Incidental Mutation 'R1209:Otop2'
ID |
100609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop2
|
Ensembl Gene |
ENSMUSG00000050201 |
Gene Name |
otopetrin 2 |
Synonyms |
|
MMRRC Submission |
039278-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1209 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115215469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 130
(E130G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000103037]
[ENSMUST00000106544]
|
AlphaFold |
Q80SX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055490
AA Change: E130G
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: E130G
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 benign
Transcript: ENSMUST00000103037
|
SMART Domains |
Protein: ENSMUSP00000099326 Gene: ENSMUSG00000045288
Domain | Start | End | E-Value | Type |
ANK
|
31 |
60 |
1.83e-3 |
SMART |
ANK
|
64 |
93 |
8.07e-5 |
SMART |
ANK
|
97 |
126 |
6.26e-2 |
SMART |
low complexity region
|
159 |
190 |
N/A |
INTRINSIC |
PDB:3PVL|B
|
295 |
368 |
3e-30 |
PDB |
SAM
|
385 |
449 |
1.34e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106544
AA Change: E130G
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: E130G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139466
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 85.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,839,629 (GRCm39) |
D180G |
probably damaging |
Het |
Aopep |
A |
G |
13: 63,338,878 (GRCm39) |
|
probably null |
Het |
Banp |
G |
A |
8: 122,702,656 (GRCm39) |
V30I |
possibly damaging |
Het |
Btn2a2 |
C |
T |
13: 23,664,736 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cdhr1 |
C |
T |
14: 36,804,899 (GRCm39) |
|
probably null |
Het |
Cfap44 |
T |
C |
16: 44,242,780 (GRCm39) |
I728T |
possibly damaging |
Het |
Fbn2 |
A |
G |
18: 58,203,088 (GRCm39) |
M1212T |
probably benign |
Het |
Fmo3 |
C |
T |
1: 162,791,597 (GRCm39) |
D227N |
probably benign |
Het |
Klk1b5 |
G |
T |
7: 43,496,422 (GRCm39) |
R118L |
probably damaging |
Het |
Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
Muc5b |
A |
G |
7: 141,411,647 (GRCm39) |
N1531S |
unknown |
Het |
Mypn |
A |
G |
10: 62,954,278 (GRCm39) |
S1234P |
probably damaging |
Het |
Nme5 |
A |
G |
18: 34,702,949 (GRCm39) |
L113S |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,672,484 (GRCm39) |
V207A |
probably benign |
Het |
Or13a20 |
A |
G |
7: 140,231,927 (GRCm39) |
T12A |
probably benign |
Het |
Or4f52 |
T |
C |
2: 111,061,958 (GRCm39) |
Y60C |
probably damaging |
Het |
Pard6a |
A |
G |
8: 106,429,023 (GRCm39) |
K78R |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,840,809 (GRCm39) |
L1637H |
probably damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rnaset2b |
T |
A |
17: 7,246,475 (GRCm39) |
C27S |
probably benign |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Speer4a1 |
T |
C |
5: 26,240,123 (GRCm39) |
|
probably null |
Het |
Srsf4 |
A |
G |
4: 131,628,370 (GRCm39) |
|
probably benign |
Het |
Syt11 |
G |
A |
3: 88,655,147 (GRCm39) |
R79C |
probably damaging |
Het |
Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
Tmem132d |
T |
A |
5: 127,861,934 (GRCm39) |
D729V |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
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 |
|
R0553:Otop2
|
UTSW |
11 |
115,220,288 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CTTTCAGACATACAGTCGCCCATCC -3'
(R):5'- CCAGTGCCATTTGCTGAATTGCTC -3'
Sequencing Primer
(F):5'- cccatccatccatccatcc -3'
(R):5'- TGCTGAATTGCTCAGGGATG -3'
|
Posted On |
2014-01-15 |