Incidental Mutation 'R7705:Isl2'
ID 594240
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 045766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7705 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55445956-55453464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55449685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 85 (F85L)
Ref Sequence ENSEMBL: ENSMUSP00000034869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950]
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 benign
Transcript: ENSMUST00000034869
AA Change: F85L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: F85L

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 possibly damaging
Transcript: ENSMUST00000175950
AA Change: F96L

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318
AA Change: F96L

DomainStartEndE-ValueType
LIM 37 91 4.09e-11 SMART
LIM 99 152 1.53e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 G A 3: 59,784,168 (GRCm39) A214T probably benign Het
Abcb9 G T 5: 124,220,018 (GRCm39) Y342* probably null Het
Acad9 C T 3: 36,142,675 (GRCm39) T470M probably benign Het
Ankmy2 A G 12: 36,245,107 (GRCm39) E379G probably benign Het
Cand1 A G 10: 119,048,343 (GRCm39) probably null Het
Ccdc171 A G 4: 83,476,193 (GRCm39) T203A possibly damaging Het
Cpeb4 A G 11: 31,822,327 (GRCm39) T14A probably damaging Het
Cplane1 T G 15: 8,211,736 (GRCm39) F359V probably damaging Het
Crtap A T 9: 114,210,747 (GRCm39) C276S probably damaging Het
Csf2rb2 T C 15: 78,168,774 (GRCm39) I794V probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T A 5: 122,007,736 (GRCm39) M642L probably benign Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Dytn A G 1: 63,717,948 (GRCm39) L29P probably damaging Het
E2f3 G A 13: 30,169,306 (GRCm39) R116C probably benign Het
Edc3 T C 9: 57,647,197 (GRCm39) V282A probably benign Het
Epha1 A G 6: 42,339,602 (GRCm39) V630A probably damaging Het
Erc1 A G 6: 119,801,564 (GRCm39) I151T probably benign Het
Fam83h C T 15: 75,875,699 (GRCm39) R546H probably damaging Het
Fbxl14 A T 6: 119,457,742 (GRCm39) K308* probably null Het
Fbxw24 A T 9: 109,437,516 (GRCm39) probably null Het
Gldn T A 9: 54,245,976 (GRCm39) M509K probably benign Het
Gpr139 T C 7: 118,743,866 (GRCm39) I240V probably benign Het
Herc1 G T 9: 66,347,116 (GRCm39) M1990I possibly damaging Het
Hmgcr A G 13: 96,793,231 (GRCm39) I467T probably benign Het
Lat T C 7: 125,963,612 (GRCm39) N197D probably damaging Het
Marchf1 T C 8: 66,921,169 (GRCm39) V282A probably benign Het
Meiosin T A 7: 18,835,044 (GRCm39) D393V unknown Het
Mrpl9 A G 3: 94,351,075 (GRCm39) H85R possibly damaging Het
Mterf2 G T 10: 84,956,381 (GRCm39) A81E probably damaging Het
Mtr A G 13: 12,264,782 (GRCm39) C107R probably benign Het
Nlrp4c T A 7: 6,075,635 (GRCm39) V642E probably damaging Het
Or5b12b A G 19: 12,861,871 (GRCm39) I209V probably benign Het
Or6c212 T A 10: 129,559,018 (GRCm39) I132F probably benign Het
Pdik1l A G 4: 134,006,804 (GRCm39) S112P unknown Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Rest T A 5: 77,416,119 (GRCm39) L111Q probably damaging Het
Slc28a2b A C 2: 122,352,110 (GRCm39) probably null Het
Spg7 A C 8: 123,800,617 (GRCm39) D169A possibly damaging Het
Syt3 T C 7: 44,042,083 (GRCm39) V314A possibly damaging Het
Tbc1d20 G C 2: 152,150,004 (GRCm39) G144R probably damaging Het
Tlk1 A T 2: 70,617,016 (GRCm39) probably null Het
Tmem147 T G 7: 30,427,716 (GRCm39) probably null Het
Trip12 A T 1: 84,755,170 (GRCm39) D401E probably damaging Het
Ulbp1 A G 10: 7,395,685 (GRCm39) S291P unknown Het
Usp19 A G 9: 108,379,112 (GRCm39) D1286G possibly damaging Het
Usp49 T C 17: 47,989,873 (GRCm39) F553L probably damaging Het
Zfp352 A G 4: 90,113,512 (GRCm39) T551A possibly 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
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
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'- AGTTTATCCTTCGCGTGTCG -3'
(R):5'- AGTCGTACATCCTACTGACGCG -3'

Sequencing Primer
(F):5'- CAGTACCTGGACGAGACGTG -3'
(R):5'- TTACCTGGCAGATGCAGGC -3'
Posted On 2019-11-12