Incidental Mutation 'R5490:Nkx2-3'
ID 432067
Institutional Source Beutler Lab
Gene Symbol Nkx2-3
Ensembl Gene ENSMUSG00000044220
Gene Name NK2 homeobox 3
Synonyms Nkx-2.3, Nkx2.3, tinman
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.584) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 43600764-43604331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43601093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 52 (T52S)
Ref Sequence ENSEMBL: ENSMUSP00000050933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057178]
AlphaFold P97334
Predicted Effect probably benign
Transcript: ENSMUST00000057178
AA Change: T52S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050933
Gene: ENSMUSG00000044220
AA Change: T52S

DomainStartEndE-ValueType
low complexity region 58 67 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
HOX 145 207 2.39e-24 SMART
low complexity region 215 227 N/A INTRINSIC
low complexity region 294 310 N/A INTRINSIC
low complexity region 330 337 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172872
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption. Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Nkx2-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Nkx2-3 APN 19 43,601,094 (GRCm39) missense possibly damaging 0.59
R1647:Nkx2-3 UTSW 19 43,602,895 (GRCm39) missense probably damaging 1.00
R4704:Nkx2-3 UTSW 19 43,601,123 (GRCm39) missense probably damaging 0.96
R4718:Nkx2-3 UTSW 19 43,601,082 (GRCm39) missense probably benign 0.08
R5189:Nkx2-3 UTSW 19 43,601,147 (GRCm39) missense probably benign 0.30
R5770:Nkx2-3 UTSW 19 43,602,972 (GRCm39) missense probably damaging 1.00
R7124:Nkx2-3 UTSW 19 43,603,245 (GRCm39) missense possibly damaging 0.84
R7457:Nkx2-3 UTSW 19 43,600,986 (GRCm39) missense probably damaging 1.00
R7843:Nkx2-3 UTSW 19 43,603,321 (GRCm39) missense probably benign 0.02
X0061:Nkx2-3 UTSW 19 43,602,801 (GRCm39) missense probably benign 0.08
Z1177:Nkx2-3 UTSW 19 43,603,176 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGACAATTAAGTGGCCCTGATG -3'
(R):5'- CCTAGCCGAATGTGAAAGGG -3'

Sequencing Primer
(F):5'- TGATGATGTTACCAAGCCCG -3'
(R):5'- CCATGCAGGCACGGTTTG -3'
Posted On 2016-10-05