Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Or5b116'

594822

Institutional Source

Beutler Lab

Gene Symbol

Or5b116

Ensembl Gene

ENSMUSG00000096320

Gene Name

olfactory receptor family 5 subfamily B member 116

Synonyms

GA_x6K02T2RE5P-3777626-3778570, Olfr1471, MOR202-47_p, MOR202-38

MMRRC Submission

045772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13422378-13423322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13423252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 292 (N292I)

Ref Sequence

ENSEMBL: ENSMUSP00000149948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096203] [ENSMUST00000217249] [ENSMUST00000217482]

AlphaFold

F6QVZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000096203
AA Change: N292I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: N292I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.1e-8	PFAM
Pfam:7tm_1	39	288	4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217249
AA Change: N292I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217482
AA Change: N292I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,587 (GRCm39)		probably null	Het
Agrn	C	A	4: 156,279,854 (GRCm39)	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,192,352 (GRCm39)	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,775,533 (GRCm39)	T135M	probably damaging	Het
Bach1	C	A	16: 87,515,736 (GRCm39)	Y92*	probably null	Het
Catsperg1	A	C	7: 28,884,907 (GRCm39)	C905G	probably null	Het
Cbr2	T	C	11: 120,620,628 (GRCm39)	I219V	probably benign	Het
Ccdc3	A	T	2: 5,233,908 (GRCm39)	K244I	probably damaging	Het
Cd226	T	C	18: 89,265,433 (GRCm39)	V237A	probably damaging	Het
Chek2	T	C	5: 110,989,319 (GRCm39)	C81R	probably benign	Het
Col27a1	T	C	4: 63,242,723 (GRCm39)		probably null	Het
Cracdl	T	A	1: 37,663,858 (GRCm39)	Q680L	probably benign	Het
Crybg3	A	T	16: 59,379,236 (GRCm39)	S673T	probably benign	Het
Csmd2	T	A	4: 128,276,743 (GRCm39)	Y848*	probably null	Het
Dgkb	C	A	12: 38,680,592 (GRCm39)	T764K	probably damaging	Het
Dock4	T	A	12: 40,775,648 (GRCm39)	C530*	probably null	Het
Dpyd	A	G	3: 118,597,780 (GRCm39)	K254R	probably benign	Het
Dstyk	C	T	1: 132,384,614 (GRCm39)	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,585,140 (GRCm39)	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,440,558 (GRCm39)	L597R	probably damaging	Het
Fignl1	T	C	11: 11,752,842 (GRCm39)	E71G	probably damaging	Het
Fnip2	A	C	3: 79,425,421 (GRCm39)	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,431,349 (GRCm39)	I377N	probably damaging	Het
Gcn1	C	T	5: 115,733,359 (GRCm39)	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Grik2	A	C	10: 49,295,792 (GRCm39)	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,236,606 (GRCm39)	L228P	probably damaging	Het
Iws1	A	T	18: 32,223,568 (GRCm39)	M659L	probably benign	Het
Kmt2c	A	G	5: 25,580,364 (GRCm39)	C570R	probably benign	Het
Lamc3	T	A	2: 31,812,279 (GRCm39)		probably null	Het
Lipf	G	A	19: 33,943,048 (GRCm39)	G119R	probably damaging	Het
Lrrc37	T	C	11: 103,507,719 (GRCm39)	I1416M	unknown	Het
Magel2	A	T	7: 62,028,130 (GRCm39)	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360 (GRCm39)	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,001,007 (GRCm39)	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 35,083,872 (GRCm39)	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,549,519 (GRCm39)	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,364,493 (GRCm39)	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,425,472 (GRCm39)	N280K	probably damaging	Het
Or10aa1	G	A	1: 173,869,900 (GRCm39)	R128H	probably benign	Het
Otof	A	G	5: 30,527,597 (GRCm39)	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,189,102 (GRCm39)	A481T	probably benign	Het
Parm1	C	T	5: 91,741,791 (GRCm39)	T53I	possibly damaging	Het
Pilra	C	T	5: 137,833,679 (GRCm39)	R129Q	probably benign	Het
Pkd1	C	T	17: 24,769,250 (GRCm39)	A5V	unknown	Het
Pmch	T	C	10: 87,927,242 (GRCm39)	S82P	probably benign	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,292,276 (GRCm39)	S180G	probably benign	Het
Rassf8	A	C	6: 145,760,973 (GRCm39)	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,844,890 (GRCm39)	E394G	probably damaging	Het
Rufy2	T	A	10: 62,838,772 (GRCm39)	V418E	probably benign	Het
Sdad1	A	T	5: 92,450,538 (GRCm39)	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,063,761 (GRCm39)	S2227T	probably benign	Het
Tac4	A	G	11: 95,156,116 (GRCm39)	M66V	probably benign	Het
Tas2r126	T	C	6: 42,412,031 (GRCm39)	V188A	probably benign	Het
Tcerg1	T	C	18: 42,694,000 (GRCm39)	V707A	possibly damaging	Het
Tmem273	A	G	14: 32,527,129 (GRCm39)	E32G	possibly damaging	Het
Trav13d-4	G	A	14: 53,995,355 (GRCm39)	G103D	probably damaging	Het
Trav8d-1	A	G	14: 53,016,380 (GRCm39)	S89G	probably benign	Het
Ttll4	C	T	1: 74,718,572 (GRCm39)	S141L	probably benign	Het
Vash1	T	C	12: 86,738,614 (GRCm39)	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,911,116 (GRCm39)	I726F		Het
Vmn2r53	A	C	7: 12,340,418 (GRCm39)	N18K	probably damaging	Het
Wnt6	T	C	1: 74,823,422 (GRCm39)	F253S	probably damaging	Het
Zfp599	A	G	9: 22,161,811 (GRCm39)	I118T	probably benign	Het

