Incidental Mutation 'R1560:Otop3'
ID |
170566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop3
|
Ensembl Gene |
ENSMUSG00000018862 |
Gene Name |
otopetrin 3 |
Synonyms |
2310011E08Rik |
MMRRC Submission |
039599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1560 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115225557-115237753 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115235289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 307
(H307L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019006]
[ENSMUST00000044152]
[ENSMUST00000106542]
[ENSMUST00000106543]
|
AlphaFold |
Q80UF9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019006
AA Change: H326L
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000019006 Gene: ENSMUSG00000018862 AA Change: H326L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
142 |
483 |
3e-40 |
PFAM |
Pfam:Otopetrin
|
506 |
583 |
1.2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044152
|
SMART Domains |
Protein: ENSMUSP00000043789 Gene: ENSMUSG00000034586
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
763 |
3.9e-242 |
PFAM |
Pfam:Hid1
|
1 |
784 |
3.1e-260 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106542
|
SMART Domains |
Protein: ENSMUSP00000102152 Gene: ENSMUSG00000034586
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
764 |
7.5e-275 |
PFAM |
Pfam:Hid1
|
1 |
785 |
2.3e-261 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106543
AA Change: H307L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102153 Gene: ENSMUSG00000018862 AA Change: H307L
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
transmembrane domain
|
178 |
195 |
N/A |
INTRINSIC |
transmembrane domain
|
208 |
227 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
241 |
462 |
2.1e-20 |
PFAM |
Pfam:Otopetrin
|
487 |
564 |
2.2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146256
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,976,976 (GRCm39) |
T165A |
probably benign |
Het |
Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc27a6 |
T |
A |
18: 58,712,904 (GRCm39) |
L242* |
probably null |
Het |
Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
Taf4 |
A |
G |
2: 179,577,746 (GRCm39) |
V525A |
probably benign |
Het |
Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
A |
7: 98,002,151 (GRCm39) |
D60V |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
probably null |
Het |
Zfp512b |
T |
C |
2: 181,230,472 (GRCm39) |
T473A |
probably benign |
Het |
|
Other mutations in Otop3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Otop3
|
APN |
11 |
115,235,279 (GRCm39) |
missense |
probably benign |
|
IGL00159:Otop3
|
APN |
11 |
115,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01372:Otop3
|
APN |
11 |
115,235,930 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01380:Otop3
|
APN |
11 |
115,237,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01960:Otop3
|
APN |
11 |
115,231,795 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03099:Otop3
|
APN |
11 |
115,230,408 (GRCm39) |
missense |
probably damaging |
0.99 |
F5770:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R2849:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R5582:Otop3
|
UTSW |
11 |
115,230,165 (GRCm39) |
missense |
unknown |
|
R6383:Otop3
|
UTSW |
11 |
115,235,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R6601:Otop3
|
UTSW |
11 |
115,230,673 (GRCm39) |
missense |
probably damaging |
0.98 |
R7001:Otop3
|
UTSW |
11 |
115,230,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Otop3
|
UTSW |
11 |
115,237,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R7487:Otop3
|
UTSW |
11 |
115,235,826 (GRCm39) |
missense |
probably benign |
|
R7609:Otop3
|
UTSW |
11 |
115,230,546 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7639:Otop3
|
UTSW |
11 |
115,235,187 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7643:Otop3
|
UTSW |
11 |
115,230,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7820:Otop3
|
UTSW |
11 |
115,230,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R8044:Otop3
|
UTSW |
11 |
115,237,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Otop3
|
UTSW |
11 |
115,230,221 (GRCm39) |
missense |
probably benign |
|
R8281:Otop3
|
UTSW |
11 |
115,235,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8556:Otop3
|
UTSW |
11 |
115,235,782 (GRCm39) |
missense |
probably benign |
0.00 |
R8899:Otop3
|
UTSW |
11 |
115,231,886 (GRCm39) |
critical splice donor site |
probably null |
|
R9137:Otop3
|
UTSW |
11 |
115,235,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9165:Otop3
|
UTSW |
11 |
115,235,424 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9306:Otop3
|
UTSW |
11 |
115,237,248 (GRCm39) |
missense |
probably benign |
0.09 |
R9788:Otop3
|
UTSW |
11 |
115,235,087 (GRCm39) |
missense |
unknown |
|
V7580:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7581:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7582:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7583:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Otop3
|
UTSW |
11 |
115,230,693 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Otop3
|
UTSW |
11 |
115,231,838 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Otop3
|
UTSW |
11 |
115,230,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTAACGGGACCAACACTTGC -3'
(R):5'- CAGGCCCTCGATGATGAAGAGATTC -3'
Sequencing Primer
(F):5'- CATGTGCCTCAACACCACAG -3'
(R):5'- AAGTAGGCGATGCCCATCTG -3'
|
Posted On |
2014-04-13 |