Incidental Mutation 'IGL01660:Nkx2-2'
ID 103149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkx2-2
Ensembl Gene ENSMUSG00000027434
Gene Name NK2 homeobox 2
Synonyms tinman, Nkx-2.2, Nkx2.2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01660
Quality Score
Status
Chromosome 2
Chromosomal Location 147019466-147036163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147027833 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P42586
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
Acta2 A G 19: 34,229,191 (GRCm39) I66T probably damaging Het
Actl11 T C 9: 107,806,247 (GRCm39) V190A probably benign Het
Ankub1 T A 3: 57,597,817 (GRCm39) Y51F possibly damaging Het
Armh3 A T 19: 45,928,915 (GRCm39) L393H probably damaging Het
Ccdc63 G A 5: 122,249,027 (GRCm39) S434L possibly damaging Het
Cdan1 T A 2: 120,556,134 (GRCm39) I711F possibly damaging Het
Cep170b C A 12: 112,710,594 (GRCm39) N1474K probably damaging Het
Cyp2c40 A G 19: 39,775,254 (GRCm39) S333P probably damaging Het
Dars1 A G 1: 128,343,081 (GRCm39) probably benign Het
Dock3 T A 9: 106,909,563 (GRCm39) probably benign Het
Dsp A G 13: 38,360,471 (GRCm39) I359V possibly damaging Het
Fut8 T G 12: 77,497,032 (GRCm39) L414* probably null Het
Gja1 A G 10: 56,264,544 (GRCm39) Y301C probably damaging Het
Glipr1l1 T C 10: 111,908,184 (GRCm39) S161P probably damaging Het
Gpat4 A T 8: 23,665,354 (GRCm39) probably null Het
Grhl1 T A 12: 24,658,577 (GRCm39) probably null Het
Hectd3 T C 4: 116,853,569 (GRCm39) V181A possibly damaging Het
Htr2a T A 14: 74,943,194 (GRCm39) I258N probably damaging Het
Hyou1 T A 9: 44,292,414 (GRCm39) D83E possibly damaging Het
Myh10 T A 11: 68,676,715 (GRCm39) L862Q probably benign Het
Nsun2 T A 13: 69,771,368 (GRCm39) V326E probably benign Het
Nuak2 T C 1: 132,259,308 (GRCm39) V362A probably benign Het
Nyap2 G A 1: 81,169,642 (GRCm39) C133Y probably damaging Het
Oas2 T C 5: 120,879,288 (GRCm39) T351A probably benign Het
Or11m3 C T 15: 98,396,076 (GRCm39) T241I probably damaging Het
Or5m13 T C 2: 85,748,908 (GRCm39) I213T probably benign Het
Pde4d A T 13: 110,074,606 (GRCm39) I404F probably damaging Het
Pga5 A G 19: 10,652,456 (GRCm39) S95P probably damaging Het
Pitpnm2 A T 5: 124,261,257 (GRCm39) D947E probably damaging Het
Pla2g10 C T 16: 13,545,950 (GRCm39) R28H probably damaging Het
Prlr A G 15: 10,317,676 (GRCm39) D84G probably damaging Het
Rbm15b C T 9: 106,762,908 (GRCm39) G420D probably damaging Het
Tbcd A G 11: 121,496,153 (GRCm39) T1063A probably benign Het
Tmc2 C T 2: 130,102,144 (GRCm39) Q770* probably null Het
Tpo T C 12: 30,169,399 (GRCm39) probably benign Het
Vim A G 2: 13,579,624 (GRCm39) N128D probably damaging Het
Vmn1r21 A T 6: 57,821,222 (GRCm39) I74N probably damaging Het
Vmn2r52 A C 7: 9,893,107 (GRCm39) I677M probably damaging Het
Other mutations in Nkx2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03026:Nkx2-2 APN 2 147,027,742 (GRCm39) missense probably damaging 0.96
R0212:Nkx2-2 UTSW 2 147,026,090 (GRCm39) missense probably damaging 0.99
R4024:Nkx2-2 UTSW 2 147,026,154 (GRCm39) missense probably benign 0.07
R4821:Nkx2-2 UTSW 2 147,027,763 (GRCm39) missense possibly damaging 0.81
R5645:Nkx2-2 UTSW 2 147,026,319 (GRCm39) missense probably damaging 1.00
R6024:Nkx2-2 UTSW 2 147,025,961 (GRCm39) missense probably benign 0.00
R6482:Nkx2-2 UTSW 2 147,027,896 (GRCm39) missense probably damaging 1.00
R7852:Nkx2-2 UTSW 2 147,026,189 (GRCm39) missense probably damaging 1.00
R7859:Nkx2-2 UTSW 2 147,019,730 (GRCm39) missense unknown
R8792:Nkx2-2 UTSW 2 147,019,813 (GRCm39) missense probably benign 0.22
R9633:Nkx2-2 UTSW 2 147,027,686 (GRCm39) missense possibly damaging 0.86
Posted On 2014-01-21