Incidental Mutation 'R7632:Isl2'
ID 628273
Institutional Source Beutler Lab
Gene Symbol Isl2
Ensembl Gene ENSMUSG00000032318
Gene Name insulin related protein 2 (islet 2)
Synonyms 3110001N10Rik, islet-2, islet 2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7632 (G1)
Quality Score 131.008
Status Validated
Chromosome 9
Chromosomal Location 55538672-55546180 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 55541156 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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 null
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
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 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,631,323 D924G probably benign Het
Armh1 C A 4: 117,213,741 A396S probably benign Het
Atrnl1 A G 19: 57,630,306 D152G probably damaging Het
B3gnt8 A G 7: 25,628,435 I97V possibly damaging Het
Bach1 A G 16: 87,720,143 D524G probably benign Het
BC067074 C A 13: 113,320,886 S1155R Het
Caprin2 T C 6: 148,883,456 S107G probably damaging Het
Ccnb1 A G 13: 100,781,701 I207T probably benign Het
Cdh11 T C 8: 102,673,883 D151G probably damaging Het
Cdh9 A G 15: 16,851,029 probably null Het
Cep83 A T 10: 94,750,640 R433W probably damaging Het
D3Ertd751e A G 3: 41,753,728 E100G probably benign Het
Dchs2 C T 3: 83,348,050 A2351V probably benign Het
Dhx40 T C 11: 86,799,437 T253A probably benign Het
Dqx1 A G 6: 83,059,699 D228G probably benign Het
Dync1h1 T C 12: 110,660,893 M4002T probably benign Het
Flcn C T 11: 59,795,799 W376* probably null Het
Flnc A T 6: 29,446,985 Y1037F probably damaging Het
Fut11 T A 14: 20,695,028 V9E probably benign Het
Fv1 T A 4: 147,869,935 N319K possibly damaging Het
Ghrhr G T 6: 55,384,742 G298V probably benign Het
Gm5800 T A 14: 51,716,448 probably null Het
Grin2b A G 6: 135,732,555 M1331T probably benign Het
Hyou1 A G 9: 44,381,136 probably null Het
Igkv1-117 C A 6: 68,121,808 Q114K probably damaging Het
Igkv4-68 A G 6: 69,305,064 V41A possibly damaging Het
Inpp4b A G 8: 82,046,339 N754S probably damaging Het
Kat2a G A 11: 100,708,596 Q523* probably null Het
Lypd3 T C 7: 24,638,440 F77S possibly damaging Het
Map4k2 T C 19: 6,344,054 L297P probably benign Het
Naca T C 10: 128,040,506 V469A unknown Het
Notch3 C T 17: 32,158,506 V199I probably benign Het
Olfr1294 T C 2: 111,538,176 I38V possibly damaging Het
Olfr1475 T C 19: 13,479,431 M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,597,968 probably null Het
Pcdhb8 A T 18: 37,355,595 I109L probably benign Het
Pde2a A G 7: 101,484,594 D104G possibly damaging Het
Phip A G 9: 82,903,190 V824A probably benign Het
Plekhg4 T C 8: 105,380,150 Y853H probably damaging Het
Plod1 T C 4: 147,927,024 K248R probably damaging Het
Plxnd1 A T 6: 115,976,639 Y656N probably benign Het
Pogz G A 3: 94,856,206 probably null Het
Ppp1r3e T A 14: 54,877,069 S79C probably damaging Het
Pprc1 T A 19: 46,072,282 D1595E probably damaging Het
Ptprq A G 10: 107,711,922 V205A probably benign Het
Rad51ap2 T C 12: 11,457,115 V346A possibly damaging Het
Rgs12 T A 5: 34,965,590 L239H probably damaging Het
Rrp8 T C 7: 105,736,520 probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,579,906 probably benign Het
Scaf1 A T 7: 45,007,079 V792D unknown Het
Scrn2 G T 11: 97,033,142 R284L possibly damaging Het
Sgsm1 T A 5: 113,276,082 Q461L possibly damaging Het
Slc18b1 A G 10: 23,826,182 T434A probably benign Het
Sltm C G 9: 70,586,673 P802R possibly damaging Het
Smc4 CTA CTATA 3: 69,018,067 probably benign Het
Snx33 A T 9: 56,926,418 D122E probably damaging Het
Srebf2 G T 15: 82,185,296 V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 probably benign Het
Tecpr1 C T 5: 144,218,726 V5M probably benign Het
Tfg A G 16: 56,712,634 V54A possibly damaging Het
Tmem237 C T 1: 59,116,901 C30Y probably benign Het
Tmem245 T C 4: 56,916,787 K444R probably benign Het
Trim25 T G 11: 89,015,776 L446R probably null Het
Usp37 T C 1: 74,468,374 T495A probably benign Het
Vmn1r94 T G 7: 20,167,771 T203P probably damaging Het
Ywhah T A 5: 33,026,666 M71K probably benign 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 splice site 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
R7235:Isl2 UTSW 9 55544171 missense probably benign
R7418:Isl2 UTSW 9 55544352 missense probably benign 0.00
R7457:Isl2 UTSW 9 55544956 missense probably benign 0.03
R7705:Isl2 UTSW 9 55542401 missense probably benign 0.03
R7898:Isl2 UTSW 9 55542439 missense probably benign 0.18
R8266:Isl2 UTSW 9 55544124 missense probably benign 0.00
R8409:Isl2 UTSW 9 55542500 missense possibly damaging 0.61
R8738:Isl2 UTSW 9 55545438 missense probably benign 0.00
R9168:Isl2 UTSW 9 55544943 missense probably benign 0.02
X0067:Isl2 UTSW 9 55542271 missense probably damaging 1.00
Z1176:Isl2 UTSW 9 55542215 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCGAACCAATCAGAGCTTTCC -3'
(R):5'- AAGCCACTTGTAGAATCCGC -3'

Sequencing Primer
(F):5'- GAACCAATCAGAGCTTTCCCACTTC -3'
(R):5'- AAGACTTACTCTTGGAATGATCCCC -3'
Posted On 2020-02-21