Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Or6c38'

246946

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

040338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128928903-128929841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128929761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 27 (I27M)

Ref Sequence

ENSEMBL: ENSMUSP00000089619 (fasta)

Gene Model

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

AlphaFold

Q8VGC4

Predicted Effect

probably benign
Transcript: ENSMUST00000063031
AA Change: I27M

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: I27M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216681

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cdk10	T	C	8: 123,955,908 (GRCm39)	V199A	probably damaging	Het
Ces2h	G	A	8: 105,742,570 (GRCm39)	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,699,155 (GRCm39)	S276A	probably benign	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Prx	C	T	7: 27,207,284 (GRCm39)		probably benign	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het
Zfp809	C	A	9: 22,154,336 (GRCm39)	T351K	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
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
R7096:Or6c38	UTSW	10	128,929,715 (GRCm39)	missense	probably damaging	0.97
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'- GAGTGGCACATGCATTGTAGG -3'
(R):5'- AAGCTAACATTTGTGCCTCTCC -3'

Sequencing Primer
(F):5'- AATGGTATTGTCCCCAGACG -3'
(R):5'- CCTAATGATCCCTCATGCTGACAATC -3'

Posted On

2014-10-30