Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:Or5b120'

610697

Institutional Source

Beutler Lab

Gene Symbol

Or5b120

Ensembl Gene

ENSMUSG00000071629

Gene Name

olfactory receptor family 5 subfamily B member 120

Synonyms

Olfr1477, MOR202-10, GA_x6K02T2RE5P-3834960-3835907

MMRRC Submission

045961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13477910-13480656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13480571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 288 (V288E)

Ref Sequence

ENSEMBL: ENSMUSP00000149565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214274] [ENSMUST00000217001]

AlphaFold

Q7TQQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000214274
AA Change: V288E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217001
AA Change: V288E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 90,896,133 (GRCm39)	V324A	probably damaging	Het
Aqp8	T	A	7: 123,063,495 (GRCm39)	I115N	possibly damaging	Het
Atrn	G	A	2: 130,812,131 (GRCm39)	C692Y	probably damaging	Het
Card10	A	T	15: 78,665,303 (GRCm39)	S717T	possibly damaging	Het
Cep78	T	C	19: 15,947,941 (GRCm39)	S408G	probably benign	Het
Col24a1	G	T	3: 145,137,621 (GRCm39)	G895*	probably null	Het
Cs	A	T	10: 128,186,310 (GRCm39)	K34N	possibly damaging	Het
Dchs1	T	C	7: 105,408,435 (GRCm39)	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,187,192 (GRCm39)		probably null	Het
Dpy19l4	A	T	4: 11,265,859 (GRCm39)	Y696*	probably null	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Fgd2	G	T	17: 29,593,019 (GRCm39)	R423L	probably damaging	Het
Fmo4	T	C	1: 162,621,741 (GRCm39)	D490G	possibly damaging	Het
Gm5113	A	T	7: 29,877,648 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,291,654 (GRCm39)	W854R	probably damaging	Het
H2-M1	T	C	17: 36,981,129 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,309,842 (GRCm39)	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,833,645 (GRCm39)	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,153,134 (GRCm39)	V761G	probably benign	Het
Ifi203	T	C	1: 173,754,523 (GRCm39)	Y736C	probably damaging	Het
Mettl9	T	A	7: 120,675,524 (GRCm39)	L308Q	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Ncapd3	T	A	9: 26,959,522 (GRCm39)	C319*	probably null	Het
Ncs1	C	A	2: 31,177,296 (GRCm39)		probably null	Het
Nell1	T	A	7: 49,929,270 (GRCm39)	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,108,537 (GRCm39)	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 19,779,725 (GRCm39)	H796L	probably benign	Het
Nudt16l1	C	A	16: 4,757,245 (GRCm39)	Q53K	possibly damaging	Het
Nyap1	A	G	5: 137,733,231 (GRCm39)	S601P	probably damaging	Het
Odf2l	C	T	3: 144,859,244 (GRCm39)	Q634*	probably null	Het
Or10al2	A	T	17: 37,982,999 (GRCm39)	E28D	probably benign	Het
Or12e14	A	G	2: 87,677,037 (GRCm39)	I141V	probably benign	Het
Or1e22	A	G	11: 73,377,224 (GRCm39)	V142A	probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or5m10	T	A	2: 85,718,074 (GRCm39)	L310H	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pik3c2b	T	C	1: 133,017,799 (GRCm39)		probably null	Het
Pramel21	T	A	4: 143,341,615 (GRCm39)	Y15N	possibly damaging	Het
Prl3c1	A	G	13: 27,383,393 (GRCm39)	I40V	probably benign	Het
R3hdm4	C	T	10: 79,747,779 (GRCm39)	A229T	probably damaging	Het
Rab3gap2	T	C	1: 184,995,013 (GRCm39)	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,307,859 (GRCm39)	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,356,899 (GRCm39)	Y36H	probably benign	Het
Setd3	A	T	12: 108,073,924 (GRCm39)	V451D	probably benign	Het
Slc35e1	T	C	8: 73,238,506 (GRCm39)	K334R	probably damaging	Het
Synj1	A	T	16: 90,788,315 (GRCm39)	N184K	possibly damaging	Het
Syt1	T	C	10: 108,478,109 (GRCm39)	D105G	probably benign	Het
Taar7e	T	A	10: 23,913,902 (GRCm39)	C131S	possibly damaging	Het
Tead4	A	G	6: 128,220,331 (GRCm39)		probably null	Het
Tescl	C	A	7: 24,033,076 (GRCm39)	R83L	probably damaging	Het
Ufd1	G	T	16: 18,633,616 (GRCm39)	V14F	probably benign	Het
Ugt1a10	T	A	1: 87,983,477 (GRCm39)	Y92N	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r67	G	A	7: 84,801,036 (GRCm39)	T300I	possibly damaging	Het
Wt1	T	G	2: 104,997,205 (GRCm39)	S381A	probably damaging	Het
Zbtb44	C	T	9: 30,965,504 (GRCm39)	Q305*	probably null	Het

