Mutagenetix > Incidental Mutation

Incidental Mutation 'R9008:Or1x6'

685444

Institutional Source

Beutler Lab

Gene Symbol

Or1x6

Ensembl Gene

ENSMUSG00000057890

Gene Name

olfactory receptor family 1 subfamily X member 6

Synonyms

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

MMRRC Submission

068838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50938936-50939877 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to A at 50938938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000144756 (fasta)

Gene Model

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

AlphaFold

A0A0N4SUP0

Predicted Effect

probably null
Transcript: ENSMUST00000073543
AA Change: M1I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: M1I

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 null
Transcript: ENSMUST00000073543
AA Change: M1I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: M1I

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (78/80)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,849,162 (GRCm39)	S536R	probably damaging	Het
Acacb	G	A	5: 114,386,815 (GRCm39)		silent	Het
Acsm1	T	C	7: 119,258,325 (GRCm39)	Y473H	probably benign	Het
Adam30	T	A	3: 98,070,034 (GRCm39)	C622*	probably null	Het
Adprs	C	T	4: 126,210,632 (GRCm39)	V283M	probably damaging	Het
AI606181	G	T	19: 41,582,032 (GRCm39)	R67S	unknown	Het
Btbd3	A	G	2: 138,125,453 (GRCm39)	I212M	probably benign	Het
C1s1	C	T	6: 124,509,499 (GRCm39)		probably null	Het
C7	T	A	15: 5,040,409 (GRCm39)	T539S		Het
Cd5l	A	C	3: 87,275,972 (GRCm39)	D314A	probably damaging	Het
Celsr3	T	A	9: 108,706,151 (GRCm39)	V878E	possibly damaging	Het
Cfap74	T	C	4: 155,503,121 (GRCm39)	S38P		Het
Chst2	C	T	9: 95,288,347 (GRCm39)		probably benign	Het
Deaf1	T	C	7: 140,904,078 (GRCm39)	T103A	probably damaging	Het
Deup1	T	A	9: 15,511,140 (GRCm39)	D213V	probably damaging	Het
Dhrs1	A	G	14: 55,978,638 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,701,501 (GRCm39)	V218A	possibly damaging	Het
Dock7	G	A	4: 98,833,448 (GRCm39)	Q1950*	probably null	Het
Ehf	G	A	2: 103,097,173 (GRCm39)	R283W		Het
Elovl3	A	T	19: 46,123,087 (GRCm39)	N221I	possibly damaging	Het
Gm11938	A	T	11: 99,493,966 (GRCm39)	V43E	probably damaging	Het
Hmcn1	T	C	1: 150,630,795 (GRCm39)		probably benign	Het
Hnf4g	A	G	3: 3,708,096 (GRCm39)	N115S	probably benign	Het
Hnrnpr	A	T	4: 136,056,737 (GRCm39)	N246Y	probably damaging	Het
Itpka	A	G	2: 119,579,894 (GRCm39)	E211G	probably damaging	Het
Krt78	TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	15: 101,855,211 (GRCm39)		probably benign	Het
Lcorl	A	T	5: 45,931,516 (GRCm39)		probably benign	Het
Lypd9	T	A	11: 58,338,209 (GRCm39)	E61V	probably benign	Het
Mgat5	T	C	1: 127,407,308 (GRCm39)	I658T	probably damaging	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mov10	A	G	3: 104,707,332 (GRCm39)	Y606H	probably benign	Het
Naa38	T	G	11: 69,287,148 (GRCm39)	V76G	probably damaging	Het
Nelfe	C	A	17: 35,073,334 (GRCm39)	P290T	possibly damaging	Het
Nfil3	A	T	13: 53,121,609 (GRCm39)	Y432N	probably damaging	Het
