Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Olfr1112'

589178

Institutional Source

Beutler Lab

Gene Symbol

Olfr1112

Ensembl Gene

ENSMUSG00000044487

Gene Name

olfactory receptor 1112

Synonyms

GA_x6K02T2Q125-48676316-48677272, MOR264-6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87187798-87192767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87192250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 188 (I188L)

Ref Sequence

ENSEMBL: ENSMUSP00000149960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053050] [ENSMUST00000216772]

AlphaFold

A2ATA0

Predicted Effect

probably benign
Transcript: ENSMUST00000053050
AA Change: I188L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: I188L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	2.4e-52	PFAM
Pfam:7tm_1	48	297	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216772
AA Change: I188L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,948,413	C1502*	probably null	Het
Adgrd1	G	A	5: 129,139,624	D384N	probably benign	Het
Aqp8	T	C	7: 123,466,660	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,217,327	Y207C	probably damaging	Het
Cbfa2t2	A	G	2: 154,500,445	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,294,772	E201A	unknown	Het
Cfap54	A	C	10: 92,956,944	V1769G	unknown	Het
Dmxl2	C	T	9: 54,472,218	G7S	probably damaging	Het
Dnah6	G	T	6: 73,124,759	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,640,491	E942G	probably damaging	Het
Fam170a	A	G	18: 50,282,902	R324G	probably benign	Het
Gapdhs	G	A	7: 30,739,331	T9I	unknown	Het
Gm10320	T	A	13: 98,489,724	R51*	probably null	Het
Gm19410	A	T	8: 35,810,347	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,495,872	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,685,738	Q32*	probably null	Het
Klc2	T	C	19: 5,111,632	E310G	probably damaging	Het
Krt75	A	G	15: 101,570,272	M309T	probably damaging	Het
Lrp11	G	A	10: 7,590,172	G41R	unknown	Het
Lrrc52	G	T	1: 167,466,095	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,466,096	P207T	probably benign	Het
Lrrk2	A	T	15: 91,812,323	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,905,301	T28M	probably damaging	Het
Myh14	A	G	7: 44,632,422	V804A	probably benign	Het
Myo16	A	G	8: 10,376,238	I332V	unknown	Het
Ncor1	G	T	11: 62,317,968	Q1359K	probably benign	Het
Olfr1055	A	G	2: 86,347,662	Y35H	possibly damaging	Het
Olfr50	A	G	2: 36,793,931	K232E	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Oog3	T	C	4: 144,158,319	D349G	probably benign	Het
Pate4	A	G	9: 35,608,299	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,342,461	S217R	probably benign	Het
Pde1c	G	A	6: 56,126,925	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,293,977	A1545S		Het
Pign	G	T	1: 105,648,117	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,122,027	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,830,659	V409I	possibly damaging	Het
Prr7	A	G	13: 55,472,796	T206A	probably benign	Het
Rnf13	A	T	3: 57,820,534	R212*	probably null	Het
Rwdd2b	T	C	16: 87,434,612	N218S	probably benign	Het
Serpina3m	A	G	12: 104,389,575	D167G	possibly damaging	Het
Slit2	A	T	5: 47,985,205	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,457,285	T84K	probably damaging	Het
Stab2	A	T	10: 86,873,902	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,546,895	D650Y	unknown	Het
Tmprss6	A	G	15: 78,446,726	S436P	probably benign	Het
Uba2	A	C	7: 34,165,435	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692	S242L	probably damaging	Het
Vmn1r86	T	G	7: 13,102,758	I64L	probably benign	Het
Vmn2r67	A	T	7: 85,136,454	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,194,263	F641Y	probably damaging	Het
Wdfy4	A	T	14: 33,078,274	I1965K		Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Wdr90	G	T	17: 25,854,109	F837L	probably benign	Het
Xpo4	A	G	14: 57,597,011	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,867,269	K268E	probably damaging	Het

Other mutations in Olfr1112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Olfr1112	APN	2	87191848	missense	probably benign	0.00
R0665:Olfr1112	UTSW	2	87192308	missense	probably damaging	1.00
R1698:Olfr1112	UTSW	2	87191737	missense	probably benign	0.00
R1717:Olfr1112	UTSW	2	87191903	missense	probably benign	0.38
R1768:Olfr1112	UTSW	2	87191698	missense	probably benign
R1872:Olfr1112	UTSW	2	87191878	missense	possibly damaging	0.96
R3441:Olfr1112	UTSW	2	87191818	missense	probably benign	0.00
R4017:Olfr1112	UTSW	2	87192502	missense	probably benign	0.03
R4895:Olfr1112	UTSW	2	87191848	missense	probably benign	0.00
R5451:Olfr1112	UTSW	2	87192452	missense	probably damaging	1.00
R6171:Olfr1112	UTSW	2	87192365	missense	possibly damaging	0.77
R6851:Olfr1112	UTSW	2	87192469	missense	probably benign	0.37
R7263:Olfr1112	UTSW	2	87192132	nonsense	probably null
R7659:Olfr1112	UTSW	2	87192365	missense	possibly damaging	0.77
R7798:Olfr1112	UTSW	2	87192292	missense	probably benign	0.00
R7880:Olfr1112	UTSW	2	87192090	nonsense	probably null
R8430:Olfr1112	UTSW	2	87192220	missense	possibly damaging	0.70
R8503:Olfr1112	UTSW	2	87192309	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCCACTGAGTGCTTTATTC -3'
(R):5'- CATGTAGAGAAGGCCTTGGCTC -3'

Sequencing Primer
(F):5'- ACGGCTATGGCTTATGACAG -3'
(R):5'- TCTCCCAGTTGCAGATGGAAG -3'

Posted On

2019-10-24