Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Or4f4b'

231564

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

040093-MU

Accession Numbers

Essential gene?

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

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111313777-111314673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111314623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 283 (A283S)

Ref Sequence

ENSEMBL: ENSMUSP00000147119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]

AlphaFold

A0A288CFY5

Predicted Effect

probably benign
Transcript: ENSMUST00000099616

SMART Domains

Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.5e-52	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102551
AA Change: A283S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: A283S

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: A311S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207494
AA Change: A283S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207707

Predicted Effect

probably benign
Transcript: ENSMUST00000214816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225425

Predicted Effect

probably benign
Transcript: ENSMUST00000217611

Meta Mutation Damage Score

0.6102

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif2d	T	C	1: 131,092,464 (GRCm39)	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,454,316 (GRCm39)	D228A	probably damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,538,121 (GRCm39)	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,719,744 (GRCm39)		probably benign	Het
Uhrf1	A	T	17: 56,625,089 (GRCm39)	K544M	probably damaging	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	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
R1714:Or4f4b	UTSW	2	111,314,008 (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'- TGACTGCTCATATCACAGTAGTTC -3'
(R):5'- CAGTTGTACTCAAATAGCACCG -3'

Sequencing Primer
(F):5'- TGCTCATATCACAGTAGTTCTTTTG -3'
(R):5'- GTCCTAAAATCTAGTGAAAAGGT -3'

Posted On

2014-09-18