Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Or6c38'

367620

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

Accession Numbers

Essential gene?

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

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128928903-128929841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128929537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 102 (V102D)

Ref Sequence

ENSEMBL: ENSMUSP00000089619 (fasta)

Gene Model

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

AlphaFold

Q8VGC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063031
AA Change: V102D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: V102D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	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
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'- CGTCACAGCCAAAGTGATCTATG -3'
(R):5'- ATCACTCTCACACTGGTGGATTC -3'

Sequencing Primer
(F):5'- CAGCCAAAGTGATCTATGACATTGG -3'
(R):5'- GGATTCCCACCTTAAGACTCCCATG -3'

Posted On

2015-12-29