Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Or5b24'

46560

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

038763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12912104-12913048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12912624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 174 (V174A)

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: V174A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: V174A

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: V174A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214079
AA Change: V174A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215325
AA Change: V174A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.3512

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ccdc65	T	C	15: 98,618,930 (GRCm39)	V303A	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Hspb2	G	T	9: 50,662,664 (GRCm39)	T155K	probably benign	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Myoc	T	C	1: 162,476,243 (GRCm39)	Y316H	probably damaging	Het
Nags	A	G	11: 102,037,805 (GRCm39)	D266G	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Pwp2	G	A	10: 78,018,520 (GRCm39)	S88L	probably benign	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		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
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
R4765:Or5b24	UTSW	19	12,912,440 (GRCm39)	missense	possibly damaging	0.65
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'- TACTCCTCCGCTGTGACTCCAAAG -3'
(R):5'- AAAACAGATGCCATTTGGTCATTGTCC -3'

Sequencing Primer
(F):5'- GCTGTGACTCCAAAGGTGATG -3'
(R):5'- CTGGGCTGTAGGTACATGAAGATTAC -3'

Posted On

2013-06-11