Mutagenetix > Incidental Mutation

Incidental Mutation 'R9286:Or5b120'

703952

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13477910-13480656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13479791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 28 (I28N)

Ref Sequence

ENSEMBL: ENSMUSP00000149565 (fasta)

Gene Model

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

AlphaFold

Q7TQQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214274
AA Change: I28N

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217001
AA Change: I28N

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	C	15: 91,058,827 (GRCm39)	P539R	possibly damaging	Het
Adgrl3	A	T	5: 81,794,413 (GRCm39)	D478V	probably benign	Het
Adgrv1	A	T	13: 81,594,520 (GRCm39)	Y4165N	probably damaging	Het
Ago2	A	G	15: 72,997,065 (GRCm39)	L326P	probably damaging	Het
Akap6	A	C	12: 53,119,254 (GRCm39)	K1107T	possibly damaging	Het
Ank2	C	T	3: 126,846,381 (GRCm39)	A205T	probably damaging	Het
Ankrd27	T	C	7: 35,326,869 (GRCm39)	V738A	probably benign	Het
Asb1	A	G	1: 91,480,150 (GRCm39)	K291R	probably benign	Het
Cacna1e	G	T	1: 154,288,845 (GRCm39)	P1847T	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cps1	T	G	1: 67,198,030 (GRCm39)	M365R	probably damaging	Het
Ctc1	T	G	11: 68,917,180 (GRCm39)		probably null	Het
Cyp2b10	G	T	7: 25,616,391 (GRCm39)	G333C	probably damaging	Het
Cyp2d12	A	G	15: 82,443,403 (GRCm39)	E455G	probably damaging	Het
Daam2	A	T	17: 49,786,922 (GRCm39)	D539E	possibly damaging	Het
Dip2a	T	A	10: 76,138,096 (GRCm39)	Y370F	probably benign	Het
Dok5	G	A	2: 170,672,099 (GRCm39)	E134K	possibly damaging	Het
Dync2h1	C	T	9: 6,941,668 (GRCm39)	A4164T	probably benign	Het
Ecm2	A	G	13: 49,683,696 (GRCm39)	Y558C		Het
Eif3b	A	G	5: 140,411,064 (GRCm39)	I172V	probably benign	Het
Flnb	T	C	14: 7,873,414 (GRCm38)	F237L	probably damaging	Het
Gdpd4	A	G	7: 97,647,639 (GRCm39)	I429V	probably damaging	Het
Grik1	T	C	16: 87,848,315 (GRCm39)	Y151C		Het
Gys2	C	A	6: 142,376,037 (GRCm39)	V542L	possibly damaging	Het
Hmx1	A	G	5: 35,546,776 (GRCm39)	T106A	probably benign	Het
Il1rap	T	C	16: 26,517,604 (GRCm39)	V268A	possibly damaging	Het
Kansl3	T	C	1: 36,387,720 (GRCm39)	T543A	probably benign	Het
Kcnk1	T	A	8: 126,752,148 (GRCm39)		probably null	Het
Larp7	CCTTCTT	CCTT	3: 127,340,008 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,740,844 (GRCm39)	F449L	probably damaging	Het
Lmod2	A	G	6: 24,603,712 (GRCm39)	E229G	probably damaging	Het
Loxl4	A	T	19: 42,586,047 (GRCm39)	V699E	possibly damaging	Het
Miga2	A	G	2: 30,273,609 (GRCm39)	D489G	probably benign	Het
Nlrp1b	T	A	11: 71,060,573 (GRCm39)	H748L	probably benign	Het
Nudcd2	T	A	11: 40,627,403 (GRCm39)	Y108N	probably damaging	Het
Or10g1	G	A	14: 52,648,075 (GRCm39)	R85*	probably null	Het
Or52b2	A	C	7: 104,985,971 (GRCm39)	C317W	probably damaging	Het
Pcdhb17	T	A	18: 37,619,422 (GRCm39)	V404E	probably benign	Het
Pde4dip	T	C	3: 97,607,183 (GRCm39)	D2084G	probably damaging	Het
Phf20	A	T	2: 156,134,470 (GRCm39)	K552M	probably damaging	Het
Plcg2	A	G	8: 118,331,976 (GRCm39)	D854G	probably benign	Het
Psen1	A	G	12: 83,775,549 (GRCm39)	N316D	probably benign	Het
Rabgap1l	G	A	1: 160,051,818 (GRCm39)	Q361*	probably null	Het
Ralb	A	T	1: 119,399,544 (GRCm39)	D171E	probably benign	Het
Rev3l	T	C	10: 39,682,947 (GRCm39)	I355T	possibly damaging	Het
Rttn	A	G	18: 88,995,849 (GRCm39)	K211E	probably benign	Het
Scg2	A	G	1: 79,413,653 (GRCm39)	S357P	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,445,566 (GRCm39)	W456R	probably damaging	Het
Slf1	A	T	13: 77,191,932 (GRCm39)	D967E	probably damaging	Het
Spryd3	A	T	15: 102,041,869 (GRCm39)	V51E	possibly damaging	Het
Tgfbi	A	G	13: 56,773,563 (GRCm39)	H187R	probably damaging	Het
Tmc3	A	G	7: 83,252,643 (GRCm39)	E348G	probably damaging	Het
Tmem45a2	A	G	16: 56,867,332 (GRCm39)	I123T	probably damaging	Het
Tonsl	G	A	15: 76,515,213 (GRCm39)	H1058Y	probably damaging	Het
Trav13d-1	A	G	14: 53,089,050 (GRCm39)	K20E	probably benign	Het
Trpm2	C	A	10: 77,777,014 (GRCm39)	V428L	probably benign	Het
Usp25	A	G	16: 76,904,864 (GRCm39)	Y810C	probably damaging	Het
Vmn1r40	T	A	6: 89,692,079 (GRCm39)	F299I	probably benign	Het
Vmn2r18	A	G	5: 151,499,175 (GRCm39)	F430L	probably benign	Het
Vps13c	G	A	9: 67,880,203 (GRCm39)	V3462I	probably benign	Het
Zfp955b	T	C	17: 33,521,683 (GRCm39)	I384T	probably benign	Het
Zmym4	T	C	4: 126,783,812 (GRCm39)	D1138G	probably 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
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
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
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'- CACCCAGAATTCAGATGAGATCATTTC -3'
(R):5'- AACCTTCCATCACCTTGGGG -3'

Sequencing Primer
(F):5'- TACTGTACAGGATGCTGACAC -3'
(R):5'- CCTTGGGGGTGACAGCTGAG -3'

Posted On

2022-03-25