Incidental Mutation 'R0578:Isl2'
ID 56316
Institutional Source Beutler Lab
Gene Symbol Isl2
Ensembl Gene ENSMUSG00000032318
Gene Name insulin related protein 2 (islet 2)
Synonyms islet-2, 3110001N10Rik, islet 2
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0578 (G1)
Quality Score 100
Status Validated
Chromosome 9
Chromosomal Location 55445956-55453464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55452319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 297 (Y297C)
Ref Sequence ENSEMBL: ENSMUSP00000034869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000037408] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950] [ENSMUST00000214747]
AlphaFold Q9CXV0
PDB Structure The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034869
AA Change: Y297C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: Y297C

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
LIM 88 142 2.67e-15 SMART
HOX 191 253 3.41e-20 SMART
low complexity region 323 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037408
SMART Domains Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007

DomainStartEndE-ValueType
Pfam:SCAPER_N 88 185 3.4e-47 PFAM
low complexity region 323 338 N/A INTRINSIC
coiled coil region 415 466 N/A INTRINSIC
coiled coil region 535 597 N/A INTRINSIC
SCOP:d1eq1a_ 605 769 3e-6 SMART
ZnF_C2H2 791 815 1.16e1 SMART
low complexity region 866 883 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114290
SMART Domains Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164373
SMART Domains Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171441
Predicted Effect probably benign
Transcript: ENSMUST00000175950
SMART Domains Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318

DomainStartEndE-ValueType
LIM 37 91 4.09e-11 SMART
LIM 99 152 1.53e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214747
Meta Mutation Damage Score 0.3070 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Mutations of this gene result in neonatal lethality, motor neuron migration defects and impaired visceral motor neuron differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Isl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Isl2 APN 9 55,452,253 (GRCm39) missense possibly damaging 0.90
IGL01123:Isl2 APN 9 55,452,746 (GRCm39) missense probably damaging 1.00
IGL01773:Isl2 APN 9 55,451,504 (GRCm39) missense probably damaging 1.00
IGL02801:Isl2 APN 9 55,452,816 (GRCm39) splice site probably null
R3737:Isl2 UTSW 9 55,449,754 (GRCm39) missense probably benign 0.17
R4035:Isl2 UTSW 9 55,449,754 (GRCm39) missense probably benign 0.17
R4750:Isl2 UTSW 9 55,451,596 (GRCm39) missense probably benign 0.21
R4851:Isl2 UTSW 9 55,452,271 (GRCm39) missense possibly damaging 0.64
R5107:Isl2 UTSW 9 55,449,570 (GRCm39) missense probably benign 0.17
R5181:Isl2 UTSW 9 55,449,561 (GRCm39) missense probably benign 0.33
R6724:Isl2 UTSW 9 55,448,572 (GRCm39) missense possibly damaging 0.92
R7235:Isl2 UTSW 9 55,451,455 (GRCm39) missense probably benign
R7418:Isl2 UTSW 9 55,451,636 (GRCm39) missense probably benign 0.00
R7457:Isl2 UTSW 9 55,452,240 (GRCm39) missense probably benign 0.03
R7632:Isl2 UTSW 9 55,448,440 (GRCm39) splice site probably null
R7705:Isl2 UTSW 9 55,449,685 (GRCm39) missense probably benign 0.03
R7898:Isl2 UTSW 9 55,449,723 (GRCm39) missense probably benign 0.18
R8266:Isl2 UTSW 9 55,451,408 (GRCm39) missense probably benign 0.00
R8409:Isl2 UTSW 9 55,449,784 (GRCm39) missense possibly damaging 0.61
R8738:Isl2 UTSW 9 55,452,722 (GRCm39) missense probably benign 0.00
R9168:Isl2 UTSW 9 55,452,227 (GRCm39) missense probably benign 0.02
X0067:Isl2 UTSW 9 55,449,555 (GRCm39) missense probably damaging 1.00
Z1176:Isl2 UTSW 9 55,449,499 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTGGTGCAAAAGCTGACCTAACTC -3'
(R):5'- GCTCCTGGATTACCTGCTCAAAGAC -3'

Sequencing Primer
(F):5'- AAGCTGACCTAACTCTAATGCCTTG -3'
(R):5'- CATTAAAACCGGGTTAGTGTCAGC -3'
Posted On 2013-07-11