Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Or14j4'

236179

Institutional Source

Beutler Lab

Gene Symbol

Or14j4

Ensembl Gene

ENSMUSG00000092413

Gene Name

olfactory receptor family 14 subfamily J member 4

Synonyms

GA_x6K02T2PSCP-2070203-2069271, MOR218-11P, Olfr115

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37920676-37921670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37921362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 93 (E93D)

Ref Sequence

ENSEMBL: ENSMUSP00000152714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076936] [ENSMUST00000221552] [ENSMUST00000223366]

AlphaFold

Q7TRJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000076936
AA Change: E95D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: E95D

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

SMART Domains

Protein: ENSMUSP00000133907
Gene: ENSMUSG00000092413
AA Change: E93D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.2e-46	PFAM
Pfam:7TM_GPCR_Srx	32	307	2.9e-9	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.4e-8	PFAM
Pfam:7tm_1	41	290	5.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194511
AA Change: E95D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207850

Predicted Effect

probably benign
Transcript: ENSMUST00000221552
AA Change: E93D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223366
AA Change: E93D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
Adgrf1	A	C	17: 43,611,693 (GRCm39)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,665,378 (GRCm39)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Alppl2	A	G	1: 87,015,419 (GRCm39)	S381P	probably benign	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,779,302 (GRCm39)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,826,995 (GRCm39)		noncoding transcript	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,947,809 (GRCm39)	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,764,389 (GRCm39)	D1341G	probably damaging	Het
Cfap300	T	C	9: 8,022,478 (GRCm39)	D248G	probably damaging	Het
Cir1	A	T	2: 73,142,781 (GRCm39)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,164,750 (GRCm39)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,919,716 (GRCm39)	V20D	possibly damaging	Het
Dars1	T	A	1: 128,299,899 (GRCm39)	M362L	probably benign	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Dnah11	T	C	12: 117,972,545 (GRCm39)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 180,790,535 (GRCm39)	E374K	probably benign	Het
Eif3a	A	T	19: 60,763,832 (GRCm39)		probably benign	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Exoc8	C	T	8: 125,624,154 (GRCm39)	R71Q	possibly damaging	Het
Far1	G	A	7: 113,165,667 (GRCm39)	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,185,730 (GRCm39)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,425,393 (GRCm39)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,838,540 (GRCm39)	P276H	unknown	Het
Fpr3	T	A	17: 18,190,879 (GRCm39)	V50E	probably damaging	Het
Garem1	T	A	18: 21,262,431 (GRCm39)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm4787	A	G	12: 81,425,336 (GRCm39)	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,026,193 (GRCm39)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 95,901,549 (GRCm39)	503	probably null	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ints13	A	G	6: 146,477,929 (GRCm39)	S7P	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,364,288 (GRCm39)	L988R	probably damaging	Het
Kcnq3	C	A	15: 65,877,827 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Lama2	A	T	10: 26,930,690 (GRCm39)		probably null	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,701,771 (GRCm39)	E350K	probably damaging	Het
Lrrk1	A	T	7: 65,980,498 (GRCm39)	D227E	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Madd	A	G	2: 90,982,854 (GRCm39)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,883,334 (GRCm39)	V295A	probably benign	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,717,059 (GRCm39)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,462,043 (GRCm39)	Y313C	probably damaging	Het
Myot	A	T	18: 44,487,192 (GRCm39)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,467,772 (GRCm39)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,674,253 (GRCm39)	D877E	probably damaging	Het
Nle1	A	G	11: 82,796,394 (GRCm39)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Nostrin	A	C	2: 68,996,347 (GRCm39)	Y209S	probably damaging	Het
Or1e19	A	T	11: 73,316,707 (GRCm39)	M34K	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or5d40	A	T	2: 88,015,439 (GRCm39)	S73C	probably benign	Het
Or8h9	A	T	2: 86,789,625 (GRCm39)	M59K	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Pcdh7	T	A	5: 58,286,338 (GRCm39)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 91,933,874 (GRCm39)	V173G	probably benign	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,040,765 (GRCm39)	D1787G	probably benign	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,653,908 (GRCm39)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,118,430 (GRCm39)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,887,800 (GRCm39)	F120S	probably benign	Het
Rab7b	T	A	1: 131,626,157 (GRCm39)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,575,493 (GRCm39)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,705,493 (GRCm39)	V807A	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,759,487 (GRCm39)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,392,408 (GRCm39)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,875,481 (GRCm39)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tasor	C	T	14: 27,201,992 (GRCm39)	T1462I	probably damaging	Het
Tiam1	A	G	16: 89,646,533 (GRCm39)		probably benign	Het
Tiparp	C	A	3: 65,436,673 (GRCm39)		probably benign	Het
Tmem39b	T	C	4: 129,572,481 (GRCm39)	T374A	probably benign	Het
Trim5	G	A	7: 103,925,998 (GRCm39)	R188*	probably null	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,038,196 (GRCm39)	E590D	probably benign	Het
Wwc1	A	G	11: 35,761,355 (GRCm39)	F650S	probably benign	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp1005	A	T	2: 150,111,281 (GRCm39)	H657L	probably benign	Het

Other mutations in Or14j4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Or14j4	APN	17	37,934,552 (GRCm39)	intron	probably benign
R1132:Or14j4	UTSW	17	37,921,333 (GRCm39)	missense	possibly damaging	0.90
R1829:Or14j4	UTSW	17	37,921,168 (GRCm39)	missense	probably benign	0.04
R1831:Or14j4	UTSW	17	37,920,730 (GRCm39)	missense	possibly damaging	0.92
R1872:Or14j4	UTSW	17	37,920,803 (GRCm39)	missense	probably damaging	1.00
R2142:Or14j4	UTSW	17	37,921,362 (GRCm39)	missense	probably benign
R3079:Or14j4	UTSW	17	37,921,169 (GRCm39)	missense	probably benign	0.07
R3080:Or14j4	UTSW	17	37,921,169 (GRCm39)	missense	probably benign	0.07
R5250:Or14j4	UTSW	17	37,920,851 (GRCm39)	missense	probably damaging	0.99
R5539:Or14j4	UTSW	17	37,921,646 (GRCm39)	start codon destroyed	probably benign	0.00
R5586:Or14j4	UTSW	17	37,921,145 (GRCm39)	missense	probably damaging	1.00
R5921:Or14j4	UTSW	17	37,921,110 (GRCm39)	nonsense	probably null
R6469:Or14j4	UTSW	17	37,921,204 (GRCm39)	missense	probably damaging	1.00
R6473:Or14j4	UTSW	17	37,920,887 (GRCm39)	missense	possibly damaging	0.46
R6754:Or14j4	UTSW	17	37,921,046 (GRCm39)	missense	probably benign
R7457:Or14j4	UTSW	17	37,921,456 (GRCm39)	missense	possibly damaging	0.60
R7736:Or14j4	UTSW	17	37,921,303 (GRCm39)	missense	probably damaging	1.00
R7814:Or14j4	UTSW	17	37,921,547 (GRCm39)	missense	probably benign	0.04
R8560:Or14j4	UTSW	17	37,920,949 (GRCm39)	missense	possibly damaging	0.82
R9243:Or14j4	UTSW	17	37,921,408 (GRCm39)	missense	probably benign	0.01
R9308:Or14j4	UTSW	17	37,921,246 (GRCm39)	missense	possibly damaging	0.73
R9479:Or14j4	UTSW	17	37,920,718 (GRCm39)	missense	probably damaging	1.00
Z1177:Or14j4	UTSW	17	37,920,944 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGACACCTCCACTTAGCC -3'
(R):5'- GAGCTGCAGATCTTACAGGC -3'

Sequencing Primer
(F):5'- TTAGCCACACAGCTGCC -3'
(R):5'- TGACATACCTAGTCGGCTCAG -3'

Posted On

2014-10-01