Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Or5b124'

490123

Institutional Source

Beutler Lab

Gene Symbol

Or5b124

Ensembl Gene

ENSMUSG00000045678

Gene Name

olfactory receptor family 5 subfamily B member 124

Synonyms

MOR202-19, Olfr1489, GA_x6K02T2RE5P-3965668-3966609

MMRRC Submission

044311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13610477-13611418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13610952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 159 (A159V)

Ref Sequence

ENSEMBL: ENSMUSP00000149711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053113] [ENSMUST00000217182]

AlphaFold

Q8VFQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000053113
AA Change: A159V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: A159V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.7e-53	PFAM
Pfam:7tm_1	39	289	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104103

Predicted Effect

probably benign
Transcript: ENSMUST00000217182
AA Change: A159V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,590,623 (GRCm39)	E303G	possibly damaging	Het
Atosa	A	G	9: 74,932,954 (GRCm39)	T974A	probably damaging	Het
C2cd5	T	C	6: 142,995,954 (GRCm39)	T389A	possibly damaging	Het
Catsperb	T	A	12: 101,542,075 (GRCm39)	Y592N	possibly damaging	Het
Cfap91	A	G	16: 38,154,173 (GRCm39)	F124S	possibly damaging	Het
Cnot9	T	C	1: 74,567,952 (GRCm39)	V280A	probably benign	Het
Cyld	A	G	8: 89,473,561 (GRCm39)	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,512,251 (GRCm39)	S490T	probably benign	Het
Fance	C	T	17: 28,545,068 (GRCm39)	R150C	probably benign	Het
Far1	A	G	7: 113,153,425 (GRCm39)	K353E	probably benign	Het
Fbn1	T	C	2: 125,174,283 (GRCm39)	I1858V	probably damaging	Het
Frem1	T	C	4: 82,874,492 (GRCm39)	K1359E	probably benign	Het
Ghdc	T	G	11: 100,659,928 (GRCm39)	E273A	possibly damaging	Het
Gpt	A	G	15: 76,582,170 (GRCm39)	D209G	probably benign	Het
Hspb7	T	C	4: 141,149,862 (GRCm39)	F83L	probably benign	Het
Itga7	A	G	10: 128,778,804 (GRCm39)	I306M	probably benign	Het
Itgb5	A	G	16: 33,719,612 (GRCm39)	E261G	probably benign	Het
Kcnj14	G	T	7: 45,469,424 (GRCm39)	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,979,760 (GRCm39)	H470R	probably damaging	Het
Macroh2a1	A	T	13: 56,252,268 (GRCm39)	N108K	probably damaging	Het
Morc3	T	C	16: 93,638,271 (GRCm39)	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,038,565 (GRCm39)	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,947,832 (GRCm39)	M549K	probably benign	Het
Msl1	T	C	11: 98,695,673 (GRCm39)	V563A	probably damaging	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Phf2	C	A	13: 48,967,341 (GRCm39)		probably null	Het
Pjvk	T	G	2: 76,480,562 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,150,739 (GRCm39)	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtkn	G	T	6: 83,122,944 (GRCm39)	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,192,807 (GRCm39)	F121L	possibly damaging	Het
Slc34a1	G	A	13: 23,999,053 (GRCm39)	V149I	probably benign	Het
Sobp	A	G	10: 42,898,599 (GRCm39)	S329P	probably damaging	Het
Syne1	A	T	10: 5,375,678 (GRCm39)	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,578,519 (GRCm39)	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,856,711 (GRCm39)	Y243C	probably damaging	Het
Trank1	T	C	9: 111,220,940 (GRCm39)	V2559A	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Uso1	A	T	5: 92,335,126 (GRCm39)	L495F	probably damaging	Het
Wdr24	A	G	17: 26,045,395 (GRCm39)	I377V	probably benign	Het
Xpo5	T	A	17: 46,546,883 (GRCm39)	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,256,574 (GRCm39)	I1515V	probably benign	Het
Zfp319	CA	C	8: 96,054,733 (GRCm39)	489	probably null	Het
Zfp384	T	G	6: 125,001,896 (GRCm39)		probably null	Het
Zfp704	G	T	3: 9,508,946 (GRCm39)	P416T	probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Or5b124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Or5b124	APN	19	13,610,903 (GRCm39)	missense	probably benign	0.25
IGL03052:Or5b124	UTSW	19	13,611,090 (GRCm39)	missense	probably benign	0.00
R0179:Or5b124	UTSW	19	13,610,504 (GRCm39)	missense	probably damaging	1.00
R0270:Or5b124	UTSW	19	13,611,048 (GRCm39)	missense	probably damaging	1.00
R0633:Or5b124	UTSW	19	13,610,700 (GRCm39)	missense	probably damaging	0.99
R4466:Or5b124	UTSW	19	13,610,801 (GRCm39)	missense	probably damaging	0.97
R4884:Or5b124	UTSW	19	13,611,391 (GRCm39)	missense	probably benign	0.14
R5247:Or5b124	UTSW	19	13,610,778 (GRCm39)	missense	probably damaging	1.00
R5332:Or5b124	UTSW	19	13,610,729 (GRCm39)	missense	possibly damaging	0.91
R5754:Or5b124	UTSW	19	13,611,357 (GRCm39)	missense	probably damaging	0.99
R6165:Or5b124	UTSW	19	13,610,507 (GRCm39)	missense	possibly damaging	0.93
R6221:Or5b124	UTSW	19	13,610,830 (GRCm39)	nonsense	probably null
R6486:Or5b124	UTSW	19	13,611,055 (GRCm39)	missense	probably damaging	1.00
R7008:Or5b124	UTSW	19	13,610,985 (GRCm39)	missense	probably damaging	1.00
R7076:Or5b124	UTSW	19	13,611,244 (GRCm39)	missense	possibly damaging	0.95
R7539:Or5b124	UTSW	19	13,610,933 (GRCm39)	nonsense	probably null
R8278:Or5b124	UTSW	19	13,610,958 (GRCm39)	missense	possibly damaging	0.87
R8708:Or5b124	UTSW	19	13,611,401 (GRCm39)	missense	probably benign	0.00
R9169:Or5b124	UTSW	19	13,610,903 (GRCm39)	missense	probably benign
R9185:Or5b124	UTSW	19	13,610,765 (GRCm39)	missense	probably benign	0.03
R9200:Or5b124	UTSW	19	13,610,595 (GRCm39)	missense	probably damaging	1.00
R9229:Or5b124	UTSW	19	13,611,414 (GRCm39)	missense	probably damaging	0.98
R9381:Or5b124	UTSW	19	13,610,647 (GRCm39)	missense	probably damaging	1.00
R9708:Or5b124	UTSW	19	13,610,760 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5b124	UTSW	19	13,610,817 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGCTACACAGATGTTCTTC -3'
(R):5'- GTAGAACGCATCCTCAAGATTGC -3'

Sequencing Primer
(F):5'- CGCTACACAGATGTTCTTCTTAATAG -3'
(R):5'- ATCCTCAAGATTGCAACAAAAATAAG -3'

Posted On

2017-10-10