Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Or4f14b'

510793

Institutional Source

Beutler Lab

Gene Symbol

Or4f14b

Ensembl Gene

ENSMUSG00000094747

Gene Name

olfactory receptor family 4 subfamily F member 14B

Synonyms

GA_x6K02T2Q125-72988111-72987173, MOR245-19P, Olfr1307

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111774861-111775799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111775739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 21 (W21R)

Ref Sequence

ENSEMBL: ENSMUSP00000097201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099604] [ENSMUST00000099606]

AlphaFold

Q7TQX1

Predicted Effect

probably benign
Transcript: ENSMUST00000099604
AA Change: W21R

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: W21R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	311	1.5e-36	PFAM
Pfam:7tm_1	49	295	6.5e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099606
AA Change: W21R

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097201
Gene: ENSMUSG00000094747
AA Change: W21R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	2.2e-42	PFAM
Pfam:7tm_1	41	287	6.7e-23	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	Het

Other mutations in Or4f14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Or4f14b	APN	2	111,774,863 (GRCm39)	makesense	probably null
IGL01947:Or4f14b	APN	2	111,775,339 (GRCm39)	missense	probably benign	0.26
IGL02373:Or4f14b	APN	2	111,775,178 (GRCm39)	missense	probably benign	0.01
IGL02682:Or4f14b	APN	2	111,775,285 (GRCm39)	missense	probably damaging	1.00
R0714:Or4f14b	UTSW	2	111,774,898 (GRCm39)	missense	probably benign	0.01
R1670:Or4f14b	UTSW	2	111,775,264 (GRCm39)	missense	probably damaging	1.00
R1730:Or4f14b	UTSW	2	111,775,633 (GRCm39)	missense	probably benign	0.45
R1733:Or4f14b	UTSW	2	111,775,625 (GRCm39)	missense	probably benign	0.13
R1773:Or4f14b	UTSW	2	111,775,204 (GRCm39)	missense	possibly damaging	0.55
R1783:Or4f14b	UTSW	2	111,775,633 (GRCm39)	missense	probably benign	0.45
R2180:Or4f14b	UTSW	2	111,775,348 (GRCm39)	missense	probably benign	0.39
R2197:Or4f14b	UTSW	2	111,775,658 (GRCm39)	missense	possibly damaging	0.64
R2207:Or4f14b	UTSW	2	111,775,270 (GRCm39)	missense	probably damaging	1.00
R2377:Or4f14b	UTSW	2	111,774,988 (GRCm39)	missense	probably damaging	1.00
R4425:Or4f14b	UTSW	2	111,775,534 (GRCm39)	missense	probably benign	0.00
R4595:Or4f14b	UTSW	2	111,774,997 (GRCm39)	missense	possibly damaging	0.86
R4859:Or4f14b	UTSW	2	111,775,156 (GRCm39)	missense	probably damaging	0.98
R4910:Or4f14b	UTSW	2	111,775,423 (GRCm39)	missense	possibly damaging	0.69
R5167:Or4f14b	UTSW	2	111,775,447 (GRCm39)	missense	probably damaging	1.00
R5537:Or4f14b	UTSW	2	111,775,393 (GRCm39)	missense	probably damaging	1.00
R6877:Or4f14b	UTSW	2	111,775,184 (GRCm39)	missense	probably benign	0.16
R7011:Or4f14b	UTSW	2	111,775,031 (GRCm39)	missense	probably benign	0.01
R7177:Or4f14b	UTSW	2	111,775,501 (GRCm39)	missense	probably damaging	1.00
R7937:Or4f14b	UTSW	2	111,774,875 (GRCm39)	missense	probably benign	0.00
R8792:Or4f14b	UTSW	2	111,775,073 (GRCm39)	missense	probably damaging	1.00
R9290:Or4f14b	UTSW	2	111,774,967 (GRCm39)	missense	possibly damaging	0.91
R9358:Or4f14b	UTSW	2	111,775,429 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GTAAAGGAGATGACTTTGTGCTTTC -3'
(R):5'- CTGATTACTAGTGATGCCCAGC -3'

Sequencing Primer
(F):5'- AGTCATAAAGCATCTTTGGAGAAG -3'
(R):5'- GCCCAGCACTCATTTATATATATGC -3'

Posted On

2018-04-02