Incidental Mutation 'R4060:Otop2'
ID |
315829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop2
|
Ensembl Gene |
ENSMUSG00000050201 |
Gene Name |
otopetrin 2 |
Synonyms |
|
MMRRC Submission |
041618-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4060 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115220201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 347
(G347D)
|
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: G347D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: G347D
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: G347D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: G347D
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 |
0.8486 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,848,027 (GRCm39) |
M756K |
probably benign |
Het |
Cd44 |
T |
C |
2: 102,731,687 (GRCm39) |
D2G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,556,224 (GRCm39) |
I681V |
probably benign |
Het |
Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
Cfh |
T |
C |
1: 140,047,664 (GRCm39) |
I488M |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,453,634 (GRCm39) |
L346F |
probably damaging |
Het |
Creb3l2 |
T |
C |
6: 37,311,484 (GRCm39) |
H435R |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,675,932 (GRCm39) |
|
probably benign |
Het |
Fam162a |
C |
T |
16: 35,864,451 (GRCm39) |
R38K |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Foxo1 |
A |
G |
3: 52,252,583 (GRCm39) |
R249G |
probably damaging |
Het |
Grm6 |
A |
G |
11: 50,744,051 (GRCm39) |
E174G |
probably damaging |
Het |
Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,284,160 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,429,143 (GRCm39) |
T932A |
possibly damaging |
Het |
Igfbp1 |
C |
A |
11: 7,148,091 (GRCm39) |
P45T |
probably damaging |
Het |
Ik |
A |
G |
18: 36,881,943 (GRCm39) |
K142E |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,792,348 (GRCm39) |
L27P |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Or13a20 |
T |
C |
7: 140,232,033 (GRCm39) |
I47T |
probably damaging |
Het |
Or1j14 |
A |
G |
2: 36,417,426 (GRCm39) |
M1V |
probably null |
Het |
Or7g19 |
T |
C |
9: 18,856,346 (GRCm39) |
V134A |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,639,217 (GRCm39) |
E581G |
probably damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,363 (GRCm39) |
I174M |
probably damaging |
Het |
Serpinb9g |
G |
A |
13: 33,679,089 (GRCm39) |
V320I |
probably benign |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Slc23a3 |
T |
G |
1: 75,109,964 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
G |
2: 84,871,978 (GRCm39) |
Y401D |
probably damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,148 (GRCm39) |
W261R |
probably damaging |
Het |
Tas2r144 |
T |
C |
6: 42,192,563 (GRCm39) |
V101A |
possibly damaging |
Het |
Tead1 |
T |
A |
7: 112,475,269 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,479,255 (GRCm39) |
S663G |
probably benign |
Het |
Trbv20 |
T |
G |
6: 41,165,195 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
T |
C |
6: 128,011,135 (GRCm39) |
I19M |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,579,465 (GRCm39) |
E552D |
probably benign |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
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 |
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'- AGAATGTGGGAAGGCTGCTC -3'
(R):5'- TGTGCTGAGCGATCATGAGTAG -3'
Sequencing Primer
(F):5'- TCCAGGGTCAGCCTGTTC -3'
(R):5'- CGTGGGACAGGTTGAGC -3'
|
Posted On |
2015-05-15 |