Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Or6c214'

423581

Institutional Source

Beutler Lab

Gene Symbol

Or6c214

Ensembl Gene

ENSMUSG00000050478

Gene Name

olfactory receptor family 6 subfamily C member 214

Synonyms

GA_x6K02T2PULF-11434134-11433199, Olfr807, MOR117-1

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129590382-129591317 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 129590403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 305 (C305*)

Ref Sequence

ENSEMBL: ENSMUSP00000150657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059038] [ENSMUST00000213379] [ENSMUST00000217106]

AlphaFold

Q8VGI9

Predicted Effect

probably null
Transcript: ENSMUST00000059038
AA Change: C305*

SMART Domains

Protein: ENSMUSP00000049924
Gene: ENSMUSG00000050478
AA Change: C305*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	3.9e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	302	3.4e-8	PFAM
Pfam:7tm_1	39	296	2.9e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213379
AA Change: C305*

Predicted Effect

probably null
Transcript: ENSMUST00000217106
AA Change: C305*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	T	A	11: 77,409,665 (GRCm39)		probably null	Het
Akap8l	A	G	17: 32,555,368 (GRCm39)	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Api5	G	T	2: 94,256,033 (GRCm39)	A218E	possibly damaging	Het
Bltp2	T	A	11: 78,156,034 (GRCm39)	I182N	possibly damaging	Het
Cfap68	C	A	9: 50,677,049 (GRCm39)	C14F	probably benign	Het
Cftr	A	G	6: 18,319,058 (GRCm39)	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,469,932 (GRCm39)	R865W	probably damaging	Het
Cimip2b	C	T	4: 43,427,687 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,219,781 (GRCm39)	K3223E	probably benign	Het
Cspg4b	T	A	13: 113,455,299 (GRCm39)	H448Q	probably damaging	Het
Cuzd1	A	G	7: 130,917,803 (GRCm39)	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,628,946 (GRCm39)	Y80F	probably damaging	Het
Dock6	A	G	9: 21,740,844 (GRCm39)	S915P	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fat4	A	G	3: 39,064,527 (GRCm39)	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja3	T	G	14: 57,273,289 (GRCm39)	D361A	probably benign	Het
Gpr155	T	C	2: 73,178,592 (GRCm39)	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143 (GRCm39)	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
H6pd	A	G	4: 150,066,241 (GRCm39)	V715A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnip1	T	G	11: 33,592,389 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,098,881 (GRCm39)	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,545,308 (GRCm39)	V44M	probably damaging	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mgat5	T	C	1: 127,387,658 (GRCm39)	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndst1	A	T	18: 60,823,079 (GRCm39)	L829Q	probably damaging	Het
Neto1	A	T	18: 86,416,434 (GRCm39)	H47L	probably benign	Het
Or10ak11	T	C	4: 118,686,863 (GRCm39)	Y258C	probably benign	Het
Or10p22	A	G	10: 128,826,548 (GRCm39)	T256A	probably benign	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or5p61	A	T	7: 107,758,480 (GRCm39)	V200D	probably benign	Het
Pds5b	T	C	5: 150,717,062 (GRCm39)	F1120L	probably benign	Het
Phkb	A	G	8: 86,604,874 (GRCm39)	Y93C	probably damaging	Het
Pilra	C	T	5: 137,834,032 (GRCm39)		probably benign	Het
Pmvk	T	C	3: 89,375,878 (GRCm39)	V146A	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Psg23	A	T	7: 18,345,997 (GRCm39)	W233R	probably benign	Het
Rgl2	A	T	17: 34,153,958 (GRCm39)	I455F	probably damaging	Het
Rhpn1	A	G	15: 75,580,054 (GRCm39)	Q39R	probably benign	Het
Rims4	T	G	2: 163,707,763 (GRCm39)	M100L	probably benign	Het
Sacs	T	A	14: 61,430,963 (GRCm39)		probably benign	Het
Slfn4	T	C	11: 83,080,055 (GRCm39)	F189L	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmem127	T	C	2: 127,098,065 (GRCm39)	Y129H	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Trpc3	A	T	3: 36,692,519 (GRCm39)		probably benign	Het
Tsga10ip	A	T	19: 5,444,363 (GRCm39)	S23T	probably benign	Het
Tut7	G	A	13: 59,939,666 (GRCm39)	T695I	probably damaging	Het
Uspl1	T	C	5: 149,151,556 (GRCm39)	S720P	probably damaging	Het
Zc3h18	A	G	8: 123,113,641 (GRCm39)	D211G	probably damaging	Het
Zswim4	G	A	8: 84,961,708 (GRCm39)	P55L	probably damaging	Het

