Incidental Mutation 'IGL01444:Islr2'
| ID |
84358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Islr2
|
| Ensembl Gene |
ENSMUSG00000051243 |
| Gene Name |
immunoglobulin superfamily containing leucine-rich repeat 2 |
| Synonyms |
Linx, mbu-3, B930052A04Rik |
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58196297-58204319 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58198378 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 533
(C533Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000214647]
[ENSMUST00000214649]
[ENSMUST00000215950]
[ENSMUST00000216231]
[ENSMUST00000217578]
[ENSMUST00000217427]
[ENSMUST00000217050]
[ENSMUST00000216297]
[ENSMUST00000217512]
|
| AlphaFold |
Q5RKR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114144
AA Change: C533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109781
Gene: ENSMUSG00000051243
AA Change: C533Y
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163200
AA Change: C577Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130879
Gene: ENSMUSG00000051243
AA Change: C577Y
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
63 |
99 |
1.1e-1 |
SMART |
|
LRR
|
93 |
117 |
8.24e0 |
SMART |
|
LRR
|
142 |
165 |
1.91e1 |
SMART |
|
LRR
|
166 |
189 |
3.07e-1 |
SMART |
|
LRR_TYP
|
190 |
213 |
1.58e-3 |
SMART |
|
LRRCT
|
225 |
275 |
2.36e-12 |
SMART |
|
IG
|
289 |
418 |
2.99e-2 |
SMART |
|
low complexity region
|
554 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
635 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163897
AA Change: C533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130322
Gene: ENSMUSG00000051243
AA Change: C533Y
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165276
AA Change: C533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129328
Gene: ENSMUSG00000051243
AA Change: C533Y
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170421
AA Change: C533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127228
Gene: ENSMUSG00000051243
AA Change: C533Y
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214649
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215950
AA Change: C533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217512
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, absent tail pinch response, and defective peroneal and tibial nerve morphology and branch extension. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
T |
G |
11: 23,620,225 |
|
probably benign |
Het |
| Adad1 |
A |
T |
3: 37,092,034 |
N517I |
probably damaging |
Het |
| Adam25 |
G |
A |
8: 40,754,921 |
R408H |
probably benign |
Het |
| Ang |
C |
A |
14: 51,101,667 |
Y88* |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,610,585 |
T327A |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,631,687 |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,348,742 |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,200,055 |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,748,977 |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,020,232 |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,673,709 |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,340,090 |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 141,361,375 |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,206,935 |
K49R |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 124,895,841 |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 36,918,577 |
G391R |
probably null |
Het |
| Fam35a |
C |
A |
14: 34,237,557 |
V823F |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,998,848 |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,201,347 |
N252K |
probably damaging |
Het |
| Gm5346 |
A |
T |
8: 43,626,433 |
D251E |
probably benign |
Het |
| Haus2 |
G |
A |
2: 120,615,942 |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,884,379 |
K262E |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,443,716 |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,216,169 |
R354W |
probably damaging |
Het |
| Olfr776 |
T |
A |
10: 129,261,335 |
C125S |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,607,476 |
S200R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,179,297 |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,780,372 |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,565,387 |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,475,300 |
Y887H |
possibly damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,961,883 |
E447K |
possibly damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,387,236 |
|
probably null |
Het |
| Timm10 |
T |
A |
2: 84,829,864 |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,225,466 |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,998,789 |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 85,059,164 |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 |
S550P |
probably benign |
Het |
|
| Other mutations in Islr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Islr2
|
APN |
9 |
58199786 |
missense |
probably benign |
0.03 |
|
R0346:Islr2
|
UTSW |
9 |
58198343 |
nonsense |
probably null |
|
|
R0360:Islr2
|
UTSW |
9 |
58199744 |
missense |
possibly damaging |
0.82 |
|
R0364:Islr2
|
UTSW |
9 |
58199744 |
missense |
possibly damaging |
0.82 |
|
R0528:Islr2
|
UTSW |
9 |
58199362 |
missense |
probably damaging |
0.97 |
|
R0693:Islr2
|
UTSW |
9 |
58199744 |
missense |
possibly damaging |
0.82 |
|
R1854:Islr2
|
UTSW |
9 |
58199816 |
missense |
probably damaging |
0.97 |
|
R2893:Islr2
|
UTSW |
9 |
58197866 |
missense |
probably damaging |
1.00 |
|
R3747:Islr2
|
UTSW |
9 |
58199642 |
missense |
probably benign |
0.00 |
|
R3914:Islr2
|
UTSW |
9 |
58198383 |
nonsense |
probably null |
|
|
R4176:Islr2
|
UTSW |
9 |
58199900 |
missense |
probably damaging |
1.00 |
|
R4212:Islr2
|
UTSW |
9 |
58199320 |
missense |
probably damaging |
1.00 |
|
R4844:Islr2
|
UTSW |
9 |
58208234 |
unclassified |
probably benign |
|
|
R5303:Islr2
|
UTSW |
9 |
58208275 |
unclassified |
probably benign |
|
|
R5636:Islr2
|
UTSW |
9 |
58201301 |
missense |
probably benign |
0.03 |
|
R5787:Islr2
|
UTSW |
9 |
58198354 |
missense |
probably damaging |
0.97 |
|
R5883:Islr2
|
UTSW |
9 |
58198715 |
missense |
probably benign |
0.01 |
|
R6406:Islr2
|
UTSW |
9 |
58199980 |
missense |
probably benign |
|
|
R7105:Islr2
|
UTSW |
9 |
58197814 |
missense |
probably damaging |
1.00 |
|
R7130:Islr2
|
UTSW |
9 |
58198292 |
missense |
probably damaging |
1.00 |
|
R7316:Islr2
|
UTSW |
9 |
58197967 |
missense |
probably damaging |
0.99 |
|
X0026:Islr2
|
UTSW |
9 |
58198286 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
