Incidental Mutation 'R0553:Otop2'
ID |
45294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop2
|
Ensembl Gene |
ENSMUSG00000050201 |
Gene Name |
otopetrin 2 |
Synonyms |
|
MMRRC Submission |
038745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0553 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 115220288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 376
(A376V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000106544]
|
AlphaFold |
Q80SX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055490
AA Change: A376V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: A376V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
102 |
225 |
1e-18 |
PFAM |
Pfam:Otopetrin
|
214 |
451 |
5.5e-20 |
PFAM |
Pfam:Otopetrin
|
479 |
550 |
8.9e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106544
AA Change: A376V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: A376V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
102 |
450 |
7.9e-54 |
PFAM |
Pfam:Otopetrin
|
476 |
550 |
2e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.3756 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
Het |
|
Other mutations in Otop2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00671:Otop2
|
APN |
11 |
115,222,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01832:Otop2
|
APN |
11 |
115,217,769 (GRCm39) |
missense |
probably benign |
|
IGL02114:Otop2
|
APN |
11 |
115,217,806 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02432:Otop2
|
APN |
11 |
115,219,988 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02453:Otop2
|
APN |
11 |
115,215,455 (GRCm39) |
nonsense |
probably null |
|
IGL02986:Otop2
|
APN |
11 |
115,220,393 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03225:Otop2
|
APN |
11 |
115,220,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Otop2
|
UTSW |
11 |
115,217,234 (GRCm39) |
splice site |
probably benign |
|
R1209:Otop2
|
UTSW |
11 |
115,215,469 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1497:Otop2
|
UTSW |
11 |
115,220,675 (GRCm39) |
splice site |
probably null |
|
R1765:Otop2
|
UTSW |
11 |
115,215,504 (GRCm39) |
missense |
probably benign |
0.04 |
R1822:Otop2
|
UTSW |
11 |
115,215,454 (GRCm39) |
missense |
probably benign |
0.41 |
R1926:Otop2
|
UTSW |
11 |
115,217,781 (GRCm39) |
missense |
probably benign |
0.00 |
R2151:Otop2
|
UTSW |
11 |
115,220,237 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2192:Otop2
|
UTSW |
11 |
115,217,757 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2350:Otop2
|
UTSW |
11 |
115,217,676 (GRCm39) |
missense |
probably damaging |
0.97 |
R2352:Otop2
|
UTSW |
11 |
115,219,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R2915:Otop2
|
UTSW |
11 |
115,219,972 (GRCm39) |
missense |
probably benign |
0.07 |
R3614:Otop2
|
UTSW |
11 |
115,219,972 (GRCm39) |
missense |
probably benign |
0.07 |
R4060:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4061:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4062:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4063:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4064:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4184:Otop2
|
UTSW |
11 |
115,220,671 (GRCm39) |
missense |
probably benign |
0.05 |
R4844:Otop2
|
UTSW |
11 |
115,214,201 (GRCm39) |
splice site |
probably null |
|
R5681:Otop2
|
UTSW |
11 |
115,217,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R5713:Otop2
|
UTSW |
11 |
115,219,870 (GRCm39) |
missense |
probably damaging |
0.98 |
R6738:Otop2
|
UTSW |
11 |
115,220,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6975:Otop2
|
UTSW |
11 |
115,220,152 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8866:Otop2
|
UTSW |
11 |
115,220,354 (GRCm39) |
missense |
probably benign |
|
R9017:Otop2
|
UTSW |
11 |
115,214,431 (GRCm39) |
missense |
probably benign |
0.11 |
R9062:Otop2
|
UTSW |
11 |
115,214,465 (GRCm39) |
missense |
probably benign |
0.06 |
R9205:Otop2
|
UTSW |
11 |
115,219,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9524:Otop2
|
UTSW |
11 |
115,214,503 (GRCm39) |
missense |
probably benign |
0.00 |
RF013:Otop2
|
UTSW |
11 |
115,214,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGCCCTGGTCATCTACTACAG -3'
(R):5'- GCGGATAGCATCCAGGTTAGCAAAG -3'
Sequencing Primer
(F):5'- ACAGCTTTAACATTGTCTGTCTGG -3'
(R):5'- GGCATTTCACGAGGCTCAG -3'
|
Posted On |
2013-06-11 |