Mutagenetix > Incidental Mutation

Incidental Mutation 'R6178:Or14c40'

487874

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

044320-MU

Accession Numbers

Essential gene?

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

Stock #

R6178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86312872-86313882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86313819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 316 (I316M)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

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

AlphaFold

Q7TS10

Predicted Effect

probably benign
Transcript: ENSMUST00000081474
AA Change: I316M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: I316M

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

probably benign
Transcript: ENSMUST00000214401
AA Change: I316M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215280
AA Change: I316M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (54/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,678,468 (GRCm39)	I61V	probably benign	Het
Afg3l2	G	A	18: 67,542,598 (GRCm39)	T616I	possibly damaging	Het
Aktip	T	C	8: 91,852,671 (GRCm39)	N195S	probably damaging	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Atg7	T	A	6: 114,701,856 (GRCm39)	I621N	probably damaging	Het
Becn1	T	A	11: 101,182,336 (GRCm39)	I283F	probably damaging	Het
Btnl12	T	C	16: 37,676,422 (GRCm39)	Y115C	probably damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Celsr1	C	A	15: 85,785,222 (GRCm39)	R3004M	probably benign	Het
Clspn	A	T	4: 126,471,529 (GRCm39)		probably null	Het
Csmd3	T	C	15: 48,536,854 (GRCm39)	Y116C	probably damaging	Het
Dcp1a	T	G	14: 30,245,261 (GRCm39)	*603G	probably null	Het
Dmrtc1b	C	T	X: 101,757,169 (GRCm39)	P205S	possibly damaging	Het
Fev	G	T	1: 74,923,698 (GRCm39)		probably benign	Het
Fry	T	A	5: 150,377,987 (GRCm39)	V393E	probably damaging	Het
Gm30646	A	G	7: 30,132,081 (GRCm39)		probably null	Het
Gm3676	C	T	14: 41,363,452 (GRCm39)	E175K	probably benign	Het
Gm4847	T	C	1: 166,469,905 (GRCm39)	Y56C	probably damaging	Het
Gm5422	T	C	10: 31,125,688 (GRCm39)		noncoding transcript	Het
Gstm6	A	G	3: 107,848,397 (GRCm39)	V174A	probably benign	Het
Isoc1	G	T	18: 58,804,664 (GRCm39)	V191F	possibly damaging	Het
Kalrn	T	A	16: 33,874,009 (GRCm39)	D132V	possibly damaging	Het
Kcp	T	C	6: 29,482,887 (GRCm39)	D1394G	possibly damaging	Het
Marchf10	T	G	11: 105,280,440 (GRCm39)	D615A	probably damaging	Het
Mau2	A	G	8: 70,495,187 (GRCm39)	I50T	probably damaging	Het
Mgp	A	G	6: 136,849,722 (GRCm39)	C79R	probably damaging	Het
Mpdz	T	A	4: 81,226,602 (GRCm39)	K1344N	probably damaging	Het
Mrgpre	T	A	7: 143,334,708 (GRCm39)	Y265F	possibly damaging	Het
Mro	G	A	18: 74,006,295 (GRCm39)	V80M	possibly damaging	Het
Mrpl44	G	T	1: 79,755,895 (GRCm39)	C167F	possibly damaging	Het
Muc5b	A	G	7: 141,410,079 (GRCm39)	M1218V	probably null	Het
Naa16	T	C	14: 79,620,780 (GRCm39)	I100V	possibly damaging	Het
Nup205	A	T	6: 35,220,778 (GRCm39)	Y1860F	possibly damaging	Het
Or10aa3	A	T	1: 173,878,533 (GRCm39)	Y198F	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4c103	T	C	2: 88,513,977 (GRCm39)	Y33C	probably damaging	Het
Plcb3	A	G	19: 6,932,071 (GRCm39)		probably null	Het
Pnpla3	G	A	15: 84,065,132 (GRCm39)	A309T	probably benign	Het
Ranbp10	A	G	8: 106,498,296 (GRCm39)	S624P	possibly damaging	Het
Ripor2	T	C	13: 24,894,113 (GRCm39)	S714P	possibly damaging	Het
Robo4	C	T	9: 37,316,926 (GRCm39)	Q414*	probably null	Het
Shc2	A	G	10: 79,465,954 (GRCm39)	I161T	probably damaging	Het
Slc35b2	C	T	17: 45,877,302 (GRCm39)	T143I	probably benign	Het
Slc39a13	T	C	2: 90,898,880 (GRCm39)	D77G	probably damaging	Het
Snx6	A	C	12: 54,807,249 (GRCm39)	D243E	probably damaging	Het
Taar8b	A	G	10: 23,967,711 (GRCm39)	V161A	probably benign	Het
Tbr1	T	A	2: 61,635,159 (GRCm39)	D36E	possibly damaging	Het
Tdpoz2	T	C	3: 93,559,618 (GRCm39)	N118S	probably benign	Het
Tgfb1i1	T	C	7: 127,852,517 (GRCm39)	F478L	probably damaging	Het
Tmprss11f	T	C	5: 86,704,837 (GRCm39)	D27G	probably benign	Het
Trim30d	T	G	7: 104,137,202 (GRCm39)	M1L	probably damaging	Het
Trpm7	A	G	2: 126,679,301 (GRCm39)	V420A	probably damaging	Het
Ubap2	G	T	4: 41,206,981 (GRCm39)	P199H	probably benign	Het
Ubash3b	T	C	9: 40,926,212 (GRCm39)	T512A	probably damaging	Het
Zfp65	G	A	13: 67,858,437 (GRCm39)	P76S	probably benign	Het
Zic5	A	T	14: 122,696,748 (GRCm39)	H622Q	unknown	Het
Zpld1	A	T	16: 55,053,993 (GRCm39)	N266K	probably damaging	Het
Zswim1	A	G	2: 164,667,972 (GRCm39)		probably null	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
R0045:Or14c40	UTSW	7	86,313,548 (GRCm39)	missense	possibly damaging	0.90
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
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'- TCTGCTGCCTATGTGTATCTAAGAC -3'
(R):5'- TATGAATGTGGGTGCCCTAGC -3'

Sequencing Primer
(F):5'- GCCTATGTGTATCTAAGACCTCCAG -3'
(R):5'- GCCCTAGCATGTGTGTGTATG -3'

Posted On

2017-10-10