Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Or8k22'

568798

Institutional Source

Beutler Lab

Gene Symbol

Or8k22

Ensembl Gene

ENSMUSG00000075190

Gene Name

olfactory receptor family 8 subfamily K member 22

Synonyms

Olfr1054, GA_x6K02T2Q125-47811880-47810942, MOR188-2

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86162760-86163698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86163344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000150810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]

AlphaFold

Q8VGS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099895
AA Change: S119P

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: S119P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.8e-49	PFAM
Pfam:7tm_1	41	289	5.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122018

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213205
AA Change: S119P

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably damaging	Het

Other mutations in Or8k22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Or8k22	APN	2	86,163,048 (GRCm39)	nonsense	probably null
IGL02266:Or8k22	APN	2	86,163,323 (GRCm39)	missense	probably damaging	0.98
IGL02398:Or8k22	APN	2	86,162,868 (GRCm39)	nonsense	probably null
IGL02535:Or8k22	APN	2	86,163,019 (GRCm39)	missense	probably damaging	1.00
IGL02590:Or8k22	APN	2	86,163,344 (GRCm39)	missense	possibly damaging	0.52
IGL02630:Or8k22	APN	2	86,163,212 (GRCm39)	missense	probably benign	0.39
PIT4151001:Or8k22	UTSW	2	86,163,173 (GRCm39)	missense	possibly damaging	0.60
R0520:Or8k22	UTSW	2	86,163,475 (GRCm39)	missense	probably damaging	1.00
R1079:Or8k22	UTSW	2	86,163,185 (GRCm39)	missense	probably damaging	0.96
R1887:Or8k22	UTSW	2	86,163,617 (GRCm39)	missense	possibly damaging	0.90
R2037:Or8k22	UTSW	2	86,162,774 (GRCm39)	missense	probably benign	0.03
R2120:Or8k22	UTSW	2	86,163,689 (GRCm39)	missense	probably benign	0.00
R2153:Or8k22	UTSW	2	86,162,872 (GRCm39)	missense	probably damaging	1.00
R4523:Or8k22	UTSW	2	86,163,644 (GRCm39)	missense	probably benign	0.12
R4836:Or8k22	UTSW	2	86,163,571 (GRCm39)	missense	probably benign	0.12
R6147:Or8k22	UTSW	2	86,162,844 (GRCm39)	missense	probably damaging	1.00
R6802:Or8k22	UTSW	2	86,163,529 (GRCm39)	missense	possibly damaging	0.91
R6886:Or8k22	UTSW	2	86,163,408 (GRCm39)	nonsense	probably null
R6894:Or8k22	UTSW	2	86,163,295 (GRCm39)	missense	probably damaging	1.00
R7275:Or8k22	UTSW	2	86,163,136 (GRCm39)	missense	possibly damaging	0.91
R7322:Or8k22	UTSW	2	86,162,908 (GRCm39)	missense	probably benign	0.14
R7526:Or8k22	UTSW	2	86,163,697 (GRCm39)	start codon destroyed	probably null	1.00
R7976:Or8k22	UTSW	2	86,163,064 (GRCm39)	missense	probably benign	0.05
R8421:Or8k22	UTSW	2	86,163,247 (GRCm39)	missense	possibly damaging	0.80
R8838:Or8k22	UTSW	2	86,163,317 (GRCm39)	missense	possibly damaging	0.61
R9297:Or8k22	UTSW	2	86,163,188 (GRCm39)	missense	probably benign	0.01
Z1176:Or8k22	UTSW	2	86,163,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCAGAAATGACTAACGATCCTG -3'
(R):5'- ATCATCCTTACCATGGTGGAC -3'

Sequencing Primer
(F):5'- GAAATGACTAACGATCCTGTAATCAC -3'
(R):5'- TACCATGGTGGACTCCCGATTG -3'

Posted On

2019-09-13