Incidental Mutation 'R5181:Isl2'
ID 397552
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 042761-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5181 (G1)
Quality Score 221
Status Validated
Chromosome 9
Chromosomal Location 55445956-55453464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55449561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 79 (R79L)
Ref Sequence ENSEMBL: ENSMUSP00000130638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950]
AlphaFold Q9CXV0
Predicted Effect probably benign
Transcript: ENSMUST00000034869
AA Change: R79L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: R79L

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
AA Change: R79L

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318
AA Change: R79L

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164373
AA Change: R79L

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318
AA Change: R79L

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: R90L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318
AA Change: R90L

DomainStartEndE-ValueType
LIM 37 91 4.09e-11 SMART
LIM 99 152 1.53e-10 SMART
Meta Mutation Damage Score 0.1126 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (54/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,764,937 (GRCm39) D642E probably benign Het
Anxa2 T C 9: 69,383,347 (GRCm39) V54A probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cdca2 A G 14: 67,917,614 (GRCm39) S595P probably damaging Het
Cenpe G A 3: 134,948,064 (GRCm39) E1208K probably damaging Het
Cfh T C 1: 140,075,384 (GRCm39) probably benign Het
Colq T A 14: 31,279,799 (GRCm39) H9L probably benign Het
Coq8b T C 7: 26,951,747 (GRCm39) I403T possibly damaging Het
Cyrib T A 15: 63,810,526 (GRCm39) M234L probably damaging Het
Dcdc2a C A 13: 25,386,347 (GRCm39) T407K possibly damaging Het
Dennd2b T C 7: 109,155,997 (GRCm39) Y251C probably benign Het
Gask1b A T 3: 79,793,618 (GRCm39) S29C probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Inpp5f A G 7: 128,281,555 (GRCm39) T519A probably damaging Het
Kif9 T A 9: 110,350,336 (GRCm39) D742E probably damaging Het
Lgi2 T A 5: 52,711,792 (GRCm39) K176M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrch4 A G 5: 137,627,665 (GRCm39) D66G probably damaging Het
Milr1 G A 11: 106,645,806 (GRCm39) G116D probably damaging Het
Myof T C 19: 37,921,071 (GRCm39) D1397G possibly damaging Het
Neurod2 T C 11: 98,218,204 (GRCm39) H320R probably benign Het
Nox3 A T 17: 3,685,561 (GRCm39) Y562* probably null Het
Nrap G A 19: 56,333,960 (GRCm39) H884Y possibly damaging Het
Odad4 G A 11: 100,440,719 (GRCm39) D67N probably damaging Het
Pde3a T C 6: 141,426,981 (GRCm39) probably null Het
Pgm2l1 G A 7: 99,910,965 (GRCm39) C303Y probably benign Het
Phip A G 9: 82,753,243 (GRCm39) probably benign Het
Plxna4 A G 6: 32,493,932 (GRCm39) I228T probably damaging Het
Prdm2 A G 4: 142,861,536 (GRCm39) S585P probably benign Het
Prpf6 T C 2: 181,291,339 (GRCm39) I718T probably damaging Het
Rpp40 T C 13: 36,080,695 (GRCm39) probably null Het
Skic2 T C 17: 35,063,802 (GRCm39) D547G probably benign Het
Slc22a22 T A 15: 57,118,519 (GRCm39) Y264F probably benign Het
Slc5a4b A T 10: 75,896,221 (GRCm39) L578* probably null Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Sult2a4 T G 7: 13,722,316 (GRCm39) I50L probably benign Het
Taar6 T C 10: 23,860,683 (GRCm39) T288A possibly damaging Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmem98 T C 11: 80,710,758 (GRCm39) V139A probably damaging Het
Triobp T C 15: 78,851,954 (GRCm39) Y703H probably benign Het
Ttc34 A G 4: 154,946,703 (GRCm39) T868A probably benign Het
Ttn C T 2: 76,665,225 (GRCm39) probably benign Het
Vipas39 A T 12: 87,286,601 (GRCm39) W470R probably damaging Het
Vmn2r102 T C 17: 19,897,003 (GRCm39) Y117H probably benign Het
Vmn2r111 T C 17: 22,790,001 (GRCm39) N335S possibly damaging Het
Vmn2r70 A G 7: 85,208,387 (GRCm39) Y697H probably damaging Het
Wnk4 C A 11: 101,156,203 (GRCm39) R461S probably damaging Het
Xylb T A 9: 119,193,567 (GRCm39) L87Q probably damaging Het
Zcchc9 T A 13: 91,945,281 (GRCm39) K101* probably null Het
Zfp503 C A 14: 22,035,705 (GRCm39) A404S probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R 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
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
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'- GGTCTCACTTTTAGAGCGGG -3'
(R):5'- TCGTACATCCTACTGACGCG -3'

Sequencing Primer
(F):5'- GCCCTTCCCTGCTAGAGAAG -3'
(R):5'- TTACCTGGCAGATGCAGGC -3'
Posted On 2016-07-06