Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Or9g4b'

85717

Institutional Source

Beutler Lab

Gene Symbol

Or9g4b

Ensembl Gene

ENSMUSG00000033850

Gene Name

olfactory receptor family 9 subfamily G member 4B

Synonyms

GA_x6K02T2Q125-47264151-47265089, Olfr1015, MOR213-3

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85615818-85616833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85616437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000148957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047870] [ENSMUST00000215945]

AlphaFold

Q7TR94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047870
AA Change: V194A

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046301
Gene: ENSMUSG00000033850
AA Change: V194A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.5e-49	PFAM
Pfam:7tm_1	41	290	4.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215945
AA Change: V194A

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.2694

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,637,023 (GRCm39)	T485M	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hfm1	A	T	5: 107,026,696 (GRCm39)	F140I	probably damaging	Het
Hyal2	T	A	9: 107,449,445 (GRCm39)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,077,088 (GRCm39)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Soat2	T	A	15: 102,061,573 (GRCm39)		probably null	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (GRCm39)		probably null	Het

Other mutations in Or9g4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Or9g4b	APN	2	85,616,461 (GRCm39)	missense	probably benign	0.21
IGL01716:Or9g4b	APN	2	85,616,487 (GRCm39)	missense	probably damaging	0.97
IGL03196:Or9g4b	APN	2	85,616,365 (GRCm39)	missense	possibly damaging	0.63
IGL03374:Or9g4b	APN	2	85,616,053 (GRCm39)	missense	probably damaging	1.00
R0329:Or9g4b	UTSW	2	85,616,147 (GRCm39)	nonsense	probably null
R0330:Or9g4b	UTSW	2	85,616,147 (GRCm39)	nonsense	probably null
R0714:Or9g4b	UTSW	2	85,616,743 (GRCm39)	missense	probably damaging	1.00
R0965:Or9g4b	UTSW	2	85,616,643 (GRCm39)	missense	probably damaging	1.00
R3826:Or9g4b	UTSW	2	85,616,559 (GRCm39)	nonsense	probably null
R5031:Or9g4b	UTSW	2	85,616,062 (GRCm39)	nonsense	probably null
R5239:Or9g4b	UTSW	2	85,616,002 (GRCm39)	missense	probably damaging	1.00
R6120:Or9g4b	UTSW	2	85,616,685 (GRCm39)	missense	probably damaging	1.00
R6177:Or9g4b	UTSW	2	85,616,004 (GRCm39)	missense	probably damaging	0.99
R6726:Or9g4b	UTSW	2	85,615,906 (GRCm39)	missense	possibly damaging	0.51
R6954:Or9g4b	UTSW	2	85,616,726 (GRCm39)	nonsense	probably null
R7766:Or9g4b	UTSW	2	85,616,002 (GRCm39)	missense	probably damaging	1.00
R8193:Or9g4b	UTSW	2	85,616,305 (GRCm39)	missense	probably benign	0.34
R8245:Or9g4b	UTSW	2	85,616,119 (GRCm39)	missense	probably benign	0.02
R8339:Or9g4b	UTSW	2	85,615,876 (GRCm39)	missense	probably damaging	0.98
R9272:Or9g4b	UTSW	2	85,616,088 (GRCm39)	missense	probably benign	0.09
Z1176:Or9g4b	UTSW	2	85,616,464 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGCCCATTGCTCTATTCAAGCATC -3'
(R):5'- TGTCTATAAGCGAGTTTTGAACAGCCC -3'

Sequencing Primer
(F):5'- ATTGCTCTATTCAAGCATCATGTC -3'
(R):5'- CTCTCCAGGGAGTAGTTGGAAC -3'

Posted On

2013-11-18