Incidental Mutation 'IGL01444:Islr2'
ID84358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Islr2
Ensembl Gene ENSMUSG00000051243
Gene Nameimmunoglobulin superfamily containing leucine-rich repeat 2
SynonymsLinx, mbu-3, B930052A04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01444
Quality Score
Status
Chromosome9
Chromosomal Location58196297-58204319 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58198378 bp
ZygosityHeterozygous
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] [ENSMUST00000216297] [ENSMUST00000217050] [ENSMUST00000217427] [ENSMUST00000217512] [ENSMUST00000217578]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000216297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216359
Predicted Effect probably benign
Transcript: ENSMUST00000217050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217158
Predicted Effect probably benign
Transcript: ENSMUST00000217427
Predicted Effect probably benign
Transcript: ENSMUST00000217512
Predicted Effect probably benign
Transcript: ENSMUST00000217578
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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 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
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Islr2 APN 9 58199786 missense probably benign 0.03
green UTSW 9 58199744 missense possibly damaging 0.82
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
X0026:Islr2 UTSW 9 58198286 missense probably damaging 1.00
Posted On2013-11-11