Other mutations in Or5b120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Or5b120	APN	19	13,480,105 (GRCm39)	missense	possibly damaging	0.55
IGL02394:Or5b120	APN	19	13,480,228 (GRCm39)	missense	probably damaging	0.97
R0047:Or5b120	UTSW	19	13,479,953 (GRCm39)	missense	probably benign	0.30
R0047:Or5b120	UTSW	19	13,479,953 (GRCm39)	missense	probably benign	0.30
R0356:Or5b120	UTSW	19	13,480,441 (GRCm39)	missense	possibly damaging	0.74
R0617:Or5b120	UTSW	19	13,479,900 (GRCm39)	missense	probably damaging	1.00
R1589:Or5b120	UTSW	19	13,480,121 (GRCm39)	missense	probably benign	0.03
R1725:Or5b120	UTSW	19	13,479,883 (GRCm39)	missense	probably damaging	1.00
R2153:Or5b120	UTSW	19	13,479,852 (GRCm39)	missense	probably damaging	1.00
R2362:Or5b120	UTSW	19	13,479,872 (GRCm39)	missense	probably damaging	1.00
R3402:Or5b120	UTSW	19	13,480,312 (GRCm39)	missense	probably benign	0.11
R4513:Or5b120	UTSW	19	13,479,986 (GRCm39)	missense	probably benign	0.05
R5197:Or5b120	UTSW	19	13,479,748 (GRCm39)	missense	possibly damaging	0.68
R5205:Or5b120	UTSW	19	13,480,163 (GRCm39)	missense	probably damaging	1.00
R5511:Or5b120	UTSW	19	13,480,556 (GRCm39)	missense	probably benign	0.12
R5838:Or5b120	UTSW	19	13,479,922 (GRCm39)	missense	probably damaging	1.00
R6023:Or5b120	UTSW	19	13,480,067 (GRCm39)	missense	probably damaging	1.00
R6232:Or5b120	UTSW	19	13,480,427 (GRCm39)	missense	probably damaging	1.00
R6700:Or5b120	UTSW	19	13,480,177 (GRCm39)	missense	probably damaging	0.97
R6769:Or5b120	UTSW	19	13,480,318 (GRCm39)	missense	possibly damaging	0.83
R6771:Or5b120	UTSW	19	13,480,318 (GRCm39)	missense	possibly damaging	0.83
R7002:Or5b120	UTSW	19	13,480,039 (GRCm39)	missense	probably benign	0.00
R7057:Or5b120	UTSW	19	13,480,243 (GRCm39)	missense	probably damaging	1.00
R7320:Or5b120	UTSW	19	13,480,544 (GRCm39)	missense	possibly damaging	0.89
R7827:Or5b120	UTSW	19	13,480,587 (GRCm39)	missense	probably damaging	1.00
R9199:Or5b120	UTSW	19	13,480,436 (GRCm39)	missense	probably damaging	1.00
R9286:Or5b120	UTSW	19	13,479,791 (GRCm39)	missense	possibly damaging	0.88
R9523:Or5b120	UTSW	19	13,479,712 (GRCm39)	missense	probably benign
R9606:Or5b120	UTSW	19	13,479,943 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGGAAGAAGGCCATTTCC -3'
(R):5'- GTGGTCAGTATTGGGTATCCTAATATC -3'

Sequencing Primer
(F):5'- GAAGAAGGCCATTTCCACCTGTG -3'
(R):5'- ATGCCCGGAACTACAAT -3'

Posted On

2019-12-20