Mutagenetix > Incidental Mutation

Incidental Mutation 'R9371:Or14j6'

709344

Institutional Source

Beutler Lab

Gene Symbol

Or14j6

Ensembl Gene

ENSMUSG00000058114

Gene Name

olfactory receptor family 14 subfamily J member 6

Synonyms

MOR218-7, Olfr127, GA_x6K02T2PSCP-2354126-2355093

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38214439-38215410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38214962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 175 (H175R)

Ref Sequence

ENSEMBL: ENSMUSP00000149133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076331] [ENSMUST00000217223]

AlphaFold

Q8VF25

Predicted Effect

probably benign
Transcript: ENSMUST00000076331
AA Change: H175R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: H175R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7tm_1	41	290	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217223
AA Change: H175R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,663 (GRCm39)	I109T	probably damaging	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca8b	T	G	11: 109,858,498 (GRCm39)	Q568P	probably damaging	Het
Add3	A	G	19: 53,221,499 (GRCm39)	T204A	probably damaging	Het
Afg3l2	C	A	18: 67,567,262 (GRCm39)	R196L	possibly damaging	Het
Agps	T	A	2: 75,742,024 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,011,852 (GRCm39)	S852G	possibly damaging	Het
Aoc1	A	G	6: 48,883,102 (GRCm39)	D326G	probably benign	Het
Cecr2	A	G	6: 120,739,229 (GRCm39)	T1319A	probably benign	Het
Cenpo	C	T	12: 4,266,686 (GRCm39)	V141I	probably benign	Het
Clca4b	A	G	3: 144,631,845 (GRCm39)	L220S	possibly damaging	Het
Dicer1	A	G	12: 104,670,991 (GRCm39)	L1017P	probably damaging	Het
Ero1b	T	G	13: 12,589,728 (GRCm39)	C44G	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Fmo3	T	A	1: 162,796,281 (GRCm39)	E97V	probably benign	Het
Gcnt4	G	T	13: 97,083,634 (GRCm39)	R310L	possibly damaging	Het
Gm7298	A	G	6: 121,744,541 (GRCm39)	I520V	probably benign	Het
Gmpr	T	C	13: 45,699,471 (GRCm39)	L327P	probably damaging	Het
Grid2	T	A	6: 64,677,506 (GRCm39)	H108Q	unknown	Het
Hmcn2	G	T	2: 31,301,917 (GRCm39)	L2935F	probably damaging	Het
Hnf1b	T	C	11: 83,779,986 (GRCm39)	S440P	probably benign	Het
Hsph1	A	T	5: 149,543,395 (GRCm39)	Y644N	probably damaging	Het
Igf2r	A	G	17: 12,924,646 (GRCm39)	I1057T	possibly damaging	Het
Igfn1	T	C	1: 135,906,001 (GRCm39)	E269G	probably damaging	Het
Igkv14-126	A	G	6: 67,873,352 (GRCm39)	T27A	possibly damaging	Het
Inhca	A	T	9: 103,158,252 (GRCm39)	Y103N	probably benign	Het
Kcnj15	A	G	16: 95,097,556 (GRCm39)	R393G	unknown	Het
Lamb1	A	G	12: 31,348,863 (GRCm39)	T632A	probably damaging	Het
Lrrk2	T	C	15: 91,607,407 (GRCm39)	L590P	probably damaging	Het
Mrm3	A	G	11: 76,138,286 (GRCm39)	T225A	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,335 (GRCm39)	T895A	possibly damaging	Het
Myh1	G	A	11: 67,110,631 (GRCm39)		probably null	Het
Naip2	T	A	13: 100,298,354 (GRCm39)	K561*	probably null	Het
Necab2	C	T	8: 120,173,923 (GRCm39)	P44S	probably benign	Het
Nrde2	T	C	12: 100,092,477 (GRCm39)	S1126G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or8c17	T	A	9: 38,179,926 (GRCm39)	V31E	possibly damaging	Het
Pecam1	T	G	11: 106,581,947 (GRCm39)	D333A	probably benign	Het
Prss27	T	C	17: 24,257,141 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 79,082,300 (GRCm39)	E100G	probably damaging	Het
Rnft2	A	G	5: 118,340,982 (GRCm39)	F299L	probably damaging	Het
Rptor	A	G	11: 119,562,152 (GRCm39)	N105S	possibly damaging	Het
S100a7l2	T	C	3: 90,997,698 (GRCm39)	T6A	unknown	Het
Scgb2b3	T	A	7: 31,059,642 (GRCm39)	H44L	probably benign	Het
Slc22a17	A	T	14: 55,147,139 (GRCm39)	V53D	possibly damaging	Het
Slc39a14	G	A	14: 70,547,569 (GRCm39)	T298M	probably benign	Het
Sorbs1	G	A	19: 40,315,324 (GRCm39)	T496M	probably damaging	Het
Spata31e1	G	C	13: 49,939,052 (GRCm39)	T886S	unknown	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tas1r3	T	C	4: 155,945,059 (GRCm39)	T721A	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmie	A	T	9: 110,696,651 (GRCm39)	C77S	probably damaging	Het
Tpp2	T	A	1: 43,999,369 (GRCm39)	I381K	probably damaging	Het
Ttn	G	C	2: 76,776,822 (GRCm39)	A1526G	unknown	Het
Vmn2r12	T	A	5: 109,234,452 (GRCm39)	M587L	probably benign	Het
Zeb2	G	T	2: 44,888,912 (GRCm39)	H344Q	probably damaging	Het
Zfp292	A	G	4: 34,810,800 (GRCm39)	I753T	probably damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfp677	C	T	17: 21,618,053 (GRCm39)	T370M	probably damaging	Het
Zfp947	G	A	17: 22,364,384 (GRCm39)	T430I	possibly damaging	Het

