Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Or5b124'

330374

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

041723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13610477-13611418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13610801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 109 (E109K)

Ref Sequence

ENSEMBL: ENSMUSP00000149711 (fasta)

Gene Model

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

AlphaFold

Q8VFQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053113
AA Change: E109K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: E109K

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 damaging
Transcript: ENSMUST00000217182
AA Change: E109K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.1917

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,745,887 (GRCm39)		noncoding transcript	Het
Adgra1	T	A	7: 139,420,752 (GRCm39)		probably benign	Het
Akap13	T	A	7: 75,252,521 (GRCm39)		probably null	Het
Amn1	T	C	6: 149,068,343 (GRCm39)		probably null	Het
Ano5	T	A	7: 51,220,023 (GRCm39)	F374I	probably damaging	Het
Apol7c	T	C	15: 77,410,664 (GRCm39)	E94G	probably benign	Het
Arid4b	A	T	13: 14,307,095 (GRCm39)	S117C	probably damaging	Het
Atm	C	A	9: 53,359,469 (GRCm39)	E2778*	probably null	Het
Cped1	A	T	6: 22,123,651 (GRCm39)	Q468L	probably benign	Het
Crygb	A	G	1: 65,119,645 (GRCm39)	S112P	probably damaging	Het
Eeig2	T	A	3: 108,887,124 (GRCm39)	R291S	probably benign	Het
Eml4	C	T	17: 83,729,103 (GRCm39)	Q93*	probably null	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fhad1	A	T	4: 141,684,969 (GRCm39)	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,300,614 (GRCm39)		probably null	Het
Gm5134	G	C	10: 75,844,409 (GRCm39)	K588N	probably benign	Het
Gpr21	A	G	2: 37,407,570 (GRCm39)	T39A	probably benign	Het
Irx1	C	A	13: 72,108,101 (GRCm39)	G194W	probably damaging	Het
Itgal	C	T	7: 126,927,684 (GRCm39)	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,325,316 (GRCm39)	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,370,328 (GRCm39)	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,776,018 (GRCm39)	D180G	probably damaging	Het
M6pr	A	G	6: 122,290,228 (GRCm39)	T64A	probably benign	Het
Mrpl47	G	A	3: 32,784,240 (GRCm39)	R177*	probably null	Het
Mtfr2	A	G	10: 20,224,159 (GRCm39)	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Oas2	A	G	5: 120,887,667 (GRCm39)	S58P	probably damaging	Het
Or1j11	A	T	2: 36,312,308 (GRCm39)	R299S	probably benign	Het
Or8b36	T	A	9: 37,937,479 (GRCm39)	C126S	probably damaging	Het
Polr1b	A	T	2: 128,965,802 (GRCm39)	I815L	probably benign	Het
Psma8	T	C	18: 14,854,231 (GRCm39)	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,483,447 (GRCm39)	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,204,182 (GRCm39)		probably benign	Het
Serpina3m	A	T	12: 104,357,874 (GRCm39)	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,559,023 (GRCm39)	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,299,688 (GRCm39)	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,146,099 (GRCm39)		probably benign	Het
Smyd2	A	G	1: 189,614,349 (GRCm39)	M393T	probably benign	Het
Sox8	C	A	17: 25,787,879 (GRCm39)	G190V	probably benign	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stk35	C	A	2: 129,643,436 (GRCm39)	T140K	probably damaging	Het
Taf6	A	C	5: 138,179,463 (GRCm39)		probably benign	Het
Ten1	A	C	11: 116,095,823 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttn	A	G	2: 76,544,044 (GRCm39)	F32981L	probably damaging	Het
Zik1	G	T	7: 10,224,893 (GRCm39)	T68K	probably benign	Het
Zzef1	T	A	11: 72,815,485 (GRCm39)	I2935N	probably 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
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'- AGTCTCCACACTCCCATGTACT -3'
(R):5'- CACTAGAGCAAGAAAGAGCCAGT -3'

Sequencing Primer
(F):5'- AACCTCTCACTGGTGGAT -3'
(R):5'- CCAGTAGTGGGGGAATGTCAC -3'

Posted On

2015-07-21