Incidental Mutation 'R3737:Isl2'
ID 270174
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 040724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3737 (G1)
Quality Score 161
Status Not validated
Chromosome 9
Chromosomal Location 55445956-55453464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55449754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 119 (S119G)
Ref Sequence ENSEMBL: ENSMUSP00000139485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950]
AlphaFold Q9CXV0
Predicted Effect probably benign
Transcript: ENSMUST00000034869
AA Change: S108G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: S108G

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: 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
AA Change: S119G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318
AA Change: S119G

DomainStartEndE-ValueType
LIM 37 91 4.09e-11 SMART
LIM 99 152 1.53e-10 SMART
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Bicral A T 17: 47,136,836 (GRCm39) Y125N probably damaging Het
Brd2 A G 17: 34,336,054 (GRCm39) L53S probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Clca3a1 A G 3: 144,436,482 (GRCm39) V867A probably benign Het
Dchs1 T A 7: 105,411,523 (GRCm39) D1531V possibly damaging Het
Dnah9 G A 11: 66,047,734 (GRCm39) Q29* probably null Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Fgfbp1 T C 5: 44,136,938 (GRCm39) Y118C probably damaging Het
Gal3st2c A G 1: 93,937,050 (GRCm39) I332V possibly damaging Het
Gprc6a A C 10: 51,503,007 (GRCm39) N285K probably benign Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Il36rn T C 2: 24,171,215 (GRCm39) F101S probably damaging Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Mon2 A G 10: 122,849,280 (GRCm39) L1340P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 C CAGT 19: 46,069,816 (GRCm39) probably benign Het
Nolc1 CAG CAGTAG 19: 46,069,792 (GRCm39) probably benign Het
Nolc1 GCA GCAACA 19: 46,069,809 (GRCm39) probably benign Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pcm1 T A 8: 41,714,080 (GRCm39) Y215* probably null Het
Pde6c T A 19: 38,128,672 (GRCm39) V212D probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
R3hcc1 C T 14: 69,935,042 (GRCm39) R262Q probably benign Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Ska3 A T 14: 58,049,053 (GRCm39) M306K probably benign Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tprg1l T C 4: 154,244,585 (GRCm39) I137V probably benign Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Ubr3 G A 2: 69,801,578 (GRCm39) probably null Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Usp49 G A 17: 47,983,243 (GRCm39) V83M probably damaging Het
Usp6nl C A 2: 6,445,728 (GRCm39) N568K probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r55 T G 7: 5,150,195 (GRCm39) D76A probably damaging Het
Xrcc6 T C 15: 81,913,832 (GRCm39) Y53H probably damaging Het
Zbtb7c T G 18: 76,270,011 (GRCm39) L33R 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
R0578:Isl2 UTSW 9 55,452,319 (GRCm39) missense probably damaging 0.99
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'- GGAAAACCTACTGCAAGCGG -3'
(R):5'- TCGTACATCCTACTGACGCG -3'

Sequencing Primer
(F):5'- TACTGCAAGCGGGACTACGTC -3'
(R):5'- TTACCTGGCAGATGCAGGC -3'
Posted On 2015-03-18