Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Or13a26'

567314

Institutional Source

Beutler Lab

Gene Symbol

Or13a26

Ensembl Gene

ENSMUSG00000057997

Gene Name

olfactory receptor family 13 subfamily A member 26

Synonyms

GA_x6K02T2PBJ9-42850324-42851256, MOR253-3, Olfr541

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140284166-140285104 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140285060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 299 (V299I)

Ref Sequence

ENSEMBL: ENSMUSP00000148238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080681] [ENSMUST00000209857] [ENSMUST00000210357]

AlphaFold

Q8VGM0

Predicted Effect

probably benign
Transcript: ENSMUST00000080681
AA Change: V299I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: V299I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	2.2e-49	PFAM
Pfam:7TM_GPCR_Srsx	37	180	5e-8	PFAM
Pfam:7tm_1	43	292	1.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209857

Predicted Effect

probably benign
Transcript: ENSMUST00000210357
AA Change: V299I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,259 (GRCm39)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,899 (GRCm39)	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949 (GRCm39)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 79,865,016 (GRCm39)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
B4galnt3	T	C	6: 120,192,392 (GRCm39)	D448G	probably benign	Het
Capn1	C	G	19: 6,043,938 (GRCm39)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,349,384 (GRCm39)	S474P	probably benign	Het
Cdk12	T	A	11: 98,140,626 (GRCm39)	L1289*	probably null	Het
Cramp1	A	T	17: 25,193,719 (GRCm39)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,345,143 (GRCm39)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,273,960 (GRCm39)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,396,983 (GRCm39)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,381,601 (GRCm39)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,040,976 (GRCm39)	I932S	probably benign	Het
Frk	T	A	10: 34,467,934 (GRCm39)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,109,349 (GRCm39)	R25C	unknown	Het
Gpat2	T	A	2: 127,276,810 (GRCm39)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,229,672 (GRCm39)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm39)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,314,833 (GRCm39)	S69N	probably damaging	Het
Hid1	A	C	11: 115,239,308 (GRCm39)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,233,093 (GRCm39)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,527,085 (GRCm39)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,554,851 (GRCm39)	R649Q	probably benign	Het
Kif17	A	T	4: 137,989,954 (GRCm39)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,279,896 (GRCm39)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,747,299 (GRCm39)	S3342T	unknown	Het
Krt82	A	G	15: 101,451,342 (GRCm39)	C356R	probably damaging	Het
Lrit2	A	G	14: 36,794,156 (GRCm39)	K407E	probably benign	Het
Malt1	T	A	18: 65,584,640 (GRCm39)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 100,125,108 (GRCm39)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,791,103 (GRCm39)		probably null	Het
Mindy2	T	G	9: 70,518,241 (GRCm39)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,020,953 (GRCm39)	E480G	probably benign	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Or1j4	G	A	2: 36,740,137 (GRCm39)	M26I	probably benign	Het
Or4g7	A	T	2: 111,309,105 (GRCm39)		probably benign	Het
Or52a20	G	T	7: 103,366,173 (GRCm39)	R124L	probably damaging	Het
Pcdhb6	A	T	18: 37,468,531 (GRCm39)	H484L	probably benign	Het
Phldb1	T	C	9: 44,605,344 (GRCm39)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 71,961,790 (GRCm39)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,638,118 (GRCm39)		probably null	Het
Polr3a	A	G	14: 24,510,055 (GRCm39)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Pramel11	A	C	4: 143,623,345 (GRCm39)	Y276*	probably null	Het
Pramel51	A	C	12: 88,148,519 (GRCm39)	C32W	probably damaging	Het
Psmc4	A	G	7: 27,742,085 (GRCm39)	V303A	probably benign	Het
Ptdss2	A	G	7: 140,731,645 (GRCm39)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,465,004 (GRCm39)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,324,283 (GRCm39)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,331,993 (GRCm39)	Y183*	probably null	Het
Rnd1	T	C	15: 98,568,680 (GRCm39)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,464,953 (GRCm39)	C282S	probably damaging	Het
S100b	G	A	10: 76,092,926 (GRCm39)	G20R	probably benign	Het
Sae1	G	T	7: 16,102,469 (GRCm39)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm39)	G1554*	probably null	Het
Samhd1	T	C	2: 156,976,940 (GRCm39)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,421,512 (GRCm39)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,710,986 (GRCm39)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,024,151 (GRCm39)	N67K	probably benign	Het
Smarca4	T	A	9: 21,550,096 (GRCm39)	I402N	probably damaging	Het
St7l	T	C	3: 104,796,669 (GRCm39)	F261L	probably benign	Het
Syde2	T	A	3: 145,721,553 (GRCm39)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,494,788 (GRCm39)	I251N	probably damaging	Het
Taok2	T	C	7: 126,465,990 (GRCm39)	E916G	probably damaging	Het
Tecta	A	G	9: 42,289,288 (GRCm39)	S426P	probably damaging	Het
Thra	T	C	11: 98,655,134 (GRCm39)	I338T	probably damaging	Het
Trub1	A	T	19: 57,461,135 (GRCm39)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,691 (GRCm39)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,567,981 (GRCm39)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,301,682 (GRCm39)	Y100H	probably damaging	Het

Other mutations in Or13a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Or13a26	APN	7	140,284,350 (GRCm39)	missense	probably damaging	1.00
IGL01872:Or13a26	APN	7	140,284,176 (GRCm39)	missense	possibly damaging	0.59
IGL02814:Or13a26	APN	7	140,285,046 (GRCm39)	missense	probably damaging	1.00
R0690:Or13a26	UTSW	7	140,284,700 (GRCm39)	missense	possibly damaging	0.88
R1019:Or13a26	UTSW	7	140,284,407 (GRCm39)	missense	probably damaging	1.00
R1665:Or13a26	UTSW	7	140,284,707 (GRCm39)	missense	probably damaging	1.00
R1696:Or13a26	UTSW	7	140,284,409 (GRCm39)	nonsense	probably null
R4065:Or13a26	UTSW	7	140,284,182 (GRCm39)	missense	probably benign
R4517:Or13a26	UTSW	7	140,285,004 (GRCm39)	missense	probably damaging	1.00
R5549:Or13a26	UTSW	7	140,284,712 (GRCm39)	splice site	probably null
R6327:Or13a26	UTSW	7	140,284,616 (GRCm39)	missense	probably damaging	1.00
R7288:Or13a26	UTSW	7	140,284,942 (GRCm39)	nonsense	probably null
R7454:Or13a26	UTSW	7	140,284,547 (GRCm39)	missense	probably damaging	1.00
R8725:Or13a26	UTSW	7	140,284,607 (GRCm39)	missense	probably benign
R9404:Or13a26	UTSW	7	140,284,722 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAGGCCTTTTCTACCTGC -3'
(R):5'- GGCACAGTCTAATGATACACCATTG -3'

Sequencing Primer
(F):5'- GAAGGCCTTTTCTACCTGCTCATC -3'
(R):5'- GAGTGGAATTGCTCAGTACATGCATC -3'

Posted On

2019-06-26