Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Or4f14'

254829

Institutional Source

Beutler Lab

Gene Symbol

Or4f14

Ensembl Gene

ENSMUSG00000096566

Gene Name

olfactory receptor family 4 subfamily F member 14

Synonyms

Olfr1306, GA_x6K02T2Q125-72954873-72953935, MOR245-15

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111742335-111743273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111743064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 70 (D70E)

Ref Sequence

ENSEMBL: ENSMUSP00000151142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099607] [ENSMUST00000214844]

AlphaFold

A2BFL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099607
AA Change: D70E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097202
Gene: ENSMUSG00000096566
AA Change: D70E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	4.7e-43	PFAM
Pfam:7tm_1	41	287	9.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214844
AA Change: D70E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,663,853 (GRCm39)	V810A	probably damaging	Het
B3gnt6	T	C	7: 97,842,800 (GRCm39)	N387D	probably benign	Het
Col5a2	C	G	1: 45,452,656 (GRCm39)	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,588,468 (GRCm39)	K209R	probably damaging	Het
Dmkn	A	G	7: 30,464,741 (GRCm39)	N32S	unknown	Het
Dusp13b	T	A	14: 21,790,205 (GRCm39)	N47I	probably damaging	Het
Elmo2	A	G	2: 165,139,573 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,172 (GRCm39)	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,482,734 (GRCm39)	N197K	probably benign	Het
Gdnf	T	A	15: 7,845,130 (GRCm39)	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,582,083 (GRCm39)	I59V	possibly damaging	Het
Gprin2	C	T	14: 33,917,038 (GRCm39)	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,482,781 (GRCm39)		probably benign	Het
Ice2	A	G	9: 69,318,122 (GRCm39)	D241G	probably benign	Het
Mios	C	T	6: 8,214,935 (GRCm39)	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,320,636 (GRCm39)		noncoding transcript	Het
Nyap2	C	T	1: 81,065,188 (GRCm39)	R67*	probably null	Het
Or4d6	G	A	19: 12,085,989 (GRCm39)	P81L	probably benign	Het
Or5m8	T	A	2: 85,822,389 (GRCm39)	V76E	probably damaging	Het
Or5t9	T	C	2: 86,659,570 (GRCm39)	I158T	probably benign	Het
Or8g19	G	T	9: 39,055,762 (GRCm39)	R122L	possibly damaging	Het
Otop2	G	A	11: 115,219,972 (GRCm39)	A271T	probably benign	Het
Otulin	A	G	15: 27,619,716 (GRCm39)		probably benign	Het
Pax1	A	G	2: 147,210,348 (GRCm39)	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,570,693 (GRCm39)	N613I	probably damaging	Het
Plekha5	A	G	6: 140,534,925 (GRCm39)	K173E	probably damaging	Het
Plin4	T	A	17: 56,411,389 (GRCm39)	T881S	probably damaging	Het
Poli	A	G	18: 70,655,771 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,240,077 (GRCm39)	F898I	probably damaging	Het
Prr14l	A	T	5: 32,987,112 (GRCm39)	H794Q	probably benign	Het
Prss1	A	T	6: 41,439,545 (GRCm39)	I93F	probably benign	Het
Ptpro	C	T	6: 137,391,239 (GRCm39)		probably benign	Het
Rad1	T	C	15: 10,486,728 (GRCm39)	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769 (GRCm39)	E197G	probably benign	Het
Setx	A	G	2: 29,062,336 (GRCm39)	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Six2	A	G	17: 85,992,616 (GRCm39)	S296P	probably damaging	Het
Smg1	T	A	7: 117,810,102 (GRCm39)		probably benign	Het
Spred2	T	C	11: 19,948,215 (GRCm39)	V41A	probably damaging	Het
Ssu2	A	T	6: 112,354,566 (GRCm39)	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,040,563 (GRCm39)	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,006,895 (GRCm39)	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,755,692 (GRCm39)	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wac	A	C	18: 7,926,131 (GRCm39)	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,302,014 (GRCm39)	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,275,332 (GRCm39)	E96G	unknown	Het
Zzef1	G	A	11: 72,801,152 (GRCm39)		probably null	Het

Other mutations in Or4f14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Or4f14	APN	2	111,742,381 (GRCm39)	missense	possibly damaging	0.95
IGL01310:Or4f14	APN	2	111,742,652 (GRCm39)	missense	probably benign	0.34
IGL01893:Or4f14	APN	2	111,742,589 (GRCm39)	missense	possibly damaging	0.65
IGL02433:Or4f14	APN	2	111,742,762 (GRCm39)	missense	probably damaging	1.00
IGL03302:Or4f14	APN	2	111,743,167 (GRCm39)	missense	possibly damaging	0.61
R0544:Or4f14	UTSW	2	111,742,905 (GRCm39)	nonsense	probably null
R0674:Or4f14	UTSW	2	111,743,018 (GRCm39)	missense	probably benign	0.41
R1118:Or4f14	UTSW	2	111,743,222 (GRCm39)	missense	probably benign	0.02
R1764:Or4f14	UTSW	2	111,742,526 (GRCm39)	missense	possibly damaging	0.93
R3976:Or4f14	UTSW	2	111,742,951 (GRCm39)	missense	possibly damaging	0.84
R4855:Or4f14	UTSW	2	111,742,444 (GRCm39)	missense	probably benign	0.41
R6475:Or4f14	UTSW	2	111,743,204 (GRCm39)	nonsense	probably null
R6513:Or4f14	UTSW	2	111,743,228 (GRCm39)	missense	possibly damaging	0.89
R6536:Or4f14	UTSW	2	111,743,119 (GRCm39)	missense	possibly damaging	0.94
R6748:Or4f14	UTSW	2	111,742,702 (GRCm39)	missense	possibly damaging	0.47
R6843:Or4f14	UTSW	2	111,743,260 (GRCm39)	missense	probably damaging	1.00
R7006:Or4f14	UTSW	2	111,742,601 (GRCm39)	missense	probably benign	0.16
R7169:Or4f14	UTSW	2	111,742,939 (GRCm39)	missense	possibly damaging	0.95
R7230:Or4f14	UTSW	2	111,742,906 (GRCm39)	missense	probably damaging	1.00
R7419:Or4f14	UTSW	2	111,742,435 (GRCm39)	missense	probably damaging	1.00
R7448:Or4f14	UTSW	2	111,742,637 (GRCm39)	missense	probably benign	0.00
R7753:Or4f14	UTSW	2	111,742,927 (GRCm39)	missense	probably benign	0.06
R7761:Or4f14	UTSW	2	111,743,222 (GRCm39)	missense	probably benign	0.02
R8330:Or4f14	UTSW	2	111,742,724 (GRCm39)	missense	probably benign	0.00
R8497:Or4f14	UTSW	2	111,742,964 (GRCm39)	missense	possibly damaging	0.82
R8942:Or4f14	UTSW	2	111,743,207 (GRCm39)	missense	probably benign	0.05
R9603:Or4f14	UTSW	2	111,743,128 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AACAAGATGCACATCCTCGGG -3'
(R):5'- AGTTTGTGTTCCTGGGACTCAC -3'

Sequencing Primer
(F):5'- ATCCTCGGGCTCATAATGGTCAG -3'
(R):5'- TGGGACTCACCAACTCCTG -3'

Posted On

2014-12-29