Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Olfr1375'

686884

Institutional Source

Beutler Lab

Gene Symbol

Olfr1375

Ensembl Gene

ENSMUSG00000057890

Gene Name

olfactory receptor 1375

Synonyms

GA_x6K02T2QP88-4389999-4389056, MOR126-2, Olfr1375-ps1

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51048109-51049050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51048833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 242 (T242M)

Ref Sequence

ENSEMBL: ENSMUSP00000144756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073543]

AlphaFold

A0A0N4SUP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073543
AA Change: T242M

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

SMART Domains

Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: T242M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.4e-60	PFAM
Pfam:7TM_GPCR_Srsx	37	306	3.9e-6	PFAM
Pfam:7tm_1	43	291	9.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073543
AA Change: T242M

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

SMART Domains

Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: T242M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.4e-60	PFAM
Pfam:7TM_GPCR_Srsx	37	306	3.9e-6	PFAM
Pfam:7tm_1	43	291	9.5e-26	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,463,503	T687I	probably benign	Het
Aasdh	A	G	5: 76,876,130	V1066A	probably damaging	Het
Abca5	T	A	11: 110,298,078	H851L	probably damaging	Het
Actn2	T	C	13: 12,300,978	I218M	possibly damaging	Het
Afmid	G	A	11: 117,836,663	E338K	probably benign	Het
Amer3	G	A	1: 34,588,677	V666I	probably benign	Het
Apol7b	A	G	15: 77,423,416	V293A	probably damaging	Het
Bag6	T	A	17: 35,144,154	S657T	probably benign	Het
Btaf1	T	C	19: 36,969,108	L438P	probably damaging	Het
Cdc20	T	C	4: 118,436,560	E126G	probably benign	Het
Cep97	C	T	16: 55,919,552	W248*	probably null	Het
Cfap69	A	T	5: 5,646,958	S113T	probably benign	Het
Cgrrf1	C	A	14: 46,853,743	D241E	probably benign	Het
Cnksr1	T	C	4: 134,233,297	T280A	possibly damaging	Het
Cox4i1	T	A	8: 120,671,283		probably benign	Het
Cpm	T	A	10: 117,683,509	F441I	probably benign	Het
Cs	A	C	10: 128,353,083	M154L		Het
Dmrta1	T	A	4: 89,691,677	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,521,138	T2125A	probably benign	Het
Dock10	A	T	1: 80,606,295		probably benign	Het
Dok7	A	G	5: 35,079,475	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,548	Y225C	probably damaging	Het
F7	T	C	8: 13,026,087	L10P	possibly damaging	Het
Faf1	C	A	4: 109,890,908	T470K	possibly damaging	Het
Fam83h	A	T	15: 76,003,889	L533Q	possibly damaging	Het
Far1	T	A	7: 113,547,422	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,159,154	Y219H	probably damaging	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Gaa	T	A	11: 119,270,381	D83E	probably benign	Het
Gm6970	T	C	19: 47,170,690	K149E	unknown	Het
Grm2	A	G	9: 106,651,185	S167P	possibly damaging	Het
Hibch	T	C	1: 52,853,709	L26P	possibly damaging	Het
Hspa9	T	C	18: 34,942,031	E415G	probably damaging	Het
Ipo4	T	C	14: 55,628,951	Y757C	probably damaging	Het
Itk	T	A	11: 46,344,883		probably benign	Het
Kdm5a	C	T	6: 120,439,131	P1671S	probably benign	Het
Kif13a	G	A	13: 46,798,365	P811S	probably damaging	Het
Kif23	T	C	9: 61,921,059	E857G	probably damaging	Het
Kif2b	A	G	11: 91,577,185	S91P	probably benign	Het
Letm1	G	T	5: 33,752,503	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,497,973	M247K		Het
Mga	A	G	2: 119,947,589	I1872V	probably benign	Het
Mmp15	A	T	8: 95,369,688	N369I	probably benign	Het
Myo3a	T	A	2: 22,600,087	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,507,436	T855A		Het
Ncoa2	A	G	1: 13,152,855	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,453,571	C254*	probably null	Het
Nlrp1a	C	T	11: 71,122,993	R477H	probably benign	Het
Nox3	T	A	17: 3,665,910	T407S	possibly damaging	Het
Olfr1229	T	A	2: 89,282,332	D267V	probably damaging	Het
Olfr411	T	C	11: 74,346,921	Y101C	probably damaging	Het
Pfkp	T	A	13: 6,605,689	I303F	probably damaging	Het
Pgc	T	C	17: 47,733,058	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,794,375	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,816,897	N1613D	probably damaging	Het
Prpmp5	C	T	6: 132,312,655	E69K	unknown	Het
Rapgef2	A	G	3: 79,074,344	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,649,690	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,460,398	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,726,452	I334N	probably damaging	Het
Slk	T	G	19: 47,620,073	N488K	probably benign	Het
Smarca5	T	C	8: 80,714,013	I607M	probably damaging	Het
Sspo	G	A	6: 48,496,153	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,922,111	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,005,201	H78R	probably benign	Het
Trav14-3	C	A	14: 53,763,430	Q33K	unknown	Het
Ubtd2	T	C	11: 32,499,432	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,089,344		probably null	Het
Vmn1r224	T	G	17: 20,419,850	S230A	possibly damaging	Het
Wee2	A	T	6: 40,444,255	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,961,073	E279G	probably damaging	Het
Zfp623	T	A	15: 75,947,500	F102I	probably damaging	Het
Zfpm2	A	C	15: 41,103,362	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,772,189		probably benign	Het

