Mutagenetix > Incidental Mutation

Incidental Mutation 'R8009:Or14j5'

616828

Institutional Source

Beutler Lab

Gene Symbol

Or14j5

Ensembl Gene

ENSMUSG00000109212

Gene Name

olfactory receptor family 14 subfamily J member 5

Synonyms

Olfr126, GA_x6K02T2PSCP-2307164-2308123, MOR218-1

MMRRC Submission

046049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R8009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38161485-38162444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38161693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 70 (D70V)

Ref Sequence

ENSEMBL: ENSMUSP00000149896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000213844] [ENSMUST00000217487]

AlphaFold

Q8VGF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000174139
AA Change: D70V

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

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: D70V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7TM_GPCR_Srx	32	307	3.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4.2e-6	PFAM
Pfam:7tm_1	41	290	2.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213844
AA Change: D70V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217487
AA Change: D70V

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

Meta Mutation Damage Score

0.7855

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Baz1a	A	T	12: 54,941,816 (GRCm39)	Y1466*	probably null	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Esyt1	T	C	10: 128,347,354 (GRCm39)	E1057G	probably benign	Het
Fsip2	A	G	2: 82,818,793 (GRCm39)	E4842G	possibly damaging	Het
Gadd45b	G	A	10: 80,766,984 (GRCm39)	V90I	probably benign	Het
Gfi1	T	A	5: 107,871,667 (GRCm39)	H79L	probably damaging	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Itsn2	G	A	12: 4,714,553 (GRCm39)	A950T	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Lrch3	A	T	16: 32,826,083 (GRCm39)	D720V	possibly damaging	Het
Lrrk1	T	C	7: 65,915,222 (GRCm39)	D1622G	possibly damaging	Het
Meioc	G	C	11: 102,567,569 (GRCm39)	A788P	probably damaging	Het
Mmp1a	A	T	9: 7,467,236 (GRCm39)	T271S	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or8k39	A	G	2: 86,563,848 (GRCm39)	L36P	probably damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Phactr3	A	C	2: 177,974,737 (GRCm39)	R523S	probably damaging	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Prkcg	A	G	7: 3,362,708 (GRCm39)	D294G	probably benign	Het
Psg28	T	A	7: 18,156,922 (GRCm39)	I438L	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Rps6ka5	T	C	12: 100,544,048 (GRCm39)	E350G	probably damaging	Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,691,636 (GRCm39)	D313G	probably damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Stxbp5	A	G	10: 9,692,046 (GRCm39)	V366A	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tlr3	G	A	8: 45,853,819 (GRCm39)	T167M	not run	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tmprss15	C	T	16: 78,887,751 (GRCm39)	V19M	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Uso1	A	T	5: 92,314,439 (GRCm39)	E115D	probably benign	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het

Other mutations in Or14j5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Or14j5	APN	17	38,161,514 (GRCm39)	missense	probably benign	0.01
IGL01656:Or14j5	APN	17	38,162,029 (GRCm39)	missense	possibly damaging	0.60
IGL01674:Or14j5	APN	17	37,920,853 (GRCm39)	missense	probably damaging	0.99
IGL01903:Or14j5	APN	17	37,920,758 (GRCm39)	missense	possibly damaging	0.64
IGL02262:Or14j5	APN	17	38,162,154 (GRCm39)	missense	probably damaging	1.00
IGL02445:Or14j5	APN	17	38,162,008 (GRCm39)	missense	probably damaging	0.97
R0559:Or14j5	UTSW	17	38,161,746 (GRCm39)	nonsense	probably null
R1164:Or14j5	UTSW	17	38,161,575 (GRCm39)	missense	probably damaging	0.99
R1828:Or14j5	UTSW	17	38,161,966 (GRCm39)	missense	probably benign	0.11
R1840:Or14j5	UTSW	17	38,161,639 (GRCm39)	missense	probably damaging	1.00
R1882:Or14j5	UTSW	17	38,161,839 (GRCm39)	missense	probably damaging	1.00
R2368:Or14j5	UTSW	17	38,161,509 (GRCm39)	missense	probably benign	0.00
R2377:Or14j5	UTSW	17	38,161,498 (GRCm39)	missense	probably damaging	1.00
R3832:Or14j5	UTSW	17	38,162,071 (GRCm39)	missense	probably benign	0.00
R6589:Or14j5	UTSW	17	38,161,727 (GRCm39)	nonsense	probably null
R7794:Or14j5	UTSW	17	38,161,678 (GRCm39)	missense	probably benign	0.10
R7853:Or14j5	UTSW	17	38,161,714 (GRCm39)	missense	probably damaging	1.00
R8501:Or14j5	UTSW	17	38,161,756 (GRCm39)	missense	probably damaging	1.00
R8874:Or14j5	UTSW	17	38,161,675 (GRCm39)	missense	probably damaging	1.00
R8902:Or14j5	UTSW	17	38,162,101 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GAGTGGATTCCTCCTCATGG -3'
(R):5'- AAGTGCACTTTCTGGGACTC -3'

Sequencing Primer
(F):5'- GGGTTCTCTGACAACCATGAATTGC -3'
(R):5'- GGGACTCATTATGACCTCATAGTGC -3'

Posted On

2020-01-23