Incidental Mutation 'R7235:Isl2'
ID574563
Institutional Source Beutler Lab
Gene Symbol Isl2
Ensembl Gene ENSMUSG00000032318
Gene Nameinsulin related protein 2 (islet 2)
Synonyms3110001N10Rik, islet-2, islet 2
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7235 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location55538672-55546180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55544171 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 115 (T115I)
Ref Sequence ENSEMBL: ENSMUSP00000130638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950]
Predicted Effect silent
Transcript: ENSMUST00000034869
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318

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: T115I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318
AA Change: T115I

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: T115I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318
AA Change: T115I

DomainStartEndE-ValueType
LIM 26 80 4.09e-11 SMART
low complexity region 123 141 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T G 2: 85,500,219 H248P probably damaging Het
Ahnak T A 19: 9,012,488 M3712K unknown Het
Bri3bp A G 5: 125,441,684 E8G unknown Het
Brip1 C T 11: 86,138,875 R611Q possibly damaging Het
C330027C09Rik T A 16: 49,001,059 L176H probably damaging Het
Carm1 T G 9: 21,587,405 probably benign Het
Catsper4 A T 4: 134,212,581 probably null Het
Ccng2 C G 5: 93,273,343 S237R probably benign Het
Clk4 A G 11: 51,276,185 D330G probably damaging Het
Dcdc2c A G 12: 28,470,719 S453P Het
Ddx46 G A 13: 55,663,240 V550I probably benign Het
Dennd1a T C 2: 37,801,061 N676D probably benign Het
Dnah3 T C 7: 120,032,670 N1365S probably damaging Het
Dsg1b T C 18: 20,399,423 V508A probably benign Het
Dus2 T C 8: 106,015,955 V39A possibly damaging Het
Dync1li1 T C 9: 114,715,163 V301A possibly damaging Het
Efcc1 T G 6: 87,753,798 S513A probably benign Het
Eif3f T C 7: 108,938,088 V167A possibly damaging Het
Ephb2 A G 4: 136,693,828 Y404H probably damaging Het
Eqtn A T 4: 94,923,699 D152E probably damaging Het
Ercc5 A C 1: 44,178,203 K902T possibly damaging Het
Erlec1 T A 11: 30,950,751 E139V possibly damaging Het
Evl G A 12: 108,648,460 G38R probably damaging Het
Foxd2 T C 4: 114,908,271 N184S unknown Het
Frem3 T C 8: 80,690,725 Y2020H probably benign Het
Ganc T C 2: 120,433,717 F384L probably damaging Het
Gm11756 G T 4: 73,917,571 L219M probably benign Het
Grin2a A G 16: 9,579,265 L986P probably damaging Het
Ift140 A T 17: 25,020,645 D92V possibly damaging Het
Inpp5b A G 4: 124,751,392 K158E probably benign Het
Iscu T A 5: 113,776,882 S152T probably benign Het
Kalrn T A 16: 34,175,761 T1542S probably benign Het
Kat6a A G 8: 22,914,269 D454G possibly damaging Het
Kcnj10 T C 1: 172,369,426 I169T probably damaging Het
Klk12 T C 7: 43,773,299 S217P probably damaging Het
Lancl1 T C 1: 67,038,535 N14S probably benign Het
Map2 A G 1: 66,414,648 Y899C probably damaging Het
Nr1h5 C T 3: 102,949,042 probably null Het
Nup98 T C 7: 102,125,284 T1515A probably damaging Het
Obscn A C 11: 59,080,840 V2183G probably damaging Het
Olfr666 C T 7: 104,892,719 R303Q probably benign Het
Osbpl8 A G 10: 111,269,427 T248A probably benign Het
Pias3 T A 3: 96,704,363 S533T probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 probably benign Het
Plxna1 A G 6: 89,340,591 Y680H probably damaging Het
Pnliprp2 A G 19: 58,775,227 N436S probably benign Het
Pold1 T A 7: 44,541,820 M196L probably benign Het
Prkdc G A 16: 15,714,263 V1464I probably benign Het
Ptk2b G A 14: 66,157,087 Q857* probably null Het
Qars T A 9: 108,510,132 L185Q probably damaging Het
Rabep1 A G 11: 70,940,464 N859S probably benign Het
Rnf19b A G 4: 129,083,778 H156R Het
Sart3 T C 5: 113,753,642 Q423R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,819,695 probably benign Het
Slc6a21 C T 7: 45,280,758 H194Y probably damaging Het
Tcf4 G A 18: 69,657,795 V420I probably damaging Het
Tjp1 T C 7: 65,318,573 D701G probably benign Het
Trim42 T C 9: 97,369,708 D46G probably damaging Het
Usp19 C T 9: 108,494,924 R429* probably null Het
Uxs1 T C 1: 43,764,927 N276S probably damaging Het
Vps50 A G 6: 3,588,078 I684V probably benign Het
Yars2 T A 16: 16,304,692 D307E probably benign Het
Zfp934 A T 13: 62,518,150 C258S Het
Other mutations in Isl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Isl2 APN 9 55544969 missense possibly damaging 0.90
IGL01123:Isl2 APN 9 55545462 missense probably damaging 1.00
IGL01773:Isl2 APN 9 55544220 missense probably damaging 1.00
IGL02801:Isl2 APN 9 55545532 unclassified probably null
R0578:Isl2 UTSW 9 55545035 missense probably damaging 0.99
R3737:Isl2 UTSW 9 55542470 missense probably benign 0.17
R4035:Isl2 UTSW 9 55542470 missense probably benign 0.17
R4750:Isl2 UTSW 9 55544312 missense probably benign 0.21
R4851:Isl2 UTSW 9 55544987 missense possibly damaging 0.64
R5107:Isl2 UTSW 9 55542286 missense probably benign 0.17
R5181:Isl2 UTSW 9 55542277 missense probably benign 0.33
R6724:Isl2 UTSW 9 55541288 missense possibly damaging 0.92
R7418:Isl2 UTSW 9 55544352 missense probably benign 0.00
R7457:Isl2 UTSW 9 55544956 missense probably benign 0.03
R7632:Isl2 UTSW 9 55541156 utr 5 prime probably null
R7705:Isl2 UTSW 9 55542401 missense probably benign 0.03
R7898:Isl2 UTSW 9 55542439 missense probably benign 0.18
R7981:Isl2 UTSW 9 55542439 missense probably benign 0.18
X0067:Isl2 UTSW 9 55542271 missense probably damaging 1.00
Z1176:Isl2 UTSW 9 55542215 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGCATTTTCCCTCTGGGTAAG -3'
(R):5'- CTGCTGTAGCTGCTTCATGAG -3'

Sequencing Primer
(F):5'- TTCCCTCTGGGTAAGGCGAG -3'
(R):5'- AGCTGCTTCATGAGAATGGACTTC -3'
Posted On2019-09-18