Incidental Mutation 'IGL01660:Nkx2-2'
ID103149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx2-2
Ensembl Gene ENSMUSG00000027434
Gene NameNK2 homeobox 2
SynonymsNkx2.2, tinman, Nkx-2.2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01660
Quality Score
Status
Chromosome2
Chromosomal Location147177546-147194243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 147185913 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 36 (S36G)
Ref Sequence ENSEMBL: ENSMUSP00000069666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067075] [ENSMUST00000109970]
Predicted Effect probably benign
Transcript: ENSMUST00000067075
AA Change: S36G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069666
Gene: ENSMUSG00000027434
AA Change: S36G

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
HOX 128 190 2.66e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109969
Predicted Effect probably benign
Transcript: ENSMUST00000109970
AA Change: S36G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105596
Gene: ENSMUSG00000027434
AA Change: S36G

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
HOX 128 190 2.66e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172627
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die within a few days of birth with severe hyperglycemia due to arrested differentiation of pancreatic beta cells. Mutant embryos exhibit retarded oligodendrocyte differentiation and a virtual loss of serotonergic neurons at the r2 level of the hindbrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Nkx2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03026:Nkx2-2 APN 2 147185822 missense probably damaging 0.96
R0212:Nkx2-2 UTSW 2 147184170 missense probably damaging 0.99
R4024:Nkx2-2 UTSW 2 147184234 missense probably benign 0.07
R4821:Nkx2-2 UTSW 2 147185843 missense possibly damaging 0.81
R5645:Nkx2-2 UTSW 2 147184399 missense probably damaging 1.00
R6024:Nkx2-2 UTSW 2 147184041 missense probably benign 0.00
R6482:Nkx2-2 UTSW 2 147185976 missense probably damaging 1.00
R7852:Nkx2-2 UTSW 2 147184269 missense probably damaging 1.00
R7859:Nkx2-2 UTSW 2 147177810 missense unknown
Posted On2014-01-21