Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Or13a24'

593008

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

045750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140154068-140155000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140154159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 31 (F31S)

Ref Sequence

ENSEMBL: ENSMUSP00000147315 (fasta)

Gene Model

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

AlphaFold

Q7TRT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084457
AA Change: F31S

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

SMART Domains

Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: F31S

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 damaging
Transcript: ENSMUST00000210973
AA Change: F31S

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

Meta Mutation Damage Score

0.1929

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (79/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,116,081 (GRCm39)	L251S	probably damaging	Het
Acsbg1	C	T	9: 54,535,843 (GRCm39)	S53N	unknown	Het
Adamts18	A	G	8: 114,439,855 (GRCm39)	C913R	probably damaging	Het
Adck5	C	A	15: 76,479,588 (GRCm39)	Y524*	probably null	Het
Adgrv1	G	T	13: 81,251,443 (GRCm39)	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,554,016 (GRCm39)	N701S	probably damaging	Het
Apc	T	C	18: 34,447,261 (GRCm39)	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,956,182 (GRCm39)	S38P	probably benign	Het
Celsr1	G	T	15: 85,862,933 (GRCm39)	C1366*	probably null	Het
Cep290	A	C	10: 100,375,919 (GRCm39)	H1424P	probably benign	Het
Clcn3	C	T	8: 61,386,119 (GRCm39)	R311K	possibly damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Dhx9	A	G	1: 153,334,152 (GRCm39)	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,876,947 (GRCm39)	T533I	probably damaging	Het
Ermard	T	C	17: 15,279,724 (GRCm39)	S505P	probably benign	Het
Fbxw17	G	A	13: 50,579,680 (GRCm39)	D166N	probably damaging	Het
Fmo3	T	C	1: 162,785,901 (GRCm39)	K363R	possibly damaging	Het
Frey1	C	A	2: 92,213,817 (GRCm39)	P68Q	probably damaging	Het
Gadd45gip1	A	T	8: 85,558,980 (GRCm39)	R21W	probably damaging	Het
Galnt4	A	G	10: 98,945,826 (GRCm39)	N517S	probably benign	Het
Ganc	T	A	2: 120,264,273 (GRCm39)	W409R	probably damaging	Het
Glrx3	T	C	7: 137,060,920 (GRCm39)	S185P	probably damaging	Het
Gm49368	T	C	7: 127,712,414 (GRCm39)	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,325,611 (GRCm39)	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,781,489 (GRCm39)	Q388L	probably benign	Het
Hcar2	C	T	5: 124,003,396 (GRCm39)	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,589,955 (GRCm39)	D377V	possibly damaging	Het
Ints5	A	G	19: 8,874,168 (GRCm39)	D709G	probably benign	Het
Lyst	A	G	13: 13,844,450 (GRCm39)	E1880G	probably benign	Het
Mep1a	C	T	17: 43,790,065 (GRCm39)	S428N	probably benign	Het
Mllt6	T	C	11: 97,567,790 (GRCm39)	L739P	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,956,111 (GRCm39)	M1T	probably null	Het
Muc5ac	C	T	7: 141,363,120 (GRCm39)	P2144S	unknown	Het
Myh4	T	C	11: 67,131,756 (GRCm39)	V72A	probably benign	Het
Naa15	T	A	3: 51,377,395 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,248,028 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,835,145 (GRCm39)	M514L	probably benign	Het
Nudt9	C	A	5: 104,194,946 (GRCm39)	S14*	probably null	Het
Optn	G	A	2: 5,059,461 (GRCm39)	T19I	probably benign	Het
Or11h23	A	T	14: 50,948,215 (GRCm39)	I143F	possibly damaging	Het
Osbpl8	T	A	10: 111,112,370 (GRCm39)	L495*	probably null	Het
Panx2	T	C	15: 88,951,973 (GRCm39)	S147P	possibly damaging	Het
Pclo	T	A	5: 14,730,630 (GRCm39)	V3044D	unknown	Het
Pcnt	T	C	10: 76,258,642 (GRCm39)	K608E	probably benign	Het
Pde7a	T	A	3: 19,281,909 (GRCm39)	N447I	probably damaging	Het
Peli2	G	T	14: 48,517,491 (GRCm39)	C186F	not run	Het
Pgm5	A	G	19: 24,705,215 (GRCm39)	F433L	probably benign	Het
Plce1	G	A	19: 38,736,877 (GRCm39)	V1588I	probably benign	Het
Plin4	T	A	17: 56,409,413 (GRCm39)	H1295L	probably benign	Het
Poli	T	C	18: 70,658,590 (GRCm39)	E134G	probably benign	Het
Pramel11	T	A	4: 143,624,371 (GRCm39)	D42V	probably benign	Het
Ptprq	T	A	10: 107,479,839 (GRCm39)	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,977 (GRCm39)	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,836,267 (GRCm39)	L51P	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhd	T	A	4: 134,611,820 (GRCm39)		probably null	Het
Rpp14	T	C	14: 8,090,453 (GRCm38)	S126P	probably damaging	Het
Scn7a	C	T	2: 66,506,536 (GRCm39)	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 56,135,191 (GRCm39)	R251*	probably null	Het
Sephs2	G	T	7: 126,872,506 (GRCm39)	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,450,085 (GRCm39)	Y195H	possibly damaging	Het
Spg11	C	A	2: 121,899,361 (GRCm39)	V1575F	probably damaging	Het
Sqle	C	T	15: 59,187,890 (GRCm39)	S66L	probably benign	Het
Tas2r124	T	G	6: 132,732,056 (GRCm39)	W122G	probably damaging	Het
Tex52	A	T	6: 128,361,921 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,993,454 (GRCm39)	C604*	probably null	Het
Tmc3	T	C	7: 83,246,666 (GRCm39)	S136P	probably damaging	Het
Tmem212	T	A	3: 27,950,462 (GRCm39)	T11S	probably benign	Het
Ubn2	A	G	6: 38,468,727 (GRCm39)	N1147S	probably benign	Het
Uggt2	A	G	14: 119,312,759 (GRCm39)	I350T	probably damaging	Het
Ust	A	T	10: 8,083,339 (GRCm39)	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,335,740 (GRCm39)	T1399A	probably benign	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,193 (GRCm39)	K257N	probably damaging	Het
Zfp985	T	A	4: 147,667,331 (GRCm39)	D66E	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
R4608: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
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'- ATTTCCCCTTCTGACAGCAG -3'
(R):5'- CAGCACTTCAGAGGATCCAGAC -3'

Sequencing Primer
(F):5'- CACGTTTCAAAATCAGACTTTGG -3'
(R):5'- CTGGGCCATGCATCCTTTGAAG -3'

Posted On

2019-11-12