Incidental Mutation 'IGL01305:Or2z2'
ID |
73397 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or2z2
|
Ensembl Gene |
ENSMUSG00000043314 |
Gene Name |
olfactory receptor family 2 subfamily Z member 2 |
Synonyms |
MOR281-1, MTPCR07, GA_x6K02T2NKPP-957001-957948, Olfr30 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL01305
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
58345741-58346806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58346088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 229
(M229K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055204]
[ENSMUST00000064614]
[ENSMUST00000215691]
|
AlphaFold |
Q8VGD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055204
AA Change: M229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055961 Gene: ENSMUSG00000043314 AA Change: M229K
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
1.9e-53 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
252 |
1.7e-6 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
8.3e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064614
|
SMART Domains |
Protein: ENSMUSP00000063665 Gene: ENSMUSG00000052642
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:UPAR_LY6
|
47 |
124 |
1.3e-6 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215691
AA Change: M229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
Adam29 |
T |
A |
8: 56,324,879 (GRCm39) |
H525L |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,110,554 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,218,978 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,255,869 (GRCm39) |
T461I |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,107,836 (GRCm39) |
|
probably null |
Het |
Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
Gm20479 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
Or4k47 |
T |
C |
2: 111,451,546 (GRCm39) |
N291S |
probably damaging |
Het |
Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
Rpl21 |
A |
G |
5: 146,770,996 (GRCm39) |
|
probably benign |
Het |
Rrp36 |
A |
T |
17: 46,979,017 (GRCm39) |
|
probably benign |
Het |
Skic8 |
C |
A |
9: 54,635,470 (GRCm39) |
V44L |
probably damaging |
Het |
St8sia5 |
G |
A |
18: 77,342,358 (GRCm39) |
G320D |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
|
Other mutations in Or2z2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02001:Or2z2
|
APN |
11 |
58,346,335 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02170:Or2z2
|
APN |
11 |
58,345,906 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Or2z2
|
APN |
11 |
58,345,873 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU22:Or2z2
|
UTSW |
11 |
58,346,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R0502:Or2z2
|
UTSW |
11 |
58,346,140 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0784:Or2z2
|
UTSW |
11 |
58,346,131 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1300:Or2z2
|
UTSW |
11 |
58,346,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1451:Or2z2
|
UTSW |
11 |
58,346,358 (GRCm39) |
missense |
probably benign |
0.00 |
R1642:Or2z2
|
UTSW |
11 |
58,346,664 (GRCm39) |
missense |
probably benign |
|
R1754:Or2z2
|
UTSW |
11 |
58,346,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Or2z2
|
UTSW |
11 |
58,346,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2920:Or2z2
|
UTSW |
11 |
58,346,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Or2z2
|
UTSW |
11 |
58,346,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Or2z2
|
UTSW |
11 |
58,346,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Or2z2
|
UTSW |
11 |
58,346,370 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4964:Or2z2
|
UTSW |
11 |
58,346,733 (GRCm39) |
missense |
probably benign |
0.05 |
R5433:Or2z2
|
UTSW |
11 |
58,346,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R5543:Or2z2
|
UTSW |
11 |
58,345,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Or2z2
|
UTSW |
11 |
58,346,394 (GRCm39) |
missense |
probably damaging |
0.98 |
R6653:Or2z2
|
UTSW |
11 |
58,346,394 (GRCm39) |
missense |
probably damaging |
0.98 |
R7388:Or2z2
|
UTSW |
11 |
58,346,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Or2z2
|
UTSW |
11 |
58,346,715 (GRCm39) |
missense |
probably benign |
0.28 |
R7566:Or2z2
|
UTSW |
11 |
58,346,489 (GRCm39) |
missense |
probably benign |
0.02 |
R7567:Or2z2
|
UTSW |
11 |
58,345,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R8557:Or2z2
|
UTSW |
11 |
58,346,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Or2z2
|
UTSW |
11 |
58,346,757 (GRCm39) |
nonsense |
probably null |
|
R8777-TAIL:Or2z2
|
UTSW |
11 |
58,346,757 (GRCm39) |
nonsense |
probably null |
|
R8810:Or2z2
|
UTSW |
11 |
58,345,936 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9139:Or2z2
|
UTSW |
11 |
58,345,999 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Or2z2
|
UTSW |
11 |
58,346,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |