Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Or14j4'

701120

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37920676-37921670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37921408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 78 (Q78R)

Ref Sequence

ENSEMBL: ENSMUSP00000152172 (fasta)

Gene Model

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

AlphaFold

Q7TRJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000076936
AA Change: Q80R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: Q80R

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

probably benign
Transcript: ENSMUST00000221552
AA Change: Q78R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000223366
AA Change: Q78R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Klrd1	T	G	6: 129,568,795 (GRCm39)	M1R	probably null	Het
Krtap16-1	A	T	11: 99,876,644 (GRCm39)	C253*	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Or8k40	A	G	2: 86,584,282 (GRCm39)	S267P	possibly damaging	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,781,961 (GRCm39)	E126G	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	probably damaging	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
R2140:Or14j4	UTSW	17	37,921,362 (GRCm39)	missense	probably benign
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
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'- GTGCACTTTCTGGGACTCATG -3'
(R):5'- ATGAGTGGATTCCTCCTCATGG -3'

Sequencing Primer
(F):5'- CTGGGACTCATGATGACCTCATAG -3'
(R):5'- ATGGGATTCTCTGACAACCG -3'

Posted On

2022-03-25