Incidental Mutation 'IGL03026:Nkx2-2'
ID 408176
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 # IGL03026
Quality Score
Status
Chromosome 2
Chromosomal Location 147019466-147036163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147027742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 66 (Y66C)
Ref Sequence ENSEMBL: ENSMUSP00000069666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067075] [ENSMUST00000109970]
AlphaFold P42586
Predicted Effect probably damaging
Transcript: ENSMUST00000067075
AA Change: Y66C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069666
Gene: ENSMUSG00000027434
AA Change: Y66C

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: Y66C

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105596
Gene: ENSMUSG00000027434
AA Change: Y66C

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,516 (GRCm39) V154A possibly damaging Het
Adcy4 T C 14: 56,015,467 (GRCm39) Y481C probably damaging Het
Adcy5 T C 16: 34,977,412 (GRCm39) V315A probably benign Het
Atf7ip G A 6: 136,582,380 (GRCm39) S1130N possibly damaging Het
Ctss A G 3: 95,446,141 (GRCm39) D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 (GRCm39) K254N probably benign Het
Dnajc10 A G 2: 80,179,647 (GRCm39) D727G probably damaging Het
Dsg3 G A 18: 20,670,029 (GRCm39) probably null Het
Ehmt1 T C 2: 24,742,746 (GRCm39) M478V probably benign Het
Enam A T 5: 88,651,158 (GRCm39) N889I probably benign Het
Exo1 G T 1: 175,736,003 (GRCm39) *148L probably null Het
Fam133b G T 5: 3,609,646 (GRCm39) probably benign Het
Foxj2 G A 6: 122,815,139 (GRCm39) A392T probably benign Het
Gbp4 G T 5: 105,267,866 (GRCm39) A460E possibly damaging Het
H1f5 G A 13: 21,964,117 (GRCm39) probably benign Het
Has3 A T 8: 107,605,242 (GRCm39) I483F probably benign Het
Irak2 T A 6: 113,653,612 (GRCm39) V260E probably damaging Het
Kcnj8 T C 6: 142,512,199 (GRCm39) probably null Het
Lama5 A G 2: 179,837,760 (GRCm39) V936A probably benign Het
Lmo7 C T 14: 102,166,769 (GRCm39) probably benign Het
Morc3 T A 16: 93,659,612 (GRCm39) probably benign Het
Muc6 T C 7: 141,226,414 (GRCm39) probably benign Het
Oaz1 G A 10: 80,664,634 (GRCm39) probably benign Het
Or2y1f A T 11: 49,184,285 (GRCm39) I46F probably damaging Het
Or6c38 G A 10: 128,929,057 (GRCm39) A262V possibly damaging Het
Or6c65 A T 10: 129,603,910 (GRCm39) M182L probably benign Het
Pkd2 A T 5: 104,642,753 (GRCm39) probably benign Het
Plcb4 A G 2: 135,792,349 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,302,695 (GRCm39) probably benign Het
Rfx7 T C 9: 72,526,967 (GRCm39) S1386P probably damaging Het
Ric1 T G 19: 29,577,233 (GRCm39) W1046G probably benign Het
Rrp12 C A 19: 41,861,436 (GRCm39) R957L probably damaging Het
Scn7a T C 2: 66,506,442 (GRCm39) I1482M probably damaging Het
Sema3b T C 9: 107,479,262 (GRCm39) N236S probably damaging Het
Skint6 T A 4: 112,848,441 (GRCm39) probably null Het
Slfn5 T C 11: 82,847,387 (GRCm39) Y91H probably benign Het
Sptbn2 T A 19: 4,774,261 (GRCm39) probably null Het
Szt2 A G 4: 118,249,046 (GRCm39) L546P probably benign Het
Tas1r3 A G 4: 155,946,300 (GRCm39) probably benign Het
Trim75 A G 8: 65,436,438 (GRCm39) V4A probably benign Het
Usp19 T C 9: 108,370,344 (GRCm39) L56P probably damaging Het
Vmn1r181 T G 7: 23,684,000 (GRCm39) I155S possibly damaging Het
Vmn2r43 G T 7: 8,258,096 (GRCm39) D372E probably benign Het
Vstm2b C A 7: 40,551,945 (GRCm39) S99* probably null Het
Wdr11 A G 7: 129,226,060 (GRCm39) D735G probably damaging Het
Wee2 T A 6: 40,438,915 (GRCm39) M346K probably benign Het
Zap70 A G 1: 36,818,798 (GRCm39) K371R possibly damaging Het
Zfp990 A T 4: 145,263,680 (GRCm39) H226L possibly damaging Het
Other mutations in Nkx2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Nkx2-2 APN 2 147,027,833 (GRCm39) missense probably benign 0.03
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 2016-08-02