Other mutations in Or5b116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Or5b116	APN	19	13,422,988 (GRCm39)	missense	probably benign	0.00
IGL01790:Or5b116	APN	19	13,422,526 (GRCm39)	missense	probably damaging	1.00
IGL02515:Or5b116	APN	19	13,422,472 (GRCm39)	missense	probably damaging	1.00
IGL02838:Or5b116	APN	19	13,423,299 (GRCm39)	missense	probably benign
IGL03182:Or5b116	APN	19	13,422,807 (GRCm39)	missense	possibly damaging	0.93
R0267:Or5b116	UTSW	19	13,422,792 (GRCm39)	missense	probably damaging	0.99
R0524:Or5b116	UTSW	19	13,423,228 (GRCm39)	missense	probably damaging	1.00
R1584:Or5b116	UTSW	19	13,423,023 (GRCm39)	missense	probably damaging	1.00
R2253:Or5b116	UTSW	19	13,422,549 (GRCm39)	missense	probably damaging	1.00
R5267:Or5b116	UTSW	19	13,422,475 (GRCm39)	missense	probably damaging	1.00
R6419:Or5b116	UTSW	19	13,423,131 (GRCm39)	missense	probably benign	0.00
R6495:Or5b116	UTSW	19	13,422,989 (GRCm39)	missense	probably benign	0.43
R7830:Or5b116	UTSW	19	13,422,985 (GRCm39)	missense	probably benign	0.33
R7882:Or5b116	UTSW	19	13,422,951 (GRCm39)	missense	probably benign	0.02
R7892:Or5b116	UTSW	19	13,422,662 (GRCm39)	nonsense	probably null
Z1088:Or5b116	UTSW	19	13,423,213 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAGGCATTCTCTACCTGTGC -3'
(R):5'- ATTGCTTGGGAATTTTGAGCAC -3'

Sequencing Primer
(F):5'- AAGGCATTCTCTACCTGTGCATCTC -3'
(R):5'- GCTTGGGAATTTTGAGCACTATAATC -3'

Posted On

2019-11-12