Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Or13a24'

350888

Institutional Source

Beutler Lab

Gene Symbol

Or13a24

Ensembl Gene

ENSMUSG00000095901

Gene Name

olfactory receptor family 13 subfamily A member 24

Synonyms

Olfr538, MOR253-13P, MOR253-13P, MOR253-12P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1523-ps1, Olfr1553-ps1, MOR253-12P

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140154068-140155000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140154554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 163 (M163V)

Ref Sequence

ENSEMBL: ENSMUSP00000147315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084457] [ENSMUST00000210973]

AlphaFold

Q7TRT5

Predicted Effect

probably benign
Transcript: ENSMUST00000084457
AA Change: M163V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: M163V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	304	2.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210973
AA Change: M163V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	Het

Other mutations in Or13a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Or13a24	APN	7	140,154,683 (GRCm39)	missense	possibly damaging	0.93
IGL02066:Or13a24	APN	7	140,154,413 (GRCm39)	missense	possibly damaging	0.55
IGL02214:Or13a24	APN	7	140,154,470 (GRCm39)	nonsense	probably null
IGL02466:Or13a24	APN	7	140,154,684 (GRCm39)	missense	probably benign	0.01
IGL02534:Or13a24	APN	7	140,154,554 (GRCm39)	missense	probably benign	0.00
R0631:Or13a24	UTSW	7	140,154,420 (GRCm39)	missense	probably damaging	1.00
R0989:Or13a24	UTSW	7	140,154,200 (GRCm39)	missense	probably damaging	0.99
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1533:Or13a24	UTSW	7	140,155,034 (GRCm39)	splice site	probably null
R1764:Or13a24	UTSW	7	140,154,383 (GRCm39)	missense	probably damaging	0.97
R2184:Or13a24	UTSW	7	140,154,315 (GRCm39)	missense	probably benign
R2513:Or13a24	UTSW	7	140,154,069 (GRCm39)	start codon destroyed	probably null	0.97
R4445:Or13a24	UTSW	7	140,154,302 (GRCm39)	missense	probably damaging	1.00
R4476:Or13a24	UTSW	7	140,154,842 (GRCm39)	missense	probably damaging	1.00
R4607:Or13a24	UTSW	7	140,154,554 (GRCm39)	missense	probably benign	0.02
R4752:Or13a24	UTSW	7	140,154,515 (GRCm39)	missense	possibly damaging	0.57
R6934:Or13a24	UTSW	7	140,154,564 (GRCm39)	missense	probably damaging	1.00
R6978:Or13a24	UTSW	7	140,154,200 (GRCm39)	missense	probably damaging	0.99
R7559:Or13a24	UTSW	7	140,154,356 (GRCm39)	missense	probably damaging	1.00
R7583:Or13a24	UTSW	7	140,154,123 (GRCm39)	missense	probably benign	0.01
R7685:Or13a24	UTSW	7	140,154,159 (GRCm39)	missense	probably damaging	1.00
R8406:Or13a24	UTSW	7	140,154,044 (GRCm39)	start gained	probably benign
R8884:Or13a24	UTSW	7	140,154,224 (GRCm39)	missense	probably benign	0.00
Z1177:Or13a24	UTSW	7	140,154,869 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TTCAAAGGATGCATGGCCC -3'
(R):5'- GCAGGATGCTGGCAATGATG -3'

Sequencing Primer
(F):5'- GATGCATGGCCCAGCTCTTC -3'
(R):5'- TGATGCAGCCATAGGATAGC -3'

Posted On

2015-10-08