Incidental Mutation 'R5189:Nkx2-3'
ID 405079
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 042767-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # R5189 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 43600764-43604331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 43601147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 70 (S70A)
Ref Sequence ENSEMBL: ENSMUSP00000050933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057178]
AlphaFold P97334
Predicted Effect probably benign
Transcript: ENSMUST00000057178
AA Change: S70A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000050933
Gene: ENSMUSG00000044220
AA Change: S70A

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik C T 12: 71,240,123 (GRCm39) T1311I possibly damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930505A04Rik T C 11: 30,376,169 (GRCm39) T233A probably damaging Het
Ankar T C 1: 72,697,573 (GRCm39) I859V probably benign Het
Cacnb2 G T 2: 14,990,849 (GRCm39) A644S possibly damaging Het
Gatb T C 3: 85,544,238 (GRCm39) V402A probably benign Het
Gpcpd1 T C 2: 132,395,892 (GRCm39) K153R probably damaging Het
Hip1 A G 5: 135,463,147 (GRCm39) L60S probably damaging Het
Hsf4 GCAGCACCGGGTCA G 8: 105,998,060 (GRCm39) probably null Het
Hydin A T 8: 111,139,843 (GRCm39) probably null Het
Igsf3 A T 3: 101,338,843 (GRCm39) T386S possibly damaging Het
Il12rb1 A G 8: 71,263,702 (GRCm39) T88A possibly damaging Het
Kank1 T C 19: 25,401,545 (GRCm39) S1051P probably damaging Het
Kap A G 6: 133,828,879 (GRCm39) probably null Het
Ly96 A G 1: 16,771,091 (GRCm39) E74G probably damaging Het
Map7d1 G T 4: 126,136,097 (GRCm39) probably null Het
Megf6 G T 4: 154,336,980 (GRCm39) R253L probably benign Het
Mex3b A G 7: 82,518,459 (GRCm39) D258G probably damaging Het
Mpzl3 T C 9: 44,973,408 (GRCm39) I49T possibly damaging Het
Myh15 C A 16: 48,921,870 (GRCm39) T472N probably benign Het
Nacad A G 11: 6,551,611 (GRCm39) S527P probably damaging Het
Nkx2-6 A T 14: 69,409,342 (GRCm39) Q31L probably benign Het
Or6ae1 A G 7: 139,742,632 (GRCm39) V77A probably damaging Het
Pcdha6 A T 18: 37,101,844 (GRCm39) N346Y probably damaging Het
Pkd2 G A 5: 104,607,785 (GRCm39) D95N probably benign Het
Pkhd1l1 A G 15: 44,410,544 (GRCm39) T2684A probably damaging Het
Plin2 A G 4: 86,575,383 (GRCm39) Y389H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc41a2 T C 10: 83,149,275 (GRCm39) probably null Het
Smg6 A G 11: 74,932,822 (GRCm39) T1038A probably damaging Het
Suds3 T C 5: 117,238,664 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,424,213 (GRCm39) H626R probably benign Het
Tmem260 T A 14: 48,746,573 (GRCm39) H616Q probably benign Het
Trip10 A T 17: 57,568,288 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Vmn1r84 A T 7: 12,096,385 (GRCm39) S103T probably benign Het
Vps13a G T 19: 16,662,679 (GRCm39) P1602Q 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
R5490:Nkx2-3 UTSW 19 43,601,093 (GRCm39) missense probably benign 0.00
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'- ATGTTACCAAGCCCGGTCAC -3'
(R):5'- ACCCTAGCCGAATGTGAAAGG -3'

Sequencing Primer
(F):5'- CCACCCCTTTCTCAGTCAAAG -3'
(R):5'- CCATGCAGGCACGGTTTG -3'
Posted On 2016-07-22