Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Or4f4b'

190834

Institutional Source

Beutler Lab

Gene Symbol

Or4f4b

Ensembl Gene

ENSMUSG00000061195

Gene Name

olfactory receptor family 4 subfamily F member 4B

Synonyms

MOR245-6, GA_x6K02T2Q125-72534883-72535821, Olfr1289

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111313777-111314673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111314008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 78 (I78F)

Ref Sequence

ENSEMBL: ENSMUSP00000147119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]

AlphaFold

A0A288CFY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102551
AA Change: I78F

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

SMART Domains

Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: I78F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	17	289	6e-45	PFAM
Pfam:7TM_GPCR_Srsx	20	288	1.4e-7	PFAM
Pfam:7tm_1	27	273	7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104889

SMART Domains

Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-43	PFAM
Pfam:7tm_1	41	287	2.5e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120021
AA Change: I106F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207494
AA Change: I78F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214816

Predicted Effect

probably benign
Transcript: ENSMUST00000217611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225425

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	probably damaging	Het

Other mutations in Or4f4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Or4f4b	APN	2	111,314,446 (GRCm39)	missense	probably damaging	1.00
IGL01682:Or4f4b	APN	2	111,314,188 (GRCm39)	missense	probably damaging	1.00
IGL02028:Or4f4b	APN	2	111,313,816 (GRCm39)	missense	probably benign	0.01
IGL02731:Or4f4b	APN	2	111,313,873 (GRCm39)	missense	probably benign	0.00
IGL03035:Or4f4b	APN	2	111,314,168 (GRCm39)	missense	probably benign	0.04
R1214:Or4f4b	UTSW	2	111,314,237 (GRCm39)	missense	probably damaging	1.00
R1471:Or4f4b	UTSW	2	111,314,351 (GRCm39)	missense	probably damaging	1.00
R2088:Or4f4b	UTSW	2	111,314,623 (GRCm39)	missense	probably damaging	1.00
R2136:Or4f4b	UTSW	2	111,313,961 (GRCm39)	missense	probably damaging	1.00
R2141:Or4f4b	UTSW	2	111,313,975 (GRCm39)	missense	probably benign	0.23
R3945:Or4f4b	UTSW	2	111,314,032 (GRCm39)	nonsense	probably null
R4276:Or4f4b	UTSW	2	111,313,849 (GRCm39)	missense	probably damaging	1.00
R4562:Or4f4b	UTSW	2	111,313,909 (GRCm39)	missense	probably benign	0.00
R4896:Or4f4b	UTSW	2	111,314,005 (GRCm39)	missense	possibly damaging	0.82
R4946:Or4f4b	UTSW	2	111,314,311 (GRCm39)	missense	possibly damaging	0.93
R5004:Or4f4b	UTSW	2	111,314,005 (GRCm39)	missense	possibly damaging	0.82
R5686:Or4f4b	UTSW	2	111,314,488 (GRCm39)	missense	probably damaging	1.00
R6032:Or4f4b	UTSW	2	111,314,195 (GRCm39)	missense	probably damaging	1.00
R6032:Or4f4b	UTSW	2	111,314,195 (GRCm39)	missense	probably damaging	1.00
R6960:Or4f4b	UTSW	2	111,314,071 (GRCm39)	missense	possibly damaging	0.70
R7293:Or4f4b	UTSW	2	111,313,699 (GRCm39)	splice site	probably null
R7642:Or4f4b	UTSW	2	111,313,823 (GRCm39)	missense	probably damaging	0.96
R8429:Or4f4b	UTSW	2	111,313,840 (GRCm39)	missense	possibly damaging	0.55
R8447:Or4f4b	UTSW	2	111,314,101 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTCCAAGGCAAGTGCAGAGAC -3'
(R):5'- TGCCCATGCAGTAGCCACAATG -3'

Sequencing Primer
(F):5'- CAAGTGCAGAGACTCTCTTCTGG -3'
(R):5'- TGCAGTAGCCACAATGCTAAC -3'

Posted On

2014-05-14