Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Or4f14'

193252

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

039796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111742335-111743273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111742526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 250 (F250L)

Ref Sequence

ENSEMBL: ENSMUSP00000151142 (fasta)

Gene Model

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

AlphaFold

A2BFL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099607
AA Change: F250L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097202
Gene: ENSMUSG00000096566
AA Change: F250L

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

possibly damaging
Transcript: ENSMUST00000214844
AA Change: F250L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,655 (GRCm39)	V401A	probably benign	Het
Abca7	G	T	10: 79,844,784 (GRCm39)	W1502L	probably damaging	Het
Adcy7	A	G	8: 89,035,468 (GRCm39)	E124G	probably benign	Het
Aif1l	G	A	2: 31,855,118 (GRCm39)	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,271,392 (GRCm39)	M373L	probably benign	Het
Alg6	T	C	4: 99,629,815 (GRCm39)	Y131H	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arrdc4	A	T	7: 68,391,622 (GRCm39)	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,331,821 (GRCm39)	I305T	probably benign	Het
Atp5f1b	T	A	10: 127,919,949 (GRCm39)		probably benign	Het
Atp8a1	C	A	5: 67,788,910 (GRCm39)	M1044I	probably benign	Het
Atp9b	C	T	18: 80,952,806 (GRCm39)		probably null	Het
Brd10	T	A	19: 29,696,560 (GRCm39)	T978S	possibly damaging	Het
Btaf1	A	G	19: 36,928,518 (GRCm39)	H113R	probably benign	Het
C87436	G	T	6: 86,430,594 (GRCm39)	C338F	possibly damaging	Het
Casz1	T	C	4: 149,027,357 (GRCm39)		probably benign	Het
Cbr3	T	A	16: 93,487,370 (GRCm39)	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,722,097 (GRCm39)	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,521,174 (GRCm39)	K77R	probably benign	Het
Cdc34	G	T	10: 79,521,172 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,862,070 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,706,157 (GRCm39)	E880G	probably damaging	Het
Cers1	T	G	8: 70,774,141 (GRCm39)		probably null	Het
Cntn5	T	C	9: 9,673,988 (GRCm39)	I705V	probably benign	Het
Dennd4c	T	A	4: 86,721,247 (GRCm39)	D636E	probably damaging	Het
Dnah11	T	C	12: 118,154,560 (GRCm39)	E240G	probably benign	Het
Dnah2	T	C	11: 69,314,369 (GRCm39)	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,496,583 (GRCm39)	E151G	probably damaging	Het
Efcab9	T	G	11: 32,474,457 (GRCm39)	T9P	possibly damaging	Het
Eif4g2	A	T	7: 110,673,694 (GRCm39)	F725Y	probably damaging	Het
Epha6	T	A	16: 59,596,091 (GRCm39)	I867F	probably null	Het
Erbin	T	C	13: 103,979,959 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,253,560 (GRCm39)	E468G	probably damaging	Het
Filip1l	C	T	16: 57,390,401 (GRCm39)	R330W	probably damaging	Het
Fmo3	C	T	1: 162,786,142 (GRCm39)	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,510,481 (GRCm39)	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,520,770 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,158,362 (GRCm39)		noncoding transcript	Het
Gon4l	G	T	3: 88,799,906 (GRCm39)	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,085,980 (GRCm39)	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,445,893 (GRCm39)	R85C	probably benign	Het
Kalrn	C	T	16: 34,033,243 (GRCm39)	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,376 (GRCm39)	V117E	probably damaging	Het
Mapk11	A	G	15: 89,028,594 (GRCm39)		probably null	Het
Mcm3	G	A	1: 20,876,103 (GRCm39)	R664C	probably damaging	Het
Mex3d	A	G	10: 80,222,770 (GRCm39)	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,292,771 (GRCm39)	I260T	probably benign	Het
Ncor2	G	T	5: 125,105,679 (GRCm39)	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,638,189 (GRCm39)	D441E	probably damaging	Het
Nek5	A	T	8: 22,599,928 (GRCm39)	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,146,447 (GRCm39)	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,687,391 (GRCm39)	T681K	probably damaging	Het
Or13a24	T	C	7: 140,154,383 (GRCm39)	W106R	probably damaging	Het
Otogl	C	T	10: 107,735,322 (GRCm39)	W154*	probably null	Het
Pcdh20	T	C	14: 88,706,620 (GRCm39)	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,324 (GRCm39)	S705P	probably damaging	Het
Piezo2	T	C	18: 63,257,713 (GRCm39)	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,499,615 (GRCm39)	Q954R	probably damaging	Het
Pramel23	C	A	4: 143,424,840 (GRCm39)	C201F	probably benign	Het
Prkcq	G	A	2: 11,237,442 (GRCm39)	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,218,489 (GRCm39)		probably null	Het
Pttg1ip2	A	T	5: 5,528,943 (GRCm39)	I24N	possibly damaging	Het
Rb1cc1	A	G	1: 6,284,904 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,644,763 (GRCm39)	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,690,805 (GRCm39)	V1082L	probably damaging	Het
Scart2	A	G	7: 139,877,178 (GRCm39)	E831G	probably benign	Het
Sel1l3	C	A	5: 53,327,789 (GRCm39)	E497*	probably null	Het
Serpina6	A	T	12: 103,620,182 (GRCm39)	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,304,532 (GRCm39)	T166S	probably benign	Het
Skint7	T	C	4: 111,839,270 (GRCm39)	L188S	probably benign	Het
Slc25a45	C	T	19: 5,934,958 (GRCm39)	A269V	probably damaging	Het
Sltm	A	G	9: 70,469,082 (GRCm39)	T114A	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spen	C	A	4: 141,200,261 (GRCm39)	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,247,275 (GRCm39)	I445F	possibly damaging	Het
Stox2	A	T	8: 47,647,051 (GRCm39)	Y200*	probably null	Het
Strada	C	A	11: 106,055,010 (GRCm39)	R384L	probably damaging	Het
Tctn2	G	A	5: 124,757,094 (GRCm39)		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,299,282 (GRCm39)	R461L	probably benign	Het
Tmem65	A	G	15: 58,661,998 (GRCm39)		probably benign	Het
Tpst1	G	T	5: 130,143,343 (GRCm39)	V294F	possibly damaging	Het
Trim23	A	G	13: 104,335,126 (GRCm39)	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,542,678 (GRCm39)	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,183,916 (GRCm39)	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,050,067 (GRCm39)	C561S	probably damaging	Het
Vwa8	A	G	14: 79,145,635 (GRCm39)	D104G	probably damaging	Het
Wdr25	T	A	12: 108,992,364 (GRCm39)	L73*	probably null	Het
Wnt9a	G	A	11: 59,221,728 (GRCm39)	A209T	probably benign	Het
Zcchc17	A	C	4: 130,223,388 (GRCm39)	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,335,987 (GRCm39)	M375L	probably benign	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfp202	T	A	9: 40,121,762 (GRCm39)	D286E	probably benign	Het
Zzef1	T	C	11: 72,784,158 (GRCm39)	L2021P	probably benign	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
R2915:Or4f14	UTSW	2	111,743,064 (GRCm39)	missense	probably damaging	1.00
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'- AGGAAAGATTGTTCCTGCCTGAGTAGA -3'
(R):5'- CCTCGGTTTATCAAACTAGCCTGCAT -3'

Sequencing Primer
(F):5'- TGCCTGAGTAGATGAAAAAATATACC -3'
(R):5'- TAGCCTGCATAAATACTTACCAGC -3'

Posted On

2014-05-23