Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Or14j1'

189608

Institutional Source

Beutler Lab

Gene Symbol

Or14j1

Ensembl Gene

ENSMUSG00000050613

Gene Name

olfactory receptor family 14 subfamily J member 1

Synonyms

Olfr125, MOR218-8, GA_x6K02T2PSCP-2291580-2292542

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38145802-38146919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38146495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 202 (S202P)

Ref Sequence

ENSEMBL: ENSMUSP00000149602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050255] [ENSMUST00000213857]

AlphaFold

Q14AJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050255
AA Change: S202P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055221
Gene: ENSMUSG00000050613
AA Change: S202P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.7e-47	PFAM
Pfam:7tm_1	38	318	7.6e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174655

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213857
AA Change: S202P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,769,827 (GRCm39)	K896R	probably benign	Het
Adcy9	A	T	16: 4,115,426 (GRCm39)		probably null	Het
Adgre1	T	C	17: 57,756,921 (GRCm39)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,595,948 (GRCm39)	S148T	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,913,741 (GRCm39)	A289D	probably benign	Het
Amotl1	T	C	9: 14,504,518 (GRCm39)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,682,187 (GRCm39)	S65R	probably benign	Het
Atad2b	T	A	12: 5,084,575 (GRCm39)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,869,276 (GRCm39)	D164E	probably damaging	Het
B4galt6	C	T	18: 20,839,553 (GRCm39)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,113,167 (GRCm39)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,114,406 (GRCm39)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,600,182 (GRCm39)	Y228*	probably null	Het
Cav2	A	G	6: 17,281,421 (GRCm39)	H21R	probably benign	Het
Celsr2	T	A	3: 108,314,620 (GRCm39)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,079,699 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,470 (GRCm39)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,855,984 (GRCm39)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,797,194 (GRCm39)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,713,915 (GRCm39)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,324,475 (GRCm39)	K373*	probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,750,862 (GRCm39)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,215,682 (GRCm39)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,394,138 (GRCm39)	E191G	probably benign	Het
Fgd2	A	G	17: 29,582,696 (GRCm39)	E26G	probably benign	Het
Gabra4	T	C	5: 71,790,885 (GRCm39)		probably null	Het
Gc	A	G	5: 89,589,059 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,439,506 (GRCm39)	D1361E	probably benign	Het
Hid1	A	G	11: 115,251,183 (GRCm39)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,146,504 (GRCm39)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,313,744 (GRCm39)	V4A	probably benign	Het
Irak3	T	C	10: 119,982,457 (GRCm39)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,134,555 (GRCm39)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,595,567 (GRCm39)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 43,869,969 (GRCm39)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,131,527 (GRCm39)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,333,873 (GRCm39)	T1456K	probably benign	Het
Mrgprd	C	A	7: 144,875,454 (GRCm39)	Y108*	probably null	Het
Muc6	C	T	7: 141,234,265 (GRCm39)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,522,666 (GRCm39)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,280,231 (GRCm39)	Y126C	probably damaging	Het
Or1ak2	A	G	2: 36,827,989 (GRCm39)	N286S	probably damaging	Het
Or7d11	A	T	9: 19,966,422 (GRCm39)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,322,643 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,784,968 (GRCm39)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,408,688 (GRCm39)	G176D	probably damaging	Het
Pramel17	T	A	4: 101,694,376 (GRCm39)	K169I	possibly damaging	Het
Ptpra	T	C	2: 130,345,412 (GRCm39)	F5L	probably benign	Het
Qrfprl	A	G	6: 65,358,591 (GRCm39)	N105S	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,552 (GRCm39)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Senp2	T	A	16: 21,845,416 (GRCm39)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,211,094 (GRCm39)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,500,277 (GRCm39)	T535I	probably benign	Het
Supt20	T	A	3: 54,619,583 (GRCm39)	L355*	probably null	Het
Tmem132b	A	G	5: 125,864,678 (GRCm39)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,148,245 (GRCm39)	L552H	probably damaging	Het
Tsfm	A	T	10: 126,864,324 (GRCm39)	N130K	probably damaging	Het
Usp48	T	A	4: 137,383,418 (GRCm39)		probably null	Het
Vsig10	A	G	5: 117,490,825 (GRCm39)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,114,792 (GRCm39)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,336,422 (GRCm39)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,576,111 (GRCm39)	D60V	probably damaging	Het

Other mutations in Or14j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Or14j1	APN	17	38,145,944 (GRCm39)	missense	probably benign
IGL02103:Or14j1	APN	17	38,146,169 (GRCm39)	missense	possibly damaging	0.91
IGL02121:Or14j1	APN	17	38,146,832 (GRCm39)	missense	probably benign	0.01
IGL02183:Or14j1	APN	17	38,146,304 (GRCm39)	missense	probably damaging	1.00
IGL02208:Or14j1	APN	17	38,146,415 (GRCm39)	missense	probably damaging	1.00
IGL02822:Or14j1	APN	17	38,146,534 (GRCm39)	missense	possibly damaging	0.95
IGL02833:Or14j1	APN	17	38,146,831 (GRCm39)	missense	probably benign	0.02
IGL03324:Or14j1	APN	17	38,146,165 (GRCm39)	missense	probably benign	0.23
R1719:Or14j1	UTSW	17	38,146,244 (GRCm39)	missense	possibly damaging	0.76
R1878:Or14j1	UTSW	17	38,146,253 (GRCm39)	missense	probably benign	0.03
R2064:Or14j1	UTSW	17	38,145,893 (GRCm39)	start codon destroyed	probably null	0.06
R2696:Or14j1	UTSW	17	38,145,998 (GRCm39)	missense	probably benign	0.00
R3800:Or14j1	UTSW	17	38,146,848 (GRCm39)	missense	probably benign
R4469:Or14j1	UTSW	17	38,146,607 (GRCm39)	missense	probably benign	0.35
R4801:Or14j1	UTSW	17	38,146,240 (GRCm39)	missense	probably damaging	1.00
R4802:Or14j1	UTSW	17	38,146,240 (GRCm39)	missense	probably damaging	1.00
R5473:Or14j1	UTSW	17	38,146,630 (GRCm39)	missense	probably benign	0.04
R6743:Or14j1	UTSW	17	38,146,694 (GRCm39)	missense	probably damaging	1.00
R7481:Or14j1	UTSW	17	38,146,289 (GRCm39)	missense	probably damaging	1.00
R8349:Or14j1	UTSW	17	38,146,561 (GRCm39)	missense	probably damaging	0.99
R8449:Or14j1	UTSW	17	38,146,561 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCTGCAAGTGTGCAGTGATAG -3'
(R):5'- GAGGTCCATTGCTGACAGGGAATC -3'

Sequencing Primer
(F):5'- AGCTGTATGGATGGCTGGAG -3'
(R):5'- CATTGCTGACAGGGAATCTGAAG -3'

Posted On

2014-05-14