Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Or5b24'

471320

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

044145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5958 (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 12912411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 103 (F103S)

Ref Sequence

ENSEMBL: ENSMUSP00000148934 (fasta)

Gene Model

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

AlphaFold

Q8VEV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056005
AA Change: F103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056181
Gene: ENSMUSG00000049498
AA Change: F103S

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

probably damaging
Transcript: ENSMUST00000208624
AA Change: F103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214079
AA Change: F103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215325
AA Change: F103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3121

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

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
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	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
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
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'- AACCACATTAGCACAGTAGGGG -3'

Sequencing Primer
(F):5'- CATTATCGTGTTGATATGGCTGGAC -3'
(R):5'- GTGAATCCAGTATGTATAGCAGACTC -3'

Posted On

2017-03-31