Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Or13a25'

534569

Institutional Source

Beutler Lab

Gene Symbol

Or13a25

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor family 13 subfamily A member 25

Synonyms

GA_x6K02T2PBJ9-42813436-42814368, Olfr539, MOR253-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140247202-140248161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140248093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 298 (I298L)

Ref Sequence

ENSEMBL: ENSMUSP00000077990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000218865]

AlphaFold

Q8VGL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078967
AA Change: I298L

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: I298L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	316	6.5e-50	PFAM
Pfam:7tm_1	50	299	4.9e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218865
AA Change: I291L

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.7046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,971,718 (GRCm39)	M1T	probably null	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Alox8	T	C	11: 69,077,331 (GRCm39)	Y473C	probably damaging	Het
Alox8	T	C	11: 69,080,715 (GRCm39)	R209G	possibly damaging	Het
Asb5	A	G	8: 55,038,106 (GRCm39)	M210V	probably benign	Het
Atp2c2	T	A	8: 120,461,154 (GRCm39)	L249Q	probably damaging	Het
AU018091	T	G	7: 3,213,986 (GRCm39)	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,162,583 (GRCm39)	K294*	probably null	Het
Baz2b	C	T	2: 59,747,769 (GRCm39)	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,182,296 (GRCm39)	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,069,985 (GRCm39)	I145N	probably benign	Het
Casq2	A	T	3: 101,994,076 (GRCm39)	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,345,833 (GRCm39)	L993P	probably damaging	Het
Cdcp3	A	T	7: 130,798,233 (GRCm39)	I81F	possibly damaging	Het
Cfap44	A	G	16: 44,224,442 (GRCm39)	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,512,144 (GRCm39)	I91F	probably damaging	Het
Crebbp	T	A	16: 3,997,886 (GRCm39)	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,163,467 (GRCm39)	T321A	probably benign	Het
Dido1	A	G	2: 180,304,100 (GRCm39)	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,024,391 (GRCm39)	V174G	probably damaging	Het
Gm20730	G	T	6: 43,058,767 (GRCm39)		probably null	Het
Gm36176	T	C	10: 77,682,976 (GRCm39)		probably benign	Het
Gper1	T	A	5: 139,412,435 (GRCm39)	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,888,817 (GRCm39)	L89P	probably damaging	Het
Katnal1	T	C	5: 148,830,974 (GRCm39)	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Klhl20	T	A	1: 160,932,976 (GRCm39)	E277D	probably benign	Het
Lingo1	T	C	9: 56,527,056 (GRCm39)	Y517C	probably damaging	Het
Lrrk1	C	T	7: 65,992,527 (GRCm39)	E82K	probably benign	Het
Mtor	T	A	4: 148,573,955 (GRCm39)	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,552,965 (GRCm39)	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,805,074 (GRCm39)	T1643I	probably damaging	Het
Or1i2	A	G	10: 78,448,424 (GRCm39)	L17P	probably damaging	Het
Or2y15	A	T	11: 49,350,904 (GRCm39)	T133S	possibly damaging	Het
Or4c10	T	C	2: 89,760,683 (GRCm39)	C177R	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,015 (GRCm39)	V241A	probably benign	Het
Phf11b	T	A	14: 59,565,572 (GRCm39)	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,800,233 (GRCm39)	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,629 (GRCm39)	S352G	probably benign	Het
Ptprh	C	T	7: 4,554,134 (GRCm39)	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,664 (GRCm39)	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,651,058 (GRCm39)		probably null	Het
Rbm20	G	A	19: 53,802,500 (GRCm39)	G336E	probably damaging	Het
Sdsl	T	C	5: 120,600,167 (GRCm39)	I77V	probably benign	Het
Serpina3b	G	A	12: 104,100,341 (GRCm39)	E308K	probably benign	Het
Sfrp5	G	A	19: 42,190,149 (GRCm39)	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,205,835 (GRCm39)	V451I	probably benign	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spg11	C	T	2: 121,890,016 (GRCm39)	A2109T	probably damaging	Het
Stard9	C	T	2: 120,530,324 (GRCm39)	R2194C	probably benign	Het
Tfeb	T	C	17: 48,097,123 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,464,655 (GRCm39)	I128N	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tpr	T	G	1: 150,312,424 (GRCm39)		probably null	Het
Traf3ip1	T	C	1: 91,448,722 (GRCm39)	I456T	probably benign	Het
Ttll4	T	A	1: 74,728,572 (GRCm39)	D892E	probably damaging	Het
Ubr1	T	A	2: 120,727,156 (GRCm39)		probably null	Het
Vmn2r74	T	A	7: 85,606,630 (GRCm39)	I239F	probably benign	Het
Wdfy3	C	T	5: 102,100,865 (GRCm39)	V251M	probably damaging	Het
Xylb	T	A	9: 119,220,820 (GRCm39)	L531H	probably damaging	Het
Zfp960	T	A	17: 17,308,434 (GRCm39)	C383S	probably damaging	Het

