Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Or5b120'

698132

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: 0.058) question?

Stock #

R9199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13477910-13480656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13480436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 243 (H243R)

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: H243R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217001
AA Change: H243R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Cacna2d4	T	A	6: 119,244,787 (GRCm39)	D274E	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Garem2	A	G	5: 30,319,471 (GRCm39)	H311R	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Kcnj8	T	C	6: 142,512,118 (GRCm39)	N163S	probably damaging	Het
Klri1	A	T	6: 129,674,264 (GRCm39)	*249R	probably null	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll12	A	G	15: 83,466,559 (GRCm39)	F336S	probably damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	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
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
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'- TCTTACTTGAGTGGACTCTTACAC -3'
(R):5'- TCCAGCAACCTTCTTGAATGC -3'

Sequencing Primer
(F):5'- CTGTCGTTCTAATGTAGTCAATCAC -3'
(R):5'- AGCAACCTTCTTGAATGCATTCTTG -3'

Posted On

2022-02-07