Nipbl	T	C	15: 8,356,608 (GRCm39)	K1593E	probably damaging	Het
Nlrc3	G	C	16: 3,776,807 (GRCm39)	L56V	possibly damaging	Het
Nlrp1a	A	T	11: 71,014,735 (GRCm39)	F172I	possibly damaging	Het
Ntn4	T	A	10: 93,569,466 (GRCm39)		probably benign	Het
Nudt2	G	A	4: 41,480,288 (GRCm39)	R57Q	probably damaging	Het
Obsl1	A	C	1: 75,482,027 (GRCm39)	L281W	probably benign	Het
Olfm4	A	T	14: 80,255,607 (GRCm39)	N250I	unknown	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Or2m13	T	A	16: 19,226,173 (GRCm39)	I198F	probably benign	Het
Or2r2	T	C	6: 42,463,903 (GRCm39)	S75G	probably damaging	Het
Or5p50	A	G	7: 107,422,628 (GRCm39)	I16T	possibly damaging	Het
Pappa	A	T	4: 65,074,426 (GRCm39)	T327S	probably damaging	Het
Pcdhb4	T	G	18: 37,440,714 (GRCm39)	M8R	probably benign	Het
Phf21b	T	A	15: 84,671,563 (GRCm39)	I444F	probably damaging	Het
Pkd1l2	A	C	8: 117,769,037 (GRCm39)	V1205G	probably benign	Het
Plec	T	C	15: 76,060,232 (GRCm39)	Y3235C	probably damaging	Het
Pnmt	C	T	11: 98,278,832 (GRCm39)	T266I	possibly damaging	Het
Ppfia2	T	A	10: 106,655,220 (GRCm39)	D262E	probably benign	Het
Rabggta	A	T	14: 55,955,913 (GRCm39)	L448Q	probably damaging	Het
Rap1gds1	C	T	3: 138,661,177 (GRCm39)	R449H	probably benign	Het
Rictor	T	A	15: 6,801,610 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,027,556 (GRCm39)	F557S	probably damaging	Het
Ryr3	A	G	2: 112,465,748 (GRCm39)	C4809R	probably damaging	Het
Sacs	A	C	14: 61,441,992 (GRCm39)	D1346A	probably benign	Het
Slain1	T	A	14: 103,923,191 (GRCm39)	S261T	probably damaging	Het
Slc22a4	C	T	11: 53,881,664 (GRCm39)	W351*	probably null	Het
Smpd3	C	T	8: 106,984,058 (GRCm39)	G554S	probably benign	Het
Spag17	C	T	3: 99,934,942 (GRCm39)	S716F	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spg11	C	T	2: 121,900,413 (GRCm39)	M1546I	probably benign	Het
Spmip11	T	G	15: 98,486,493 (GRCm39)	S88A	possibly damaging	Het
Stac3	C	T	10: 127,339,454 (GRCm39)	L117F	probably damaging	Het
Surf6	A	G	2: 26,782,536 (GRCm39)	W264R	probably damaging	Het
Taar7e	T	C	10: 23,913,810 (GRCm39)	V100A	probably damaging	Het
Tenm3	T	C	8: 48,795,688 (GRCm39)	H534R	probably damaging	Het
Tinagl1	C	A	4: 130,067,823 (GRCm39)	R57L	probably damaging	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Traf6	A	G	2: 101,527,333 (GRCm39)	Y361C	possibly damaging	Het
Ttn	A	T	2: 76,777,334 (GRCm39)		probably benign	Het
Ufl1	A	T	4: 25,254,778 (GRCm39)	Y559*	probably null	Het
Upk1b	A	T	16: 38,607,570 (GRCm39)	N52K	probably damaging	Het
Uqcrb	A	G	13: 67,053,363 (GRCm39)	S5P	probably benign	Het
Use1	A	G	8: 71,819,688 (GRCm39)	Y3C	unknown	Het
Usp9y	T	A	Y: 1,434,993 (GRCm39)	I279L	possibly damaging	Het
Vmn1r142	A	G	7: 21,862,796 (GRCm39)	L222P	probably damaging	Het
Vmn1r184	A	C	7: 25,967,177 (GRCm39)	N308H	probably benign	Het
Vmn2r14	C	A	5: 109,367,893 (GRCm39)	M366I	probably benign	Het
Vmn2r73	G	T	7: 85,521,904 (GRCm39)	S145Y	probably damaging	Het
Wdfy1	A	T	1: 79,692,697 (GRCm39)	W207R	probably damaging	Het
Zbtb38	A	T	9: 96,569,100 (GRCm39)	N661K	probably benign	Het
Zkscan3	G	T	13: 21,572,383 (GRCm39)	H416Q	possibly damaging	Het

