Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Or4f14b'

344307

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

041811-MU

Accession Numbers

Essential gene?

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

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111774861-111775799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111774997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000097201 (fasta)

Gene Model

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

AlphaFold

Q7TQX1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099604
AA Change: D268G

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: D268G

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

possibly damaging
Transcript: ENSMUST00000099606
AA Change: D268G

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097201
Gene: ENSMUSG00000094747
AA Change: D268G

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm39)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Drd2	T	A	9: 49,316,089 (GRCm39)	M283K	probably benign	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Glul	G	A	1: 153,778,796 (GRCm39)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,550,441 (GRCm39)	F9I	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,743,380 (GRCm39)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	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
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
R6328:Or4f14b	UTSW	2	111,775,739 (GRCm39)	missense	probably null	0.41
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'- ATTGTTCCTGCCTGAGTAGATG -3'
(R):5'- ACAGTGGGTTCATCTCTGTG -3'

Sequencing Primer
(F):5'- GCAAATGTTTTTCAGGTTGATGAAC -3'
(R):5'- GTGGGTTCCTTCTTCATACTGATC -3'

Posted On

2015-09-25