Mutagenetix > Incidental Mutation

Incidental Mutation 'R7123:Or14j7'

552169

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

045211-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38234459-38235385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38234567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 37 (L37M)

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: L37M

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079121
Gene: ENSMUSG00000059030
AA Change: L37M

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: L37M

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,949 (GRCm39)	I1521T	probably damaging	Het
Adgrv1	A	T	13: 81,740,693 (GRCm39)	I145N	probably damaging	Het
Ago3	C	A	4: 126,248,798 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,257,297 (GRCm39)	W1178R	probably benign	Het
Akap3	A	T	6: 126,843,267 (GRCm39)	I629L	probably benign	Het
Aknad1	T	G	3: 108,682,560 (GRCm39)	Y545*	probably null	Het
Anapc1	C	A	2: 128,454,930 (GRCm39)	V1925F	probably damaging	Het
Barhl1	C	T	2: 28,799,943 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,669,413 (GRCm39)	E294G	probably damaging	Het
Cfd	G	A	10: 79,728,331 (GRCm39)	G231S	probably damaging	Het
Csf2ra	A	G	19: 61,215,300 (GRCm39)	V105A	probably damaging	Het
Dhtkd1	A	T	2: 5,922,591 (GRCm39)	W523R	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc22	A	C	15: 98,999,085 (GRCm39)	Y90S	possibly damaging	Het
Ebna1bp2	A	G	4: 118,482,772 (GRCm39)	K254E	probably damaging	Het
Gfpt1	A	T	6: 87,033,168 (GRCm39)	D131V	probably damaging	Het
Gm5460	A	G	14: 33,763,982 (GRCm39)	I21V	unknown	Het
H2-T9	A	G	17: 36,438,686 (GRCm39)	I235T	possibly damaging	Het
Htr1d	C	T	4: 136,169,664 (GRCm39)		probably benign	Het
Kndc1	G	A	7: 139,516,749 (GRCm39)	E1570K	probably damaging	Het
Kntc1	T	C	5: 123,919,789 (GRCm39)	Y887H	probably damaging	Het
Kti12	T	C	4: 108,705,679 (GRCm39)	S198P	probably benign	Het
Mcmdc2	A	T	1: 10,010,643 (GRCm39)	I604F	unknown	Het
Mmp8	A	T	9: 7,563,196 (GRCm39)	D253V	probably damaging	Het
Muc4	T	C	16: 32,569,509 (GRCm39)	S252P	possibly damaging	Het
Myo5c	A	G	9: 75,196,505 (GRCm39)	K1317R	probably benign	Het
Ncoa7	T	C	10: 30,530,435 (GRCm39)	I749V	probably benign	Het
Nfrkb	A	G	9: 31,325,311 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,904,477 (GRCm39)	T7166A	probably benign	Het
Obsl1	A	G	1: 75,466,313 (GRCm39)	S1472P	probably damaging	Het
Or1e20-ps1	T	A	11: 73,324,536 (GRCm39)	D172V	unknown	Het
Orc1	A	C	4: 108,445,884 (GRCm39)	M1L	probably damaging	Het
Pkd1	T	A	17: 24,813,742 (GRCm39)	S4069T	possibly damaging	Het
Pus1	T	C	5: 110,921,798 (GRCm39)	*442W	probably null	Het
Rgma	A	C	7: 73,059,139 (GRCm39)	D97A	probably damaging	Het
Ryr1	T	C	7: 28,746,279 (GRCm39)	K3834E	probably benign	Het
Sars2	T	C	7: 28,452,866 (GRCm39)	V475A	probably benign	Het
Scamp2	A	T	9: 57,494,385 (GRCm39)	T253S	probably benign	Het
Skint9	C	T	4: 112,248,174 (GRCm39)	W190*	probably null	Het
Spata31d1e	G	A	13: 59,891,254 (GRCm39)	Q189*	probably null	Het
Sv2b	C	T	7: 74,767,450 (GRCm39)	V649I	possibly damaging	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tiparp	A	T	3: 65,460,948 (GRCm39)	I646F	probably damaging	Het
Topaz1	G	A	9: 122,577,480 (GRCm39)	G130D	probably damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,619,051 (GRCm39)	P319S	possibly damaging	Het
Umodl1	T	A	17: 31,201,318 (GRCm39)	F416I	possibly damaging	Het
Vmn2r104	T	C	17: 20,261,088 (GRCm39)	D445G	probably benign	Het
Wnk2	A	G	13: 49,235,462 (GRCm39)	V651A	possibly damaging	Het
Zbtb21	C	T	16: 97,751,112 (GRCm39)	S1057N	probably damaging	Het
Zfp451	A	T	1: 33,815,950 (GRCm39)	C667S	probably damaging	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
R5165:Or14j7	UTSW	17	38,235,252 (GRCm39)	missense	probably benign	0.14
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
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'- ACTGTTGATTCTTGCCATTGAAGG -3'
(R):5'- AAATGTAGCCACTTCGTGCC -3'

Sequencing Primer
(F):5'- TTATCAAGTTTTCAAGCTACAATTGC -3'
(R):5'- CACTTCGTGCCAGGGAAC -3'

Posted On

2019-05-15