Other mutations in Or6c214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02586:Or6c214	APN	10	129,590,524 (GRCm39)	missense	possibly damaging	0.87
IGL03031:Or6c214	APN	10	129,591,238 (GRCm39)	missense	possibly damaging	0.94
R0691:Or6c214	UTSW	10	129,591,271 (GRCm39)	missense	probably damaging	1.00
R0848:Or6c214	UTSW	10	129,591,077 (GRCm39)	missense	probably benign	0.00
R0988:Or6c214	UTSW	10	129,590,866 (GRCm39)	missense	probably benign	0.03
R1880:Or6c214	UTSW	10	129,591,290 (GRCm39)	missense	probably benign	0.09
R1894:Or6c214	UTSW	10	129,590,943 (GRCm39)	nonsense	probably null
R1935:Or6c214	UTSW	10	129,590,584 (GRCm39)	missense	probably damaging	1.00
R2513:Or6c214	UTSW	10	129,591,021 (GRCm39)	missense	probably damaging	1.00
R4201:Or6c214	UTSW	10	129,590,497 (GRCm39)	missense	probably damaging	1.00
R4643:Or6c214	UTSW	10	129,590,824 (GRCm39)	missense	probably damaging	1.00
R4651:Or6c214	UTSW	10	129,591,287 (GRCm39)	missense	probably benign
R4652:Or6c214	UTSW	10	129,591,287 (GRCm39)	missense	probably benign
R4797:Or6c214	UTSW	10	129,590,390 (GRCm39)	missense	probably benign	0.06
R5597:Or6c214	UTSW	10	129,590,755 (GRCm39)	missense	probably damaging	1.00
R6310:Or6c214	UTSW	10	129,590,528 (GRCm39)	missense	probably benign	0.04
R6442:Or6c214	UTSW	10	129,591,277 (GRCm39)	missense	probably damaging	1.00
R6443:Or6c214	UTSW	10	129,591,277 (GRCm39)	missense	probably damaging	1.00
R6642:Or6c214	UTSW	10	129,591,232 (GRCm39)	missense	probably damaging	1.00
R7660:Or6c214	UTSW	10	129,590,432 (GRCm39)	nonsense	probably null
R7862:Or6c214	UTSW	10	129,591,224 (GRCm39)	missense	probably benign	0.00
R9052:Or6c214	UTSW	10	129,591,094 (GRCm39)	missense	possibly damaging	0.75
R9091:Or6c214	UTSW	10	129,591,148 (GRCm39)	missense	probably damaging	0.98
R9270:Or6c214	UTSW	10	129,591,148 (GRCm39)	missense	probably damaging	0.98
R9703:Or6c214	UTSW	10	129,591,286 (GRCm39)	missense	possibly damaging	0.57
Z1088:Or6c214	UTSW	10	129,591,208 (GRCm39)	missense	possibly damaging	0.77
Z1176:Or6c214	UTSW	10	129,590,693 (GRCm39)	missense	possibly damaging	0.93
Z1176:Or6c214	UTSW	10	129,590,557 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGATTCCAGCAATGCATAGAAG -3'
(R):5'- ACCTGTTCCTCACACATGATTG -3'

Sequencing Primer
(F):5'- TCCAGCAATGCATAGAAGAAATCATG -3'
(R):5'- GTTCCTCACACATGATTGTTGTC -3'

Posted On

2016-08-04