Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Or6c214'

63968

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

038876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129590382-129591317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129591271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 16 (T16I)

Ref Sequence

ENSEMBL: ENSMUSP00000150657 (fasta)

Gene Model

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

AlphaFold

Q8VGI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000059038
AA Change: T16I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049924
Gene: ENSMUSG00000050478
AA Change: T16I

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 damaging
Transcript: ENSMUST00000213379
AA Change: T16I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217106
AA Change: T16I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Adcy4	A	T	14: 56,010,104 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,489,047 (GRCm39)	D347A	probably damaging	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,076,948 (GRCm39)	E344G	probably damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Txndc5	T	C	13: 38,691,872 (GRCm39)	K165E	probably damaging	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,436,407 (GRCm39)	V223D	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
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
R5337:Or6c214	UTSW	10	129,590,403 (GRCm39)	nonsense	probably null
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'- TGTGAAGCAAGCCTCCACTGAAAT -3'
(R):5'- ACTTAGCAGGAAACAAAACCTTCTGCAT -3'

Sequencing Primer
(F):5'- GGTCACTATGCTGACCAGGAAC -3'
(R):5'- TGCATTTAATTTCATTGTATTGCAGG -3'

Posted On

2013-07-30