Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Or14j5'

274084

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

040887-MU

Accession Numbers

Essential gene?

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

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38161485-38162444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38162071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 196 (V196A)

Ref Sequence

ENSEMBL: ENSMUSP00000151205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076936] [ENSMUST00000174139] [ENSMUST00000213844] [ENSMUST00000217487]

AlphaFold

Q8VGF0

Predicted Effect

probably benign
Transcript: ENSMUST00000076936
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: V196A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	24	252	2.6e-7	PFAM
Pfam:7tm_4	31	308	3.2e-45	PFAM
Pfam:7tm_1	41	290	2.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174139
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: V196A

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

noncoding transcript
Transcript: ENSMUST00000201362
AA Change: V196A

Predicted Effect

probably benign
Transcript: ENSMUST00000213844
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217487
AA Change: V196A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	probably damaging	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
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
R8009:Or14j5	UTSW	17	38,161,693 (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'- GTCCCAGAAAGTGCACTTGG -3'
(R):5'- TAAAGCAGTTGGTGAGTCTGAG -3'

Sequencing Primer
(F):5'- CAGAAAGTGCACTTGGGCTGTG -3'
(R):5'- GCACAAATGCCTGTTGAGAG -3'

Posted On

2015-04-02