Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Or5b124'

638096

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

067701-MU

Accession Numbers

Essential gene?

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

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13610477-13611418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13610958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 161 (T161I)

Ref Sequence

ENSEMBL: ENSMUSP00000062444 (fasta)

Gene Model

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

AlphaFold

Q8VFQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053113
AA Change: T161I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: T161I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly damaging	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	13,610,952 (GRCm39)	missense	probably benign	0.02
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
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'- GAACGCATCCTCAAGATTGC -3'

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

Posted On

2020-07-28