Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Or10am5'

606730

Institutional Source

Beutler Lab

Gene Symbol

Or10am5

Ensembl Gene

ENSMUSG00000048067

Gene Name

olfactory receptor family 10 subfamily AM member 5

Synonyms

Olfr1349, MOR232-8, GA_x6K02T2QGBW-3245761-3244808

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6517198-6523354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6517861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000151168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051982] [ENSMUST00000207043] [ENSMUST00000207075] [ENSMUST00000207820] [ENSMUST00000213504] [ENSMUST00000213656] [ENSMUST00000216447]

AlphaFold

Q7TQV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051982
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056639
Gene: ENSMUSG00000048067
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	317	1.9e-47	PFAM
Pfam:7tm_1	50	299	3.3e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207043
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207075

Predicted Effect

probably damaging
Transcript: ENSMUST00000207820
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213504
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213656
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216447
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col26a1	T	C	5: 136,775,907 (GRCm39)	K349E	possibly damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fhad1	A	T	4: 141,632,913 (GRCm39)	M1197K	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nufip1	G	A	14: 76,351,661 (GRCm39)	R172H	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Ttll1	T	C	15: 83,381,573 (GRCm39)	E232G	probably damaging	Het
Zfp442	T	C	2: 150,253,146 (GRCm39)	N39D	possibly damaging	Het

Other mutations in Or10am5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Or10am5	APN	7	6,517,577 (GRCm39)	missense	probably damaging	1.00
IGL02350:Or10am5	APN	7	6,518,225 (GRCm39)	missense	probably damaging	1.00
IGL02357:Or10am5	APN	7	6,518,225 (GRCm39)	missense	probably damaging	1.00
IGL02955:Or10am5	APN	7	6,517,682 (GRCm39)	missense	probably damaging	1.00
R0593:Or10am5	UTSW	7	6,517,808 (GRCm39)	missense	probably benign	0.00
R2311:Or10am5	UTSW	7	6,517,741 (GRCm39)	missense	probably benign
R2396:Or10am5	UTSW	7	6,517,784 (GRCm39)	missense	probably damaging	0.98
R3699:Or10am5	UTSW	7	6,517,993 (GRCm39)	missense	probably damaging	0.99
R4095:Or10am5	UTSW	7	6,518,252 (GRCm39)	missense	possibly damaging	0.94
R5009:Or10am5	UTSW	7	6,517,546 (GRCm39)	missense	probably damaging	0.99
R6818:Or10am5	UTSW	7	6,517,550 (GRCm39)	missense	probably damaging	0.99
R7248:Or10am5	UTSW	7	6,517,520 (GRCm39)	missense	probably damaging	1.00
R7697:Or10am5	UTSW	7	6,517,645 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCACTATGAGATGGGAGGCG -3'
(R):5'- TTCTCATGGTCATGGCCTGG -3'

Sequencing Primer
(F):5'- AGGTGGACAGGGCCTTG -3'
(R):5'- GGGATCGCTTTCTGGCCATC -3'

Posted On

2019-12-20