Other mutations in Or1x6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Or1x6	APN	11	50,939,227 (GRCm39)	missense	probably benign	0.00
R0268:Or1x6	UTSW	11	50,939,768 (GRCm39)	missense	probably damaging	1.00
R0462:Or1x6	UTSW	11	50,939,336 (GRCm39)	missense	probably damaging	1.00
R0478:Or1x6	UTSW	11	50,939,539 (GRCm39)	missense	probably benign	0.03
R0839:Or1x6	UTSW	11	50,939,254 (GRCm39)	missense	probably benign	0.06
R2517:Or1x6	UTSW	11	50,939,300 (GRCm39)	missense	probably damaging	1.00
R4688:Or1x6	UTSW	11	50,939,815 (GRCm39)	missense	probably damaging	1.00
R4781:Or1x6	UTSW	11	50,939,307 (GRCm39)	missense	probably damaging	1.00
R5396:Or1x6	UTSW	11	50,939,297 (GRCm39)	missense	probably damaging	1.00
R6163:Or1x6	UTSW	11	50,939,595 (GRCm39)	nonsense	probably null
R6739:Or1x6	UTSW	11	50,939,564 (GRCm39)	missense	probably damaging	0.97
R7344:Or1x6	UTSW	11	50,939,122 (GRCm39)	missense	probably damaging	1.00
R7994:Or1x6	UTSW	11	50,938,967 (GRCm39)	missense	probably benign	0.31
R8054:Or1x6	UTSW	11	50,939,090 (GRCm39)	missense	probably benign	0.22
R8129:Or1x6	UTSW	11	50,939,210 (GRCm39)	missense	probably benign	0.00
R8940:Or1x6	UTSW	11	50,939,455 (GRCm39)	missense	probably benign	0.01
R9005:Or1x6	UTSW	11	50,938,938 (GRCm39)	start codon destroyed	probably null	0.18
R9016:Or1x6	UTSW	11	50,938,938 (GRCm39)	start codon destroyed	probably null	0.18
R9018:Or1x6	UTSW	11	50,938,938 (GRCm39)	start codon destroyed	probably null	0.18
R9028:Or1x6	UTSW	11	50,939,660 (GRCm39)	missense	probably damaging	1.00
R9051:Or1x6	UTSW	11	50,938,938 (GRCm39)	start codon destroyed	probably null	0.18
R9052:Or1x6	UTSW	11	50,938,938 (GRCm39)	start codon destroyed	probably null	0.18
R9203:Or1x6	UTSW	11	50,939,161 (GRCm39)	missense	possibly damaging	0.82
R9364:Or1x6	UTSW	11	50,939,223 (GRCm39)	nonsense	probably null
R9376:Or1x6	UTSW	11	50,939,662 (GRCm39)	missense	probably damaging	1.00
R9554:Or1x6	UTSW	11	50,939,223 (GRCm39)	nonsense	probably null
R9641:Or1x6	UTSW	11	50,939,207 (GRCm39)	missense	probably benign	0.34
Z1176:Or1x6	UTSW	11	50,939,662 (GRCm39)	missense	probably damaging	1.00
Z1177:Or1x6	UTSW	11	50,939,353 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGAGAAAACTGAGTCCTTAATC -3'
(R):5'- TGGTGAAGCAGACATCAACG -3'

Sequencing Primer
(F):5'- CACACACACACAGAGAGAGAGAG -3'
(R):5'- CATCAACGAAGGAAAGGTTGGCC -3'

Posted On

2021-10-11