Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Or14j7'

395676

Institutional Source

Beutler Lab

Gene Symbol

Or14j7

Ensembl Gene

ENSMUSG00000059030

Gene Name

olfactory receptor family 14 subfamily J member 7

Synonyms

MOR218-13, GA_x6K02T2PSCP-2374126-2375048, Olfr128

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38234459-38235385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38235252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 265 (D265G)

Ref Sequence

ENSEMBL: ENSMUSP00000151065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080231] [ENSMUST00000216440]

AlphaFold

Q7TRJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000080231
AA Change: D265G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079121
Gene: ENSMUSG00000059030
AA Change: D265G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.1e-5	PFAM
Pfam:7tm_1	41	290	1.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216440
AA Change: D265G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	Het

Other mutations in Or14j7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Or14j7	APN	17	38,234,850 (GRCm39)	missense	possibly damaging	0.73
IGL01940:Or14j7	APN	17	38,235,177 (GRCm39)	missense	probably damaging	1.00
R0427:Or14j7	UTSW	17	38,234,520 (GRCm39)	missense	probably benign	0.00
R0462:Or14j7	UTSW	17	38,234,667 (GRCm39)	missense	probably damaging	1.00
R0546:Or14j7	UTSW	17	38,235,229 (GRCm39)	nonsense	probably null
R0760:Or14j7	UTSW	17	38,235,005 (GRCm39)	nonsense	probably null
R0940:Or14j7	UTSW	17	38,234,591 (GRCm39)	missense	probably damaging	0.98
R1898:Or14j7	UTSW	17	38,234,516 (GRCm39)	missense	possibly damaging	0.91
R1935:Or14j7	UTSW	17	38,234,993 (GRCm39)	missense	probably damaging	1.00
R2060:Or14j7	UTSW	17	38,234,771 (GRCm39)	missense	probably benign	0.00
R4680:Or14j7	UTSW	17	38,234,813 (GRCm39)	missense	probably damaging	1.00
R5526:Or14j7	UTSW	17	38,235,383 (GRCm39)	makesense	probably null
R5594:Or14j7	UTSW	17	38,234,502 (GRCm39)	missense	probably benign	0.00
R5751:Or14j7	UTSW	17	38,234,861 (GRCm39)	missense	probably benign	0.44
R6330:Or14j7	UTSW	17	38,234,685 (GRCm39)	missense	possibly damaging	0.77
R7123:Or14j7	UTSW	17	38,234,567 (GRCm39)	missense	probably benign	0.33
R7354:Or14j7	UTSW	17	38,235,284 (GRCm39)	missense	probably benign	0.00
R7827:Or14j7	UTSW	17	38,234,568 (GRCm39)	nonsense	probably null
R8258:Or14j7	UTSW	17	38,234,847 (GRCm39)	missense	probably damaging	1.00
R8259:Or14j7	UTSW	17	38,234,847 (GRCm39)	missense	probably damaging	1.00
R8686:Or14j7	UTSW	17	38,235,168 (GRCm39)	missense	probably benign	0.00
R8787:Or14j7	UTSW	17	38,235,075 (GRCm39)	missense	probably benign	0.06
R9036:Or14j7	UTSW	17	38,235,168 (GRCm39)	missense	probably benign	0.03
R9278:Or14j7	UTSW	17	38,235,275 (GRCm39)	missense	probably benign
R9761:Or14j7	UTSW	17	38,234,934 (GRCm39)	missense	probably benign	0.03
Z1177:Or14j7	UTSW	17	38,234,618 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCTGCTCTAATGATGACTTTGGAC -3'
(R):5'- TGTGTGCAGTGTTAGCAGAC -3'

Sequencing Primer
(F):5'- GACTTTGGACTACTGAAAGTGTC -3'
(R):5'- GTGTTAGCAGACACTAAAACCAG -3'

Posted On

2016-06-21