Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Or5b120'

528248

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

044818-MU

Accession Numbers

Essential gene?

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

Stock #

R6700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13477910-13480656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13480177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 157 (I157F)

Ref Sequence

ENSEMBL: ENSMUSP00000149565 (fasta)

Gene Model

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

AlphaFold

Q7TQQ7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208393

Predicted Effect

probably damaging
Transcript: ENSMUST00000214274
AA Change: I157F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217001
AA Change: I157F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,881,140 (GRCm39)	E504G	unknown	Het
Aak1	G	A	6: 86,941,185 (GRCm39)	E660K	unknown	Het
Abcc9	A	G	6: 142,633,013 (GRCm39)	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,463,000 (GRCm39)	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,162,036 (GRCm39)	D2295E	probably benign	Het
Blm	A	G	7: 80,113,598 (GRCm39)	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,695,700 (GRCm39)	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,570,458 (GRCm39)	E1011G	probably damaging	Het
Cdh18	A	G	15: 23,474,191 (GRCm39)	Y687C	probably benign	Het
Cfap221	T	C	1: 119,883,421 (GRCm39)	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cps1	G	T	1: 67,268,682 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,760,130 (GRCm39)	V34A	probably damaging	Het
Dnah9	C	T	11: 65,846,192 (GRCm39)	V2949M	probably damaging	Het
Dst	A	C	1: 34,295,404 (GRCm39)	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,391,611 (GRCm39)	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189 (GRCm38)	H619Q	probably damaging	Het
Fst	G	C	13: 114,595,043 (GRCm39)	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,730,931 (GRCm39)	R364L	probably damaging	Het
Gins1	C	T	2: 150,758,148 (GRCm39)	A78V	probably damaging	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,695,946 (GRCm39)		probably benign	Het
Lin7a	A	G	10: 107,216,167 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,456,523 (GRCm39)	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,286,034 (GRCm39)	G753D	probably damaging	Het
Mapk4	A	G	18: 74,063,882 (GRCm39)	Y447H	probably damaging	Het
Mbl1	A	G	14: 40,880,511 (GRCm39)	N133S	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nbea	T	C	3: 55,989,869 (GRCm39)	N329S	possibly damaging	Het
Or13p10	A	T	4: 118,523,609 (GRCm39)	K298N	probably benign	Het
Or51k2	G	A	7: 103,596,531 (GRCm39)	V253M	probably damaging	Het
Or6k14	G	A	1: 173,927,405 (GRCm39)	C127Y	probably damaging	Het
Pik3c3	A	G	18: 30,449,954 (GRCm39)	E589G	probably benign	Het
Plb1	A	T	5: 32,490,808 (GRCm39)	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,907,373 (GRCm39)	M763I	probably benign	Het
Poc5	A	G	13: 96,531,003 (GRCm39)	N67S	probably benign	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rbm27	A	G	18: 42,459,004 (GRCm39)	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,075,594 (GRCm39)	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rp1	G	A	1: 4,420,119 (GRCm39)	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc9a9	T	C	9: 94,818,364 (GRCm39)	S253P	possibly damaging	Het
St8sia3	C	T	18: 64,398,452 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,493,975 (GRCm39)	D366G	probably null	Het
Tbx5	A	G	5: 120,009,462 (GRCm39)	T324A	probably benign	Het
Tex15	T	A	8: 34,064,917 (GRCm39)	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,307,339 (GRCm39)	V222I	probably benign	Het
Top3b	T	C	16: 16,710,533 (GRCm39)	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,785 (GRCm39)	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,020,329 (GRCm39)	V434E	probably benign	Het
Ufsp1	A	G	5: 137,293,158 (GRCm39)	Y36C	possibly damaging	Het
Unc79	T	A	12: 103,091,962 (GRCm39)	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,389,011 (GRCm39)	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,822,462 (GRCm39)	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,322,938 (GRCm39)	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,315,633 (GRCm39)	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,140,587 (GRCm39)	L310M	probably damaging	Het
Zc3h7a	T	C	16: 10,976,831 (GRCm39)	Q155R	possibly damaging	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
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
R7913:Or5b120	UTSW	19	13,480,571 (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'- ATGTGCTGCCCAGATGTTCTTC -3'
(R):5'- GCGCATTCTCACAATTGCAAC -3'

Sequencing Primer
(F):5'- GCCCAGATGTTCTTCTTTGTAG -3'
(R):5'- ATTCTCACAATTGCAACAGAAATTAG -3'

Posted On

2018-07-24