Other mutations in Or13a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Or13a25	APN	7	140,247,854 (GRCm39)	missense	probably benign	0.01
IGL01610:Or13a25	APN	7	140,247,584 (GRCm39)	missense	probably damaging	1.00
IGL02959:Or13a25	APN	7	140,247,463 (GRCm39)	missense	probably damaging	1.00
IGL03406:Or13a25	APN	7	140,247,424 (GRCm39)	missense	probably damaging	1.00
R0671:Or13a25	UTSW	7	140,247,590 (GRCm39)	missense	probably damaging	1.00
R1771:Or13a25	UTSW	7	140,248,048 (GRCm39)	missense	probably benign
R1934:Or13a25	UTSW	7	140,247,951 (GRCm39)	nonsense	probably null
R1985:Or13a25	UTSW	7	140,247,734 (GRCm39)	missense	probably damaging	1.00
R2962:Or13a25	UTSW	7	140,247,862 (GRCm39)	missense	probably benign
R4239:Or13a25	UTSW	7	140,247,496 (GRCm39)	missense	probably benign	0.07
R4240:Or13a25	UTSW	7	140,247,496 (GRCm39)	missense	probably benign	0.07
R4360:Or13a25	UTSW	7	140,247,730 (GRCm39)	missense	probably damaging	0.98
R4841:Or13a25	UTSW	7	140,247,502 (GRCm39)	missense	probably damaging	1.00
R4842:Or13a25	UTSW	7	140,247,502 (GRCm39)	missense	probably damaging	1.00
R4851:Or13a25	UTSW	7	140,247,226 (GRCm39)	missense	probably benign
R5325:Or13a25	UTSW	7	140,247,705 (GRCm39)	missense	probably benign	0.33
R5766:Or13a25	UTSW	7	140,247,266 (GRCm39)	missense	probably benign	0.02
R6363:Or13a25	UTSW	7	140,247,995 (GRCm39)	missense	possibly damaging	0.93
R7777:Or13a25	UTSW	7	140,247,854 (GRCm39)	missense	probably benign	0.01
R7920:Or13a25	UTSW	7	140,247,814 (GRCm39)	missense	possibly damaging	0.92
R8134:Or13a25	UTSW	7	140,247,680 (GRCm39)	missense	possibly damaging	0.90
R8712:Or13a25	UTSW	7	140,248,052 (GRCm39)	missense	possibly damaging	0.89
R9095:Or13a25	UTSW	7	140,247,813 (GRCm39)	missense	probably damaging	1.00
R9158:Or13a25	UTSW	7	140,247,547 (GRCm39)	missense	possibly damaging	0.76
R9603:Or13a25	UTSW	7	140,247,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATTGCCAGCATCCTGC -3'
(R):5'- GAATTATCCAGTCCTTGCATCAGAG -3'

Sequencing Primer
(F):5'- CGCATGCGTTCTGCTGAG -3'
(R):5'- AGTCCTTGCATCAGAGAAAGTC -3'

Posted On

2018-09-12