or6c38	UTSW	10	128,929,744 (GRCm39)	missense	probably damaging	0.98
R7409:Or6c38	UTSW	10	128,929,081 (GRCm39)	missense	probably damaging	1.00
R7852:Or6c38	UTSW	10	128,929,385 (GRCm39)	missense	probably benign	0.45
R8332:Or6c38	UTSW	10	128,929,174 (GRCm39)	missense	possibly damaging	0.95
R9183:Or6c38	UTSW	10	128,929,201 (GRCm39)	missense	probably benign	0.06
R9245:Or6c38	UTSW	10	128,929,472 (GRCm39)	missense	probably damaging	1.00
X0024:Or6c38	UTSW	10	128,929,216 (GRCm39)	missense	probably damaging	1.00
X0024:Or6c38	UTSW	10	128,928,984 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTTGAGTGGCACATGCATTG -3'
(R):5'- TCACTTAAGCTAACATTTGTGCCTC -3'

Sequencing Primer
(F):5'- GTAGGTAATGGTATTGTCCCCAGAC -3'
(R):5'- TAATGATCCCTCATGCTGACAATC -3'

Posted On

2019-05-15