Mutagenetix > Incidental Mutation

Incidental Mutation 'R7688:Or14a257'

593207

Institutional Source

Beutler Lab

Gene Symbol

Or14a257

Ensembl Gene

ENSMUSG00000062878

Gene Name

olfactory receptor family 14 subfamily A member 257

Synonyms

GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4

MMRRC Submission

045752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86137759-86138757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86138183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 192 (V192A)

Ref Sequence

ENSEMBL: ENSMUSP00000150228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]

AlphaFold

Q7TS06

Predicted Effect

probably benign
Transcript: ENSMUST00000077800
AA Change: V192A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: V192A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.2e-37	PFAM
Pfam:7tm_1	39	288	8.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213223
AA Change: V192A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000216968
AA Change: V192A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000217110
AA Change: V192A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	C	17: 35,365,868 (GRCm39)	Y1102H	probably damaging	Het
Cldn24	G	A	8: 48,275,740 (GRCm39)	C188Y	probably damaging	Het
Dennd4c	T	C	4: 86,713,377 (GRCm39)	W443R	probably damaging	Het
Dmxl1	T	A	18: 50,088,938 (GRCm39)	C2806S	probably benign	Het
Epb41l2	T	C	10: 25,355,036 (GRCm39)	Y449H	probably damaging	Het
Ets1	T	A	9: 32,607,720 (GRCm39)	I14N	probably benign	Het
F11	A	T	8: 45,703,127 (GRCm39)	F188I	probably damaging	Het
Fam13a	C	T	6: 58,912,692 (GRCm39)	V654I	probably benign	Het
Flt1	C	T	5: 147,613,135 (GRCm39)	V369I	probably benign	Het
Focad	T	A	4: 88,096,370 (GRCm39)	Y251N	probably damaging	Het
Gm5150	A	G	3: 16,017,747 (GRCm39)	S175P	probably benign	Het
Hnrnpul2	T	A	19: 8,797,994 (GRCm39)	S117T	probably benign	Het
Kcnj5	A	G	9: 32,234,264 (GRCm39)	V17A	probably benign	Het
Kctd1	T	G	18: 15,107,255 (GRCm39)	T737P	probably benign	Het
Kif14	T	C	1: 136,422,392 (GRCm39)	V894A	probably damaging	Het
Klhl12	A	T	1: 134,416,768 (GRCm39)	T497S	probably benign	Het
Klhl6	C	A	16: 19,765,881 (GRCm39)	V574L	probably damaging	Het
Lama1	A	T	17: 68,068,623 (GRCm39)	D774V		Het
Leng1	G	A	7: 3,665,809 (GRCm39)	P176L	probably benign	Het
Lig1	T	C	7: 13,023,389 (GRCm39)	L196P	probably benign	Het
Macrod1	C	A	19: 7,174,230 (GRCm39)	Y245*	probably null	Het
Mcf2l	T	A	8: 12,998,130 (GRCm39)	I6N	possibly damaging	Het
Megf11	A	G	9: 64,599,146 (GRCm39)	D687G	possibly damaging	Het
Muc4	A	T	16: 32,570,278 (GRCm39)	H446L	possibly damaging	Het
Oasl2	A	T	5: 115,035,909 (GRCm39)	I62F	probably benign	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,959 (GRCm39)	F272I	probably damaging	Het
Or52e8	C	A	7: 104,624,332 (GRCm39)	A291S	possibly damaging	Het
Pdcl2	T	C	5: 76,465,770 (GRCm39)	N150S	probably benign	Het
Pfkfb3	A	G	2: 11,497,450 (GRCm39)	Y54H	probably damaging	Het
Rab25	A	T	3: 88,452,270 (GRCm39)		probably null	Het
Slc22a18	G	A	7: 143,033,560 (GRCm39)	G104S	probably damaging	Het
Slc44a5	T	A	3: 153,679,437 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Spata18	A	G	5: 73,809,005 (GRCm39)	N26S	probably benign	Het
Tas2r115	T	A	6: 132,714,643 (GRCm39)	S103C	probably damaging	Het
Tigd2	T	A	6: 59,187,382 (GRCm39)	M83K	probably damaging	Het
Tnxb	T	A	17: 34,890,880 (GRCm39)	C408S	probably benign	Het
Trbj2-3	T	A	6: 41,520,159 (GRCm39)	S1R	possibly damaging	Het
Triobp	T	C	15: 78,845,311 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,781,409 (GRCm39)	Q1349R	probably benign	Het
Ube2j2	T	A	4: 156,040,885 (GRCm39)	L171I	probably damaging	Het
Usp17ld	C	A	7: 102,899,982 (GRCm39)	G317W	probably damaging	Het
Vinac1	G	A	2: 128,880,964 (GRCm39)	Q321*	probably null	Het
Vmn2r72	T	A	7: 85,404,098 (GRCm39)	D31V	probably benign	Het
Zfp317	T	G	9: 19,559,251 (GRCm39)	H488Q	probably damaging	Het

Other mutations in Or14a257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Or14a257	APN	7	86,138,765 (GRCm39)	utr 5 prime	probably benign
IGL01603:Or14a257	APN	7	86,138,139 (GRCm39)	missense	possibly damaging	0.92
IGL02389:Or14a257	APN	7	86,138,336 (GRCm39)	missense	probably damaging	0.98
IGL03146:Or14a257	APN	7	86,138,402 (GRCm39)	missense	probably damaging	1.00
R0680:Or14a257	UTSW	7	86,138,545 (GRCm39)	missense	probably benign
R0834:Or14a257	UTSW	7	86,138,698 (GRCm39)	missense	probably benign	0.11
R1132:Or14a257	UTSW	7	86,138,425 (GRCm39)	missense	probably benign	0.03
R1519:Or14a257	UTSW	7	86,138,333 (GRCm39)	missense	probably damaging	0.99
R1881:Or14a257	UTSW	7	86,138,646 (GRCm39)	missense	probably benign	0.01
R2170:Or14a257	UTSW	7	86,137,778 (GRCm39)	missense	probably benign	0.03
R4500:Or14a257	UTSW	7	86,138,127 (GRCm39)	missense	probably benign	0.00
R4524:Or14a257	UTSW	7	86,138,034 (GRCm39)	missense	probably damaging	1.00
R5184:Or14a257	UTSW	7	86,138,499 (GRCm39)	frame shift	probably null
R5521:Or14a257	UTSW	7	86,137,839 (GRCm39)	missense	probably benign	0.08
R7448:Or14a257	UTSW	7	86,138,417 (GRCm39)	missense	probably damaging	1.00
R7643:Or14a257	UTSW	7	86,138,776 (GRCm39)	critical splice acceptor site	probably null
R8104:Or14a257	UTSW	7	86,138,231 (GRCm39)	missense	probably damaging	1.00
R8732:Or14a257	UTSW	7	86,138,061 (GRCm39)	missense	probably damaging	0.96
R8973:Or14a257	UTSW	7	86,138,487 (GRCm39)	missense	probably damaging	1.00
R9235:Or14a257	UTSW	7	86,138,306 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACAACTGAGGGTGGCTTCAG -3'
(R):5'- AGACCATCATGAGTAGTGGTAACTG -3'

Sequencing Primer
(F):5'- CTGAGGGTGGCTTCAGATAGAC -3'
(R):5'- CATCATGAGTAGTGGTAACTGTGTGC -3'

Posted On

2019-11-12