Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Or6c38'

574936

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

045490-MU

Accession Numbers

Essential gene?

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

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128928903-128929841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128929081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 254 (I254T)

Ref Sequence

ENSEMBL: ENSMUSP00000089619 (fasta)

Gene Model

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

AlphaFold

Q8VGC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063031
AA Change: I254T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: I254T

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: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,912,862 (GRCm39)	A1329V	probably benign	Het
Aida	A	G	1: 183,099,809 (GRCm39)	T215A	probably benign	Het
Alpk2	A	G	18: 65,440,023 (GRCm39)	S457P	probably benign	Het
Ap4b1	G	A	3: 103,719,474 (GRCm39)	V63I	probably damaging	Het
Apaf1	A	G	10: 90,903,108 (GRCm39)	V182A	probably damaging	Het
B4galnt4	G	A	7: 140,646,916 (GRCm39)		probably null	Het
Bltp2	G	T	11: 78,159,583 (GRCm39)	R544L	probably damaging	Het
Cacna1a	T	G	8: 85,260,031 (GRCm39)	D331E	probably damaging	Het
Carmil2	A	G	8: 106,419,423 (GRCm39)		probably null	Het
Cdkn1b	A	T	6: 134,898,280 (GRCm39)	Q133L	probably benign	Het
Cep192	G	C	18: 67,967,874 (GRCm39)	S786T	possibly damaging	Het
Cfap418	T	A	4: 10,881,834 (GRCm39)	C94S	probably benign	Het
Cfap97	G	A	8: 46,645,733 (GRCm39)	R537H	probably benign	Het
Clpx	C	G	9: 65,231,529 (GRCm39)	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,523,842 (GRCm39)	T240I	probably damaging	Het
Ddx60	C	A	8: 62,411,612 (GRCm39)	T488K	probably benign	Het
Dennd4b	A	G	3: 90,181,259 (GRCm39)	H805R	probably benign	Het
Dnmbp	T	C	19: 43,878,996 (GRCm39)	D25G	unknown	Het
Dysf	A	C	6: 84,126,664 (GRCm39)	D1293A	probably benign	Het
Efl1	T	C	7: 82,347,121 (GRCm39)	L549P	probably damaging	Het
Eif5	T	C	12: 111,506,697 (GRCm39)		probably benign	Het
Eva1c	A	G	16: 90,666,544 (GRCm39)	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,767,606 (GRCm39)	V814G	possibly damaging	Het
Gfap	C	T	11: 102,785,358 (GRCm39)	R206Q	probably benign	Het
Gjb6	A	T	14: 57,361,610 (GRCm39)	L217*	probably null	Het
Gpatch11	T	A	17: 79,146,595 (GRCm39)	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,238,727 (GRCm39)	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,705,195 (GRCm39)	S173P	possibly damaging	Het
Hars1	C	G	18: 36,903,166 (GRCm39)	R388P	probably damaging	Het
Ighm	C	T	12: 113,385,852 (GRCm39)	R129H		Het
Igsf9	A	G	1: 172,322,841 (GRCm39)	I602V	probably benign	Het
Inpp4b	T	G	8: 82,679,314 (GRCm39)		probably null	Het
Itch	C	A	2: 155,041,302 (GRCm39)	T450K	probably damaging	Het
Kcnq1	T	C	7: 142,663,152 (GRCm39)	F20L	unknown	Het
Kmt2d	G	T	15: 98,753,235 (GRCm39)	A153E	probably damaging	Het
Macf1	T	A	4: 123,398,263 (GRCm39)	N750I	probably damaging	Het
Marveld2	T	A	13: 100,747,984 (GRCm39)	H365L	probably damaging	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mettl8	A	T	2: 70,803,687 (GRCm39)	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,227,135 (GRCm39)	S157A	possibly damaging	Het
Mrps35	A	G	6: 146,957,481 (GRCm39)	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,526,180 (GRCm39)	Y551N	probably damaging	Het
Myo18b	T	C	5: 113,021,971 (GRCm39)	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830 (GRCm39)	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,013,634 (GRCm39)	T539A	probably benign	Het
Oca2	T	A	7: 56,064,145 (GRCm39)	D713E	probably benign	Het
Omt2b	A	C	9: 78,235,894 (GRCm39)	Y73S	probably benign	Het
Or10aa1	T	A	1: 173,870,099 (GRCm39)	H194Q	probably benign	Het
Or13a27	C	T	7: 139,925,318 (GRCm39)	V195I	probably benign	Het
Or6c69	A	T	10: 129,748,120 (GRCm39)	V9D	possibly damaging	Het
Pde11a	G	T	2: 75,836,328 (GRCm39)	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phrf1	C	A	7: 140,839,205 (GRCm39)	T800K	unknown	Het
Polr1f	T	G	12: 33,486,988 (GRCm39)	C150W	possibly damaging	Het
Pramel4	T	C	4: 143,795,061 (GRCm39)	S486P	probably benign	Het
Proc	T	C	18: 32,260,513 (GRCm39)	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,823,411 (GRCm39)	I494N	possibly damaging	Het
Samm50	A	G	15: 84,081,231 (GRCm39)	D53G	probably benign	Het
Satb1	T	C	17: 52,116,217 (GRCm39)	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,624,918 (GRCm39)	S658P	probably damaging	Het
Sfta2	T	A	17: 35,925,410 (GRCm39)	I29K	unknown	Het
Slc15a4	A	T	5: 127,681,742 (GRCm39)	S292T	probably benign	Het
Slc37a1	C	T	17: 31,559,237 (GRCm39)	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,663,858 (GRCm39)	P294Q	probably damaging	Het
Slc52a3	T	C	2: 151,846,086 (GRCm39)	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,244,163 (GRCm39)	I468V	probably benign	Het
Spag17	T	C	3: 99,934,547 (GRCm39)	S610P	possibly damaging	Het
Spag17	A	T	3: 99,941,475 (GRCm39)	D738V	probably benign	Het
Ssbp4	T	C	8: 71,050,617 (GRCm39)	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,257,354 (GRCm39)	T406A	possibly damaging	Het
Tep1	A	T	14: 51,104,312 (GRCm39)	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,909,767 (GRCm39)	C343*	probably null	Het
Tmed10	A	T	12: 85,391,065 (GRCm39)	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,025,524 (GRCm39)	V38E	probably damaging	Het
Ttc6	T	C	12: 57,743,772 (GRCm39)	M1258T	probably damaging	Het
Ttn	T	C	2: 76,589,320 (GRCm39)	D21281G	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,956,449 (GRCm39)	E58*	probably null	Het
Vps13d	C	T	4: 144,867,824 (GRCm39)	E2009K		Het
Vps33b	T	C	7: 79,935,017 (GRCm39)	I320T	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,553,786 (GRCm39)	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,778,603 (GRCm39)		probably null	Het
Zfp219	A	T	14: 52,244,570 (GRCm39)	Y536*	probably null	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
R7096:Or6c38	UTSW	10	128,929,715 (GRCm39)	missense	probably damaging	0.97
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'- GTCCCTTAGCTCTTTATGATAGAGGC -3'
(R):5'- TCCTGAAGATCAGCTGCTCC -3'

Sequencing Primer
(F):5'- GAGGCAATCCTTTTGATCATGTC -3'
(R):5'- CACAGAGTTCATAGAGCGGTTTG -3'

Posted On

2019-10-07