Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Or14c40'

32763

Institutional Source

Beutler Lab

Gene Symbol

Or14c40

Ensembl Gene

ENSMUSG00000063394

Gene Name

olfactory receptor family 14 subfamily C member 40

Synonyms

Olfr293, MOR221-3, GA_x6K02T2NHDJ-9457744-9456734

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0045 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

86312872-86313882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86313548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 226 (L226S)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]

AlphaFold

Q7TS10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081474
AA Change: L226S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: L226S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2.1e-45	PFAM
Pfam:7tm_1	45	295	1.6e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214401
AA Change: L226S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215280
AA Change: L226S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Or14c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02478:Or14c40	APN	7	86,313,344 (GRCm39)	missense	probably damaging	0.97
IGL02659:Or14c40	APN	7	86,313,289 (GRCm39)	missense	probably benign	0.06
IGL02730:Or14c40	APN	7	86,313,275 (GRCm39)	missense	probably damaging	0.98
IGL02959:Or14c40	APN	7	86,313,737 (GRCm39)	missense	probably damaging	0.98
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0152:Or14c40	UTSW	7	86,313,719 (GRCm39)	missense	probably damaging	1.00
R0669:Or14c40	UTSW	7	86,313,544 (GRCm39)	missense	possibly damaging	0.79
R0942:Or14c40	UTSW	7	86,313,314 (GRCm39)	missense	probably damaging	0.98
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1656:Or14c40	UTSW	7	86,313,331 (GRCm39)	missense	probably benign	0.04
R2010:Or14c40	UTSW	7	86,313,811 (GRCm39)	missense	probably benign
R2056:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2059:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2105:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R4166:Or14c40	UTSW	7	86,313,602 (GRCm39)	missense	probably damaging	1.00
R4303:Or14c40	UTSW	7	86,313,163 (GRCm39)	missense	probably benign	0.16
R4531:Or14c40	UTSW	7	86,313,479 (GRCm39)	missense	probably benign	0.02
R4808:Or14c40	UTSW	7	86,313,146 (GRCm39)	missense	probably benign	0.00
R5748:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	possibly damaging	0.61
R5937:Or14c40	UTSW	7	86,313,684 (GRCm39)	missense	probably benign	0.00
R6178:Or14c40	UTSW	7	86,313,819 (GRCm39)	missense	probably benign	0.45
R6766:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	probably damaging	0.98
R7315:Or14c40	UTSW	7	86,313,445 (GRCm39)	missense	probably damaging	0.99
R7585:Or14c40	UTSW	7	86,313,880 (GRCm39)	makesense	probably null
R9201:Or14c40	UTSW	7	86,313,749 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCCATATGCAAGCCTCTCCTCTAC -3'
(R):5'- AGAACACAGAAAGTGTCATCTCCTGAAC -3'

Sequencing Primer
(F):5'- TGCATTCAGATGACACTGGC -3'
(R):5'- GAAAGTGTCATCTCCTGAACTACTTC -3'

Posted On

2013-05-09