Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Olfr1375'

366525

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

042415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51048109-51049050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51048480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 124 (R124S)

Ref Sequence

ENSEMBL: ENSMUSP00000144756 (fasta)

Gene Model

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

AlphaFold

A0A0N4SUP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073543
AA Change: R124S

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

SMART Domains

Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: R124S

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: R124S

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

SMART Domains

Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: R124S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,571,651 (GRCm38)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,760,724 (GRCm38)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,046,495 (GRCm38)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,508,175 (GRCm38)	K197*	probably null	Het
Ankrd65	C	T	4: 155,793,036 (GRCm38)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,943,856 (GRCm38)	L636Q	probably damaging	Het
BC147527	A	C	13: 120,308,162 (GRCm38)	K6T	possibly damaging	Het
Camk1g	G	T	1: 193,356,344 (GRCm38)	T90N	probably benign	Het
Cd177	C	A	7: 24,750,626 (GRCm38)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,412,201 (GRCm38)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,386,236 (GRCm38)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,819,093 (GRCm38)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,456,112 (GRCm38)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,425,208 (GRCm38)	F3675L	probably benign	Het
Dram2	T	A	3: 106,571,676 (GRCm38)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm38)	P297L	probably benign	Het
Eif3i	T	C	4: 129,595,273 (GRCm38)	S83G	probably benign	Het
Gabra1	G	A	11: 42,133,661 (GRCm38)	P396S	probably damaging	Het
Gipr	T	A	7: 19,157,375 (GRCm38)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,724,711 (GRCm38)		noncoding transcript	Het
Gm6981	T	C	9: 52,002,756 (GRCm38)		noncoding transcript	Het
Grin2d	T	C	7: 45,862,481 (GRCm38)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,306,107 (GRCm38)		probably null	Het
Hhat	T	C	1: 192,686,979 (GRCm38)		probably benign	Het
Hoxa6	A	G	6: 52,206,420 (GRCm38)	L215P	possibly damaging	Het
Hsf4	G	A	8: 105,274,752 (GRCm38)		probably null	Het
Igf1r	G	A	7: 68,165,199 (GRCm38)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,856 (GRCm38)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,478,005 (GRCm38)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,443,825 (GRCm38)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,687,377 (GRCm38)		probably benign	Het
Mdga2	A	G	12: 66,797,622 (GRCm38)		probably null	Het
Mefv	G	A	16: 3,715,334 (GRCm38)	P358S	probably benign	Het
Mrgpra9	A	G	7: 47,235,047 (GRCm38)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,488,435 (GRCm38)	L673P	probably benign	Het
Muc19	T	C	15: 91,903,166 (GRCm38)		noncoding transcript	Het
Myo5b	A	T	18: 74,744,681 (GRCm38)	T1584S	possibly damaging	Het
Olfr1427	T	C	19: 12,099,367 (GRCm38)	T91A	probably benign	Het
Palld	G	T	8: 61,877,028 (GRCm38)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,687,130 (GRCm38)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,300,424 (GRCm38)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,291,709 (GRCm38)	A400V	probably benign	Het
Rnf150	A	G	8: 82,864,152 (GRCm38)	Y48C	probably damaging	Het
Rpl11	G	T	4: 136,050,288 (GRCm38)	Q170K	probably benign	Het
Scin	G	A	12: 40,081,764 (GRCm38)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,703,760 (GRCm38)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,983,785 (GRCm38)	L581S	probably benign	Het
Skor1	T	C	9: 63,144,459 (GRCm38)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,790,135 (GRCm38)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,182,681 (GRCm38)	Y923C	probably damaging	Het
Src	T	A	2: 157,467,485 (GRCm38)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,757,425 (GRCm38)		probably benign	Het
Stard3	G	A	11: 98,372,334 (GRCm38)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm38)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,218,415 (GRCm38)	K20R	possibly damaging	Het
Tfip11	G	A	5: 112,333,399 (GRCm38)	E414K	probably damaging	Het
Tinag	G	T	9: 76,996,950 (GRCm38)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,510,438 (GRCm38)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm38)	I164N	probably damaging	Het
Trpm1	A	G	7: 64,235,052 (GRCm38)	D827G	probably benign	Het
Ube2u	A	T	4: 100,486,658 (GRCm38)	T85S	probably benign	Het
Ulk4	T	C	9: 121,103,576 (GRCm38)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,737,861 (GRCm38)	I832F	probably benign	Het
Yipf1	A	C	4: 107,336,158 (GRCm38)	E80D	probably benign	Het
Zfp40	T	A	17: 23,175,655 (GRCm38)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,372,553 (GRCm38)	T308A	probably damaging	Het

Other mutations in Olfr1375

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Olfr1375	APN	11	51,048,400 (GRCm38)	missense	probably benign	0.00
R0268:Olfr1375	UTSW	11	51,048,941 (GRCm38)	missense	probably damaging	1.00
R0462:Olfr1375	UTSW	11	51,048,509 (GRCm38)	missense	probably damaging	1.00
R0478:Olfr1375	UTSW	11	51,048,712 (GRCm38)	missense	probably benign	0.03
R0839:Olfr1375	UTSW	11	51,048,427 (GRCm38)	missense	probably benign	0.06
R2517:Olfr1375	UTSW	11	51,048,473 (GRCm38)	missense	probably damaging	1.00
R4688:Olfr1375	UTSW	11	51,048,988 (GRCm38)	missense	probably damaging	1.00
R5396:Olfr1375	UTSW	11	51,048,470 (GRCm38)	missense	probably damaging	1.00
R6163:Olfr1375	UTSW	11	51,048,768 (GRCm38)	nonsense	probably null
R6739:Olfr1375	UTSW	11	51,048,737 (GRCm38)	missense	probably damaging	0.97
R7344:Olfr1375	UTSW	11	51,048,295 (GRCm38)	missense	probably damaging	1.00
R7994:Olfr1375	UTSW	11	51,048,140 (GRCm38)	missense	probably benign	0.31
R8054:Olfr1375	UTSW	11	51,048,263 (GRCm38)	missense	probably benign	0.22
R8129:Olfr1375	UTSW	11	51,048,383 (GRCm38)	missense	probably benign	0.00
R8940:Olfr1375	UTSW	11	51,048,628 (GRCm38)	missense	probably benign	0.01
R9005:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9008:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9016:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9018:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9028:Olfr1375	UTSW	11	51,048,833 (GRCm38)	missense	probably damaging	1.00
R9051:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9052:Olfr1375	UTSW	11	51,048,111 (GRCm38)	start codon destroyed	probably null	0.18
R9203:Olfr1375	UTSW	11	51,048,334 (GRCm38)	missense	possibly damaging	0.82
R9364:Olfr1375	UTSW	11	51,048,396 (GRCm38)	nonsense	probably null
R9376:Olfr1375	UTSW	11	51,048,835 (GRCm38)	missense	probably damaging	1.00
R9554:Olfr1375	UTSW	11	51,048,396 (GRCm38)	nonsense	probably null
R9641:Olfr1375	UTSW	11	51,048,380 (GRCm38)	missense	probably benign	0.34
Z1176:Olfr1375	UTSW	11	51,048,835 (GRCm38)	missense	probably damaging	1.00
Z1177:Olfr1375	UTSW	11	51,048,526 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGAACACACTCATCTTCCTG -3'
(R):5'- AGGCCAACTTCATGAGCAGG -3'

Sequencing Primer
(F):5'- GGCCATCATCTCCGACCC -3'
(R):5'- TTCATGAGCAGGTAAGCATCAC -3'

Posted On

2015-12-29