Incidental Mutation 'R7859:Nkx2-2'
ID 607353
Institutional Source Beutler Lab
Gene Symbol Nkx2-2
Ensembl Gene ENSMUSG00000027434
Gene Name NK2 homeobox 2
Synonyms tinman, Nkx-2.2, Nkx2.2
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 147019466-147036163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 147019730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 236 (C236R)
Ref Sequence ENSEMBL: ENSMUSP00000105596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109970]
AlphaFold P42586
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: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Nkx2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Nkx2-2 APN 2 147,027,833 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TGGCACAGGAAACATTTTGAAG -3'
(R):5'- AAATCAGTCCACCTTGGCG -3'

Sequencing Primer
(F):5'- CAATTGTGGTGGTGACAGTAAC -3'
(R):5'- TTGGCGCTCCAGACACTGATC -3'
Posted On 2019-12-20