Incidental Mutation 'R6975:Otop2'
ID |
542430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop2
|
Ensembl Gene |
ENSMUSG00000050201 |
Gene Name |
otopetrin 2 |
Synonyms |
|
MMRRC Submission |
045085-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6975 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115220152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 331
(S331C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000106544]
|
AlphaFold |
Q80SX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055490
AA Change: S331C
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: S331C
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 |
possibly damaging
Transcript: ENSMUST00000106544
AA Change: S331C
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: S331C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably 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 |
|
R0553:Otop2
|
UTSW |
11 |
115,220,288 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- CCATGCTGTATGTCATGTGGAAG -3'
(R):5'- CCACAGCCACGATAGAGTAG -3'
Sequencing Primer
(F):5'- AATGTGGGAAGGCTGCTC -3'
(R):5'- TAGTAGGAGATAGCGTATTGGCCC -3'
|
Posted On |
2018-11-28 |