Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Or6c210'

59425

Institutional Source

Beutler Lab

Gene Symbol

Or6c210

Ensembl Gene

ENSMUSG00000108114

Gene Name

olfactory receptor family 6 subfamily C member 210

Synonyms

GA_x6K02T2PULF-11338429-11339364, MOR114-7, Olfr800

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129495677-129496612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129496269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 198 (V198D)

Ref Sequence

ENSEMBL: ENSMUSP00000151047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104903] [ENSMUST00000217094]

AlphaFold

Q8VFH7

Predicted Effect

probably benign
Transcript: ENSMUST00000104903
AA Change: V198D

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100499
Gene: ENSMUSG00000108114
AA Change: V198D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	7.3e-43	PFAM
Pfam:7tm_1	38	287	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217094
AA Change: V198D

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Or6c210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Or6c210	APN	10	129,495,995 (GRCm39)	missense	probably benign	0.26
IGL01915:Or6c210	APN	10	129,496,519 (GRCm39)	missense	probably benign	0.05
IGL02458:Or6c210	APN	10	129,496,475 (GRCm39)	missense	probably benign	0.38
IGL02721:Or6c210	APN	10	129,495,824 (GRCm39)	missense	probably benign
R0442:Or6c210	UTSW	10	129,495,693 (GRCm39)	missense	probably benign	0.00
R1564:Or6c210	UTSW	10	129,495,884 (GRCm39)	missense	probably benign	0.22
R1580:Or6c210	UTSW	10	129,496,184 (GRCm39)	missense	probably benign	0.10
R1593:Or6c210	UTSW	10	129,496,094 (GRCm39)	nonsense	probably null
R1911:Or6c210	UTSW	10	129,495,981 (GRCm39)	missense	probably benign	0.07
R2001:Or6c210	UTSW	10	129,496,290 (GRCm39)	missense	probably benign	0.02
R2223:Or6c210	UTSW	10	129,495,678 (GRCm39)	start codon destroyed	probably null	1.00
R3876:Or6c210	UTSW	10	129,496,143 (GRCm39)	missense	probably benign	0.39
R3884:Or6c210	UTSW	10	129,496,407 (GRCm39)	missense	probably damaging	1.00
R4366:Or6c210	UTSW	10	129,496,400 (GRCm39)	missense	probably benign	0.02
R4689:Or6c210	UTSW	10	129,496,185 (GRCm39)	missense	probably benign	0.01
R4909:Or6c210	UTSW	10	129,496,589 (GRCm39)	missense	probably benign	0.01
R5638:Or6c210	UTSW	10	129,495,969 (GRCm39)	missense	possibly damaging	0.80
R5835:Or6c210	UTSW	10	129,495,803 (GRCm39)	missense	probably benign	0.39
R5838:Or6c210	UTSW	10	129,495,907 (GRCm39)	missense	probably benign	0.41
R6150:Or6c210	UTSW	10	129,495,803 (GRCm39)	missense	probably benign	0.39
R6248:Or6c210	UTSW	10	129,496,532 (GRCm39)	missense	probably benign	0.39
R8094:Or6c210	UTSW	10	129,495,933 (GRCm39)	missense	probably damaging	0.99
R9013:Or6c210	UTSW	10	129,495,702 (GRCm39)	missense	probably damaging	1.00
R9224:Or6c210	UTSW	10	129,496,007 (GRCm39)	missense	probably damaging	1.00
R9390:Or6c210	UTSW	10	129,495,938 (GRCm39)	missense	probably benign	0.01
R9726:Or6c210	UTSW	10	129,495,920 (GRCm39)	missense	possibly damaging	0.67
R9777:Or6c210	UTSW	10	129,495,705 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCGATATGTAGCCATCTGCAAACCC -3'
(R):5'- GCTGCCATAGGTGATGGAAACCAC -3'

Sequencing Primer
(F):5'- GCAGGATCTGTACAAGACTTATCCTC -3'
(R):5'- TGGAAACCACAATCATGTGGG -3'

Posted On

2013-07-11