Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03052:Or5b124'

392206

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

Accession Numbers

Essential gene?

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

Stock #

IGL03052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13610477-13611418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13611090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 205 (I205T)

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: I205T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: I205T

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: I205T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	C	4: 155,987,815 (GRCm39)	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,881,894 (GRCm39)	V267A	probably benign	Het
Asap1	A	G	15: 64,025,683 (GRCm39)		probably benign	Het
Bcl6	T	C	16: 23,793,788 (GRCm39)		probably benign	Het
Ccdc73	C	A	2: 104,782,281 (GRCm39)	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,633 (GRCm39)	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,639,206 (GRCm39)	L238R	probably damaging	Het
Chl1	A	T	6: 103,668,628 (GRCm39)	T470S	probably benign	Het
Cnga4	T	C	7: 105,053,932 (GRCm39)	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,275,662 (GRCm39)	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,637,329 (GRCm39)	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,533,909 (GRCm39)	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,858,240 (GRCm39)	V164A	probably damaging	Het
Dnaaf8	A	T	16: 4,795,358 (GRCm39)		noncoding transcript	Het
Dnah7c	A	G	1: 46,671,309 (GRCm39)	Y1566C	probably damaging	Het
Dnase1l2	T	C	17: 24,659,968 (GRCm39)		probably benign	Het
Dock2	G	T	11: 34,182,853 (GRCm39)	N1593K	probably benign	Het
Dpp6	G	T	5: 27,914,506 (GRCm39)	M530I	probably benign	Het
Epm2a	T	C	10: 11,332,974 (GRCm39)	V269A	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fgf2	A	G	3: 37,403,161 (GRCm39)	S55G	probably benign	Het
Frem3	C	T	8: 81,341,159 (GRCm39)	P1151S	probably damaging	Het
Gm15737	T	C	6: 92,846,481 (GRCm39)		probably benign	Het
Gpi-ps	T	A	8: 5,689,816 (GRCm39)		noncoding transcript	Het
Gvin-ps6	T	C	7: 106,022,902 (GRCm39)		noncoding transcript	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Larp7-ps	A	G	4: 92,079,287 (GRCm39)	L178P	probably benign	Het
Macf1	T	C	4: 123,281,188 (GRCm39)	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,865,731 (GRCm39)	R8L	probably benign	Het
Mecom	C	T	3: 30,015,112 (GRCm39)		probably benign	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,293,341 (GRCm39)	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,876 (GRCm39)	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,159,798 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,173,442 (GRCm39)		probably benign	Het
Or52m2	C	T	7: 102,263,656 (GRCm39)	R180Q	probably benign	Het
Or7g25	A	T	9: 19,159,938 (GRCm39)	Y252*	probably null	Het
Pcca	A	T	14: 123,124,513 (GRCm39)	M695L	probably benign	Het
Pcdha2	A	T	18: 37,074,670 (GRCm39)	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,459,189 (GRCm39)	D16N	probably benign	Het
Prr11	T	C	11: 86,994,478 (GRCm39)	N56S	possibly damaging	Het
Rxfp2	A	T	5: 149,966,645 (GRCm39)		probably benign	Het
Sacs	G	T	14: 61,445,307 (GRCm39)	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,371,163 (GRCm39)	A4V	probably damaging	Het
Scart2	G	A	7: 139,828,827 (GRCm39)	C162Y	probably damaging	Het
Sik3	C	A	9: 46,109,447 (GRCm39)	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,594,311 (GRCm39)	I59L	probably benign	Het
Sspo	G	A	6: 48,437,387 (GRCm39)	G1382R	probably damaging	Het
Stx16	C	A	2: 173,934,231 (GRCm39)	P145T	probably benign	Het
Tnrc18	G	A	5: 142,760,974 (GRCm39)	A674V	unknown	Het
Uqcrq	A	G	11: 53,321,476 (GRCm39)	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 86,652,799 (GRCm39)	E497V	probably benign	Het
Vps8	T	A	16: 21,267,115 (GRCm39)	I166K	probably damaging	Het
Vwa8	A	G	14: 79,302,361 (GRCm39)	D1010G	probably benign	Het
Wnk1	T	A	6: 119,921,760 (GRCm39)		probably benign	Het
Zfand3	T	A	17: 30,279,798 (GRCm39)	M29K	probably benign	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
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
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'- ATATGTACCCTGCTCATTGTGGG -3'
(R):5'- CCTTGTCAGTGTCCATGGAG -3'

Sequencing Primer
(F):5'- GGGTTCTTACATCAGTGGACTCTTAC -3'
(R):5'- TCCATGGAGTGAGTGGAGC -3'

Posted On

2016-06-09