Incidental Mutation 'R7859:Nkx2-2'
ID607353
Institutional Source Beutler Lab
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 #R7859 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location147177546-147194243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 147177810 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 236 (C236R)
Ref Sequence ENSEMBL: ENSMUSP00000105596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109970]
Predicted Effect unknown
Transcript: ENSMUST00000109970
AA Change: C236R
SMART Domains Protein: ENSMUSP00000105596
Gene: ENSMUSG00000027434
AA Change: C236R

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
HOX 128 190 2.66e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,384,526 L564P probably damaging Het
Arsb T A 13: 93,862,107 S308T probably benign Het
Atxn10 A G 15: 85,462,325 D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,042,160 probably benign Het
Cd300a T C 11: 114,893,339 Y58H probably benign Het
Crkl T A 16: 17,469,096 M172K probably damaging Het
Cyfip1 T C 7: 55,900,026 I647T probably damaging Het
Dlgap1 A G 17: 70,516,688 T223A probably benign Het
Dmtf1 T C 5: 9,128,044 S372G probably damaging Het
Dock8 G A 19: 25,183,570 V1814M probably damaging Het
Dusp22 A C 13: 30,708,754 K171N probably benign Het
Evi2a T C 11: 79,527,626 S53G probably benign Het
Ipcef1 T A 10: 6,890,569 D376V probably damaging Het
Kndc1 A T 7: 139,920,964 D723V possibly damaging Het
Kti12 A C 4: 108,848,246 E119A probably benign Het
Kti12 G T 4: 108,848,247 E119D probably benign Het
Mcur1 G A 13: 43,560,009 R40* probably null Het
Mgam T A 6: 40,740,179 N265K possibly damaging Het
Muc6 G A 7: 141,645,420 T1069I probably damaging Het
Myh2 T C 11: 67,186,700 L887P probably damaging Het
Myo1d T G 11: 80,684,377 D171A probably damaging Het
Nat2 T A 8: 67,501,350 F37L probably damaging Het
Nrl G A 14: 55,522,125 S115L probably benign Het
Nrsn1 A C 13: 25,262,271 S41A probably damaging Het
Olfr1448 T A 19: 12,919,982 E109V probably damaging Het
Pax8 T A 2: 24,421,555 H456L possibly damaging Het
Pkd1 T A 17: 24,571,280 I979K probably damaging Het
Prex2 A G 1: 11,080,050 N149D probably damaging Het
Psg28 A T 7: 18,426,224 V349D probably damaging Het
Ptpro G A 6: 137,392,807 probably null Het
Sema4d T A 13: 51,722,351 K94N probably benign Het
Slc22a22 A T 15: 57,250,952 D326E probably benign Het
Slc25a29 G A 12: 108,826,830 T274I probably benign Het
Slc43a1 T C 2: 84,856,876 F374L possibly damaging Het
Syne1 G T 10: 5,157,683 Q520K possibly damaging Het
Taar4 T C 10: 23,961,134 V214A probably benign Het
Tex22 T A 12: 113,088,483 C54S possibly damaging Het
Tmem2 T A 19: 21,832,175 I973N possibly damaging Het
Tpo T A 12: 30,100,574 I436F probably damaging Het
Usp53 T C 3: 122,949,766 H507R possibly damaging Het
Usp54 T C 14: 20,588,136 E255G probably benign Het
Vmn2r109 G T 17: 20,541,174 F640L probably damaging Het
Vmn2r124 A G 17: 18,061,950 Y80C probably damaging Het
Vmn2r27 A T 6: 124,224,242 I252K probably benign Het
Zfp457 A G 13: 67,306,381 probably benign Het
Other mutations in Nkx2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Nkx2-2 APN 2 147185913 missense probably benign 0.03
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
Predicted Primers PCR Primer
(F):5'- TGGCACAGGAAACATTTTGAAG -3'
(R):5'- AAATCAGTCCACCTTGGCG -3'

Sequencing Primer
(F):5'- CAATTGTGGTGGTGACAGTAAC -3'
(R):5'- TTGGCGCTCCAGACACTGATC -3'
Posted On2019-12-20