Mutagenetix > Incidental Mutations

Incidental Mutation 'R5574:Olfr1100'

437088

Institutional Source

Beutler Lab

Gene Symbol

Olfr1100

Ensembl Gene

ENSMUSG00000070875

Gene Name

olfactory receptor 1100

Synonyms

GA_x6K02T2Q125-48465387-48464422, MOR206-4

MMRRC Submission

043129-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86976029-86979954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86978523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000151088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094913] [ENSMUST00000117211]

AlphaFold

Q8VFM1

Predicted Effect

probably benign
Transcript: ENSMUST00000094913
AA Change: V91A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092517
Gene: ENSMUSG00000070875
AA Change: V91A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-51	PFAM
Pfam:7tm_1	41	314	2.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117211
AA Change: V91A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly damaging	Het

Other mutations in Olfr1100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Olfr1100	APN	2	86977849	nonsense	probably null
R0102:Olfr1100	UTSW	2	86978205	missense	possibly damaging	0.90
R0477:Olfr1100	UTSW	2	86978223	missense	probably damaging	0.99
R0586:Olfr1100	UTSW	2	86978782	missense	probably damaging	0.99
R0743:Olfr1100	UTSW	2	86978499	missense	probably benign	0.12
R1163:Olfr1100	UTSW	2	86978676	missense	probably damaging	1.00
R1640:Olfr1100	UTSW	2	86978619	missense	probably damaging	1.00
R2865:Olfr1100	UTSW	2	86978461	missense	possibly damaging	0.56
R4478:Olfr1100	UTSW	2	86978218	missense	probably benign
R4548:Olfr1100	UTSW	2	86978670	missense	probably damaging	0.98
R4618:Olfr1100	UTSW	2	86978274	missense	possibly damaging	0.87
R4829:Olfr1100	UTSW	2	86978574	missense	probably damaging	0.99
R4858:Olfr1100	UTSW	2	86978349	missense	probably damaging	1.00
R5071:Olfr1100	UTSW	2	86978322	missense	possibly damaging	0.88
R5072:Olfr1100	UTSW	2	86978322	missense	possibly damaging	0.88
R5073:Olfr1100	UTSW	2	86978322	missense	possibly damaging	0.88
R5074:Olfr1100	UTSW	2	86978322	missense	possibly damaging	0.88
R5735:Olfr1100	UTSW	2	86978700	missense	probably benign	0.08
R5874:Olfr1100	UTSW	2	86978442	missense	probably damaging	0.99
R6228:Olfr1100	UTSW	2	86978691	missense	probably damaging	1.00
R6689:Olfr1100	UTSW	2	86978154	missense	probably benign	0.36
R6979:Olfr1100	UTSW	2	86978233	missense	probably damaging	1.00
R7006:Olfr1100	UTSW	2	86977959	missense	probably damaging	0.99
R7274:Olfr1100	UTSW	2	86978523	missense	probably benign	0.00
R7399:Olfr1100	UTSW	2	86978157	missense	probably benign	0.19
R7560:Olfr1100	UTSW	2	86978778	missense	probably benign	0.00
R7765:Olfr1100	UTSW	2	86978194	missense	probably damaging	0.98
R8381:Olfr1100	UTSW	2	86978029	missense	probably benign	0.36
R8390:Olfr1100	UTSW	2	86978157	missense	probably benign	0.19
R8694:Olfr1100	UTSW	2	86978247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGGTTCTGCAGAAATATAAGGTG -3'
(R):5'- ATATACCTGGTCACTGTGCTGG -3'

Sequencing Primer
(F):5'- GTTCCAATCATATAGGAACCAGTGAG -3'
(R):5'- TCACTGTGCTGGGGAACG -3'

Posted On

2016-10-26