Incidental Mutation 'R5625:Otop1'
ID |
441786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop1
|
Ensembl Gene |
ENSMUSG00000051596 |
Gene Name |
otopetrin 1 |
Synonyms |
tlt, A530025J20Rik |
MMRRC Submission |
043164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5625 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
38434748-38461560 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38460104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 557
(Y557F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063136]
[ENSMUST00000114099]
|
AlphaFold |
Q80VM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063136
AA Change: Y553F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061805 Gene: ENSMUSG00000051596 AA Change: Y553F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
transmembrane domain
|
87 |
106 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
127 |
239 |
1.6e-13 |
PFAM |
Pfam:Otopetrin
|
240 |
456 |
1.9e-16 |
PFAM |
low complexity region
|
462 |
471 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
518 |
583 |
3e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114099
AA Change: Y557F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109734 Gene: ENSMUSG00000051596 AA Change: Y557F
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
130 |
457 |
3.1e-40 |
PFAM |
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
513 |
587 |
2.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187863
|
Meta Mutation Damage Score |
0.3417 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice display vestibular abnormalities associated with absent otoconia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted(3) Spontaneous(1) Chemically induced(2)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
possibly damaging |
Het |
|
Other mutations in Otop1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01555:Otop1
|
APN |
5 |
38,460,188 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01793:Otop1
|
APN |
5 |
38,457,215 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02071:Otop1
|
APN |
5 |
38,445,327 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02111:Otop1
|
APN |
5 |
38,435,045 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02660:Otop1
|
APN |
5 |
38,445,349 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02672:Otop1
|
APN |
5 |
38,435,170 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03164:Otop1
|
APN |
5 |
38,445,306 (GRCm39) |
nonsense |
probably null |
|
BB008:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
P0015:Otop1
|
UTSW |
5 |
38,451,903 (GRCm39) |
splice site |
probably benign |
|
R0092:Otop1
|
UTSW |
5 |
38,457,174 (GRCm39) |
missense |
probably damaging |
0.97 |
R0639:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0670:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0673:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2092:Otop1
|
UTSW |
5 |
38,457,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Otop1
|
UTSW |
5 |
38,457,801 (GRCm39) |
missense |
probably benign |
|
R2152:Otop1
|
UTSW |
5 |
38,460,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
R3972:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
R4575:Otop1
|
UTSW |
5 |
38,457,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Otop1
|
UTSW |
5 |
38,457,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4998:Otop1
|
UTSW |
5 |
38,451,892 (GRCm39) |
critical splice donor site |
probably null |
|
R5412:Otop1
|
UTSW |
5 |
38,455,328 (GRCm39) |
missense |
probably benign |
0.25 |
R5461:Otop1
|
UTSW |
5 |
38,457,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Otop1
|
UTSW |
5 |
38,451,848 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5677:Otop1
|
UTSW |
5 |
38,457,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Otop1
|
UTSW |
5 |
38,455,260 (GRCm39) |
missense |
probably benign |
0.04 |
R5878:Otop1
|
UTSW |
5 |
38,435,166 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6163:Otop1
|
UTSW |
5 |
38,445,234 (GRCm39) |
splice site |
probably null |
|
R7338:Otop1
|
UTSW |
5 |
38,457,547 (GRCm39) |
nonsense |
probably null |
|
R7931:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Otop1
|
UTSW |
5 |
38,457,195 (GRCm39) |
missense |
probably benign |
0.02 |
R8224:Otop1
|
UTSW |
5 |
38,457,846 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8733:Otop1
|
UTSW |
5 |
38,457,796 (GRCm39) |
nonsense |
probably null |
|
R8733:Otop1
|
UTSW |
5 |
38,457,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Otop1
|
UTSW |
5 |
38,457,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Otop1
|
UTSW |
5 |
38,445,274 (GRCm39) |
missense |
probably benign |
0.25 |
R9278:Otop1
|
UTSW |
5 |
38,460,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Otop1
|
UTSW |
5 |
38,455,302 (GRCm39) |
missense |
probably benign |
0.06 |
X0064:Otop1
|
UTSW |
5 |
38,457,095 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Otop1
|
UTSW |
5 |
38,435,114 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCACTGATGAAGCTAGTCTCC -3'
(R):5'- ACAGTGTTTGCTCATCCCCG -3'
Sequencing Primer
(F):5'- GATGAAGCTAGTCTCCCCCATG -3'
(R):5'- TGGCTGCAGAACCCCCTTG -3'
|
Posted On |
2016-11-08 |