Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Or5t7'

57737

Institutional Source

Beutler Lab

Gene Symbol

Or5t7

Ensembl Gene

ENSMUSG00000075175

Gene Name

olfactory receptor family 5 subfamily T member 17

Synonyms

GA_x6K02T2Q125-48168771-48167839, MOR179-2, Olfr1086

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86506743-86507683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86506873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 268 (H268L)

Ref Sequence

ENSEMBL: ENSMUSP00000150094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099878] [ENSMUST00000213198]

AlphaFold

Q8VFL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099878
AA Change: H268L

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097463
Gene: ENSMUSG00000075175
AA Change: H268L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.3e-49	PFAM
Pfam:7tm_1	39	288	1.4e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213198
AA Change: H268L

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.5091

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,486,673 (GRCm39)	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Fmo3	A	G	1: 162,785,796 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,581,951 (GRCm39)	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or2aj4	A	T	16: 19,384,730 (GRCm39)	V301E	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	Het

Other mutations in Or5t7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Or5t7	APN	2	86,507,425 (GRCm39)	missense	probably benign	0.00
R0492:Or5t7	UTSW	2	86,506,834 (GRCm39)	missense	probably damaging	1.00
R1114:Or5t7	UTSW	2	86,507,629 (GRCm39)	missense	possibly damaging	0.72
R1341:Or5t7	UTSW	2	86,507,507 (GRCm39)	missense	possibly damaging	0.86
R1868:Or5t7	UTSW	2	86,507,629 (GRCm39)	missense	possibly damaging	0.72
R2183:Or5t7	UTSW	2	86,507,380 (GRCm39)	missense	probably benign	0.21
R3159:Or5t7	UTSW	2	86,506,855 (GRCm39)	missense	probably benign	0.03
R4061:Or5t7	UTSW	2	86,507,162 (GRCm39)	missense	probably damaging	1.00
R4420:Or5t7	UTSW	2	86,507,263 (GRCm39)	missense	possibly damaging	0.95
R5514:Or5t7	UTSW	2	86,507,225 (GRCm39)	missense	probably benign	0.03
R7066:Or5t7	UTSW	2	86,507,570 (GRCm39)	missense	possibly damaging	0.95
R7077:Or5t7	UTSW	2	86,507,236 (GRCm39)	missense	possibly damaging	0.78
R7246:Or5t7	UTSW	2	86,507,633 (GRCm39)	missense	probably benign	0.11
R7383:Or5t7	UTSW	2	86,507,263 (GRCm39)	missense	possibly damaging	0.95
R8062:Or5t7	UTSW	2	86,507,410 (GRCm39)	missense	probably benign	0.01
R8271:Or5t7	UTSW	2	86,507,218 (GRCm39)	missense	probably benign	0.12
R8417:Or5t7	UTSW	2	86,507,149 (GRCm39)	missense	probably damaging	1.00
R8927:Or5t7	UTSW	2	86,507,630 (GRCm39)	missense	probably benign	0.31
R8928:Or5t7	UTSW	2	86,507,630 (GRCm39)	missense	probably benign	0.31
R9029:Or5t7	UTSW	2	86,506,831 (GRCm39)	missense	probably damaging	1.00
R9342:Or5t7	UTSW	2	86,507,494 (GRCm39)	missense	probably damaging	1.00
R9384:Or5t7	UTSW	2	86,507,357 (GRCm39)	missense	probably benign	0.21
X0064:Or5t7	UTSW	2	86,507,543 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGTCTTTCAAATGTGTGACCACT -3'
(R):5'- TGATTGTCCTGCTGTCCTATGGCTT -3'

Sequencing Primer
(F):5'- ACAGGAGAGGCATTAACTAATACC -3'
(R):5'- GCTGTCCTATGGCTTCATTTTG -3'

Posted On

2013-07-11