Other mutations in Or14j6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Or14j6	APN	17	38,215,148 (GRCm39)	missense	probably damaging	0.98
IGL00981:Or14j6	APN	17	38,215,072 (GRCm39)	missense	probably benign	0.03
IGL02271:Or14j6	APN	17	38,215,134 (GRCm39)	missense	probably benign	0.22
IGL02409:Or14j6	APN	17	38,214,679 (GRCm39)	missense	probably damaging	0.99
R1649:Or14j6	UTSW	17	38,215,060 (GRCm39)	missense	probably benign	0.09
R1808:Or14j6	UTSW	17	38,214,661 (GRCm39)	missense	probably damaging	1.00
R2360:Or14j6	UTSW	17	38,215,345 (GRCm39)	missense	possibly damaging	0.94
R3808:Or14j6	UTSW	17	38,214,464 (GRCm39)	missense	probably benign	0.00
R3809:Or14j6	UTSW	17	38,214,464 (GRCm39)	missense	probably benign	0.00
R3953:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R3955:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R3957:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R4683:Or14j6	UTSW	17	38,215,039 (GRCm39)	missense	probably benign
R5430:Or14j6	UTSW	17	38,215,304 (GRCm39)	missense	probably damaging	1.00
R5716:Or14j6	UTSW	17	38,214,719 (GRCm39)	missense	probably benign	0.00
R5866:Or14j6	UTSW	17	38,214,700 (GRCm39)	nonsense	probably null
R7074:Or14j6	UTSW	17	38,214,718 (GRCm39)	missense	possibly damaging	0.80
R7238:Or14j6	UTSW	17	38,215,328 (GRCm39)	missense	probably benign	0.37
R8098:Or14j6	UTSW	17	38,215,250 (GRCm39)	missense	probably damaging	1.00
R8212:Or14j6	UTSW	17	38,215,148 (GRCm39)	missense	probably benign	0.00
R8559:Or14j6	UTSW	17	38,214,719 (GRCm39)	missense	probably benign	0.00
R8865:Or14j6	UTSW	17	38,215,115 (GRCm39)	missense	probably damaging	1.00
R9046:Or14j6	UTSW	17	38,215,145 (GRCm39)	missense	probably damaging	1.00
R9049:Or14j6	UTSW	17	38,214,764 (GRCm39)	nonsense	probably null
X0021:Or14j6	UTSW	17	38,214,647 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTATGACCGCTATGTGGC -3'
(R):5'- GCACAAATGCCTGTTGAGAG -3'

Sequencing Primer
(F):5'- ATGACCGCTATGTGGCCATCTG -3'
(R):5'- GAGAAGACCTTAGATCGGCCTTC -3'

Posted On

2022-04-18