Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Or5b24'

366107

Institutional Source

Beutler Lab

Gene Symbol

Or5b24

Ensembl Gene

ENSMUSG00000049498

Gene Name

olfactory receptor family 5 subfamily B member 24

Synonyms

Olfr1449, GA_x6K02T2RE5P-3264213-3265157, MOR202-34

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12912104-12913048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12912440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 113 (C113R)

Ref Sequence

ENSEMBL: ENSMUSP00000148934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056005] [ENSMUST00000208624] [ENSMUST00000214079] [ENSMUST00000215325]

AlphaFold

Q8VEV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056005
AA Change: C113R

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: C113R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	4.5e-53	PFAM
Pfam:7tm_1	42	290	3.7e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208624
AA Change: C113R

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214079
AA Change: C113R

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215325
AA Change: C113R

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	probably benign	Het

Other mutations in Or5b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Or5b24	APN	19	12,912,926 (GRCm39)	missense	probably damaging	0.98
IGL01943:Or5b24	APN	19	12,913,038 (GRCm39)	missense	probably benign	0.24
IGL02966:Or5b24	APN	19	12,912,164 (GRCm39)	missense	probably benign	0.08
IGL02974:Or5b24	APN	19	12,912,399 (GRCm39)	missense	probably benign	0.02
IGL03220:Or5b24	APN	19	12,912,858 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Or5b24	UTSW	19	12,912,641 (GRCm39)	missense	probably damaging	0.98
R0285:Or5b24	UTSW	19	12,912,536 (GRCm39)	missense	probably benign	0.00
R0573:Or5b24	UTSW	19	12,912,624 (GRCm39)	missense	possibly damaging	0.77
R0588:Or5b24	UTSW	19	12,912,111 (GRCm39)	missense	probably benign	0.00
R0726:Or5b24	UTSW	19	12,912,969 (GRCm39)	missense	probably damaging	1.00
R1006:Or5b24	UTSW	19	12,912,638 (GRCm39)	missense	probably damaging	1.00
R1146:Or5b24	UTSW	19	12,912,329 (GRCm39)	missense	possibly damaging	0.77
R1146:Or5b24	UTSW	19	12,912,329 (GRCm39)	missense	possibly damaging	0.77
R1386:Or5b24	UTSW	19	12,912,503 (GRCm39)	missense	probably benign	0.17
R1735:Or5b24	UTSW	19	12,912,207 (GRCm39)	missense	probably damaging	1.00
R1794:Or5b24	UTSW	19	12,912,332 (GRCm39)	missense	probably damaging	0.97
R2355:Or5b24	UTSW	19	12,912,383 (GRCm39)	missense	possibly damaging	0.91
R2511:Or5b24	UTSW	19	12,912,537 (GRCm39)	missense	possibly damaging	0.85
R4673:Or5b24	UTSW	19	12,912,461 (GRCm39)	missense	probably damaging	1.00
R4749:Or5b24	UTSW	19	12,912,581 (GRCm39)	missense	probably benign	0.02
R5112:Or5b24	UTSW	19	12,912,180 (GRCm39)	missense	probably benign	0.01
R5958:Or5b24	UTSW	19	12,912,411 (GRCm39)	missense	probably damaging	1.00
R6115:Or5b24	UTSW	19	12,912,948 (GRCm39)	missense	possibly damaging	0.54
R6152:Or5b24	UTSW	19	12,912,851 (GRCm39)	missense	probably benign	0.13
R6417:Or5b24	UTSW	19	12,912,584 (GRCm39)	missense	probably damaging	1.00
R6420:Or5b24	UTSW	19	12,912,584 (GRCm39)	missense	probably damaging	1.00
R6695:Or5b24	UTSW	19	12,912,764 (GRCm39)	missense	possibly damaging	0.95
R6963:Or5b24	UTSW	19	12,913,002 (GRCm39)	missense	probably damaging	0.96
R8377:Or5b24	UTSW	19	12,912,399 (GRCm39)	missense	probably benign	0.02
R8904:Or5b24	UTSW	19	12,912,192 (GRCm39)	missense	probably benign	0.00
R9400:Or5b24	UTSW	19	12,912,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGAATCTGGGCATTATCG -3'
(R):5'- TGAACCACATTAGCACAGTAGG -3'

Sequencing Primer
(F):5'- GATATGGCTGGACTTCCGC -3'
(R):5'- CCACATTAGCACAGTAGGGGAGG -3'

Posted On

2015-12-21