Other mutations in Olfr1375

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Olfr1375	APN	11	51048400	missense	probably benign	0.00
R0268:Olfr1375	UTSW	11	51048941	missense	probably damaging	1.00
R0462:Olfr1375	UTSW	11	51048509	missense	probably damaging	1.00
R0478:Olfr1375	UTSW	11	51048712	missense	probably benign	0.03
R0839:Olfr1375	UTSW	11	51048427	missense	probably benign	0.06
R2517:Olfr1375	UTSW	11	51048473	missense	probably damaging	1.00
R4688:Olfr1375	UTSW	11	51048988	missense	probably damaging	1.00
R4781:Olfr1375	UTSW	11	51048480	missense	probably damaging	1.00
R5396:Olfr1375	UTSW	11	51048470	missense	probably damaging	1.00
R6163:Olfr1375	UTSW	11	51048768	nonsense	probably null
R6739:Olfr1375	UTSW	11	51048737	missense	probably damaging	0.97
R7344:Olfr1375	UTSW	11	51048295	missense	probably damaging	1.00
R7994:Olfr1375	UTSW	11	51048140	missense	probably benign	0.31
R8054:Olfr1375	UTSW	11	51048263	missense	probably benign	0.22
R8129:Olfr1375	UTSW	11	51048383	missense	probably benign	0.00
R8940:Olfr1375	UTSW	11	51048628	missense	probably benign	0.01
R9005:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9008:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9016:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9018:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9051:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9052:Olfr1375	UTSW	11	51048111	start codon destroyed	probably null	0.18
R9203:Olfr1375	UTSW	11	51048334	missense	possibly damaging	0.82
R9364:Olfr1375	UTSW	11	51048396	nonsense	probably null
R9376:Olfr1375	UTSW	11	51048835	missense	probably damaging	1.00
R9554:Olfr1375	UTSW	11	51048396	nonsense	probably null
R9641:Olfr1375	UTSW	11	51048380	missense	probably benign	0.34
Z1176:Olfr1375	UTSW	11	51048835	missense	probably damaging	1.00
Z1177:Olfr1375	UTSW	11	51048526	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGCTCATGAAGTTGGCC -3'
(R):5'- TATGCACCATGCTAAGAGGGC -3'

Sequencing Primer
(F):5'- CTCATGAAGTTGGCCTGCTCG -3'
(R):5'- AGTCTCTGTTGAGGATCCTTGTCAC -3'

Posted On

2021-11-19