Mutagenetix > Incidental Mutation

Incidental Mutation 'R8838:Or8k22'

674258

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

068666-MU

Accession Numbers

Essential gene?

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

Stock #

R8838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86162760-86163698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86163317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 128 (K128E)

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: K128E

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: K128E

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

possibly damaging
Transcript: ENSMUST00000213205
AA Change: K128E

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,920,881 (GRCm39)	I1498F	probably damaging	Het
Aco2	T	A	15: 81,796,128 (GRCm39)	N508K	probably damaging	Het
Aff4	T	C	11: 53,297,465 (GRCm39)	S896P	possibly damaging	Het
Anapc2	T	G	2: 25,163,546 (GRCm39)	V261G	probably benign	Het
Atm	A	G	9: 53,427,851 (GRCm39)	S420P	probably damaging	Het
Bag6	C	T	17: 35,363,367 (GRCm39)	R736C	probably damaging	Het
Brca2	A	G	5: 150,465,005 (GRCm39)	T1590A	possibly damaging	Het
Cacna2d3	C	T	14: 28,691,220 (GRCm39)	C35Y	probably benign	Het
Cep170b	G	A	12: 112,710,159 (GRCm39)	R1433H	probably damaging	Het
Cmtm2a	A	G	8: 105,008,036 (GRCm39)	C138R	probably damaging	Het
Cntnap5c	T	A	17: 58,198,964 (GRCm39)	V86E		Het
Cog7	A	G	7: 121,549,106 (GRCm39)	I385T	probably damaging	Het
Col28a1	A	T	6: 8,091,839 (GRCm39)		probably null	Het
Dkk3	T	C	7: 111,717,542 (GRCm39)	E309G	probably benign	Het
Dnah10	T	C	5: 124,842,614 (GRCm39)	V1411A	probably benign	Het
Enox1	G	T	14: 77,819,950 (GRCm39)	R235L	probably benign	Het
Foxn1	T	C	11: 78,252,438 (GRCm39)	N317D	possibly damaging	Het
Grip2	G	A	6: 91,762,721 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,604,854 (GRCm39)	T406A	probably benign	Het
Hpcal1	G	A	12: 17,836,197 (GRCm39)	R9H	probably benign	Het
Iglv3	A	T	16: 19,060,132 (GRCm39)	Y65*	probably null	Het
Itgal	A	G	7: 126,910,433 (GRCm39)	Y514C	probably damaging	Het
Kcnk9	T	C	15: 72,418,019 (GRCm39)	E37G	possibly damaging	Het
Klhl40	A	G	9: 121,609,107 (GRCm39)	D424G	probably benign	Het
Lbr	A	G	1: 181,648,294 (GRCm39)	L389P	possibly damaging	Het
Ly9	A	G	1: 171,421,569 (GRCm39)	Y561H	probably damaging	Het
Mcoln3	T	C	3: 145,845,126 (GRCm39)	F441L	probably damaging	Het
Muc20	G	T	16: 32,613,829 (GRCm39)	T516K	possibly damaging	Het
Naa35	T	C	13: 59,775,775 (GRCm39)	M551T	probably benign	Het
Nkx6-2	T	A	7: 139,161,868 (GRCm39)	T170S	probably damaging	Het
Nlrp4c	T	A	7: 6,069,337 (GRCm39)	F413I		Het
Or10w1	G	A	19: 13,632,371 (GRCm39)	V193M	probably damaging	Het
Or1s2	C	A	19: 13,758,381 (GRCm39)	T133K	probably benign	Het
Or6c1b	T	G	10: 129,273,065 (GRCm39)	L128R	probably damaging	Het
Pcdhga10	C	T	18: 37,881,952 (GRCm39)	T571I	possibly damaging	Het
Pla2g4a	A	T	1: 149,747,256 (GRCm39)	M310K	probably benign	Het
Plaa	T	C	4: 94,471,791 (GRCm39)	T353A	probably benign	Het
Rapgef1	T	C	2: 29,627,458 (GRCm39)	F1172S	possibly damaging	Het
Rfx2	T	C	17: 57,087,877 (GRCm39)	T505A	possibly damaging	Het
Rfx4	T	C	10: 84,676,758 (GRCm39)	V216A	probably damaging	Het
Rps6kb2	G	T	19: 4,211,183 (GRCm39)	A114D	probably damaging	Het
Sdc2	T	A	15: 33,023,897 (GRCm39)	L92*	probably null	Het
Slc18b1	A	G	10: 23,696,764 (GRCm39)	Y319C	probably benign	Het
Slc22a15	A	T	3: 101,790,849 (GRCm39)	Y219N	probably damaging	Het
Tarbp1	A	T	8: 127,177,569 (GRCm39)		probably benign	Het
Tfap2d	T	C	1: 19,175,036 (GRCm39)	L163P	possibly damaging	Het
Trank1	A	G	9: 111,193,973 (GRCm39)	I666V	probably benign	Het
Trav14-1	G	T	14: 53,792,009 (GRCm39)	A120S	probably damaging	Het
Trps1	T	A	15: 50,753,007 (GRCm39)	N20I	probably benign	Het
Txndc16	A	G	14: 45,378,028 (GRCm39)	Y682H	probably damaging	Het
Ube4a	A	T	9: 44,837,261 (GRCm39)	D991E	probably damaging	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	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
R7325:Or8k22	UTSW	2	86,163,344 (GRCm39)	missense	possibly damaging	0.52
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
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'- TGATATTAAAGGGAGACTATCGCAG -3'
(R):5'- GGACTCCCGATTGCAAACAC -3'

Sequencing Primer
(F):5'- TATCGCAGAAATGACTAACGATCCTG -3'
(R):5'- AGACATCTGGCTATCACTGATCTTGG -3'

Posted On

2021-07-15