Incidental Mutation 'R6324:Nkx2-5'
ID 510672
Institutional Source Beutler Lab
Gene Symbol Nkx2-5
Ensembl Gene ENSMUSG00000015579
Gene Name NK2 homeobox 5
Synonyms Csx, Nkx-2.5, tinman, Nkx2.5
MMRRC Submission 044478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6324 (G1)
Quality Score 224.009
Status Validated
Chromosome 17
Chromosomal Location 27057638-27063962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 27060095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 79 (P79A)
Ref Sequence ENSEMBL: ENSMUSP00000015723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015723]
AlphaFold P42582
Predicted Effect probably benign
Transcript: ENSMUST00000015723
AA Change: P79A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015723
Gene: ENSMUSG00000015579
AA Change: P79A

DomainStartEndE-ValueType
low complexity region 98 110 N/A INTRINSIC
HOX 137 199 1.26e-23 SMART
low complexity region 203 221 N/A INTRINSIC
low complexity region 266 282 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants show cardiac development arrest after looping, growth retardation, hematopoiesis and angiogenesis defects in yolk sac, and die at embryonic day 9-10. Heterozygotes also show cardiac developmental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp13a3 A G 16: 30,151,103 (GRCm39) V1069A possibly damaging Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2b A G 2: 59,737,292 (GRCm39) S1877P probably damaging Het
Ccdc27 A T 4: 154,120,648 (GRCm39) S383T probably benign Het
Cr1l A G 1: 194,793,430 (GRCm39) V377A probably benign Het
Dazap1 A G 10: 80,113,494 (GRCm39) E130G probably benign Het
Dchs1 G T 7: 105,414,145 (GRCm39) A890E probably benign Het
Dock10 G A 1: 80,482,893 (GRCm39) T2143I probably benign Het
Eif3j1 A G 2: 121,871,659 (GRCm39) D60G probably benign Het
Enah A G 1: 181,746,136 (GRCm39) S382P probably damaging Het
Fam171b A T 2: 83,709,608 (GRCm39) K427* probably null Het
Fmn2 A T 1: 174,440,119 (GRCm39) I1179L possibly damaging Het
Focad C T 4: 88,319,305 (GRCm39) R1505* probably null Het
Frem1 T C 4: 82,901,574 (GRCm39) T985A probably benign Het
Gm3404 A T 5: 146,464,917 (GRCm39) Q219L possibly damaging Het
Gm5592 A C 7: 40,935,959 (GRCm39) S154R probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gpr158 A G 2: 21,815,365 (GRCm39) E586G probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Lin7a T A 10: 107,216,076 (GRCm39) probably null Het
Loxl4 G A 19: 42,583,817 (GRCm39) L745F probably benign Het
Ms4a19 T A 19: 11,140,811 (GRCm39) M3L probably benign Het
Mybpc1 A G 10: 88,404,481 (GRCm39) I172T possibly damaging Het
Nalcn A G 14: 123,647,161 (GRCm39) W571R possibly damaging Het
Nufip2 A G 11: 77,582,487 (GRCm39) T134A probably benign Het
Odad1 A G 7: 45,591,134 (GRCm39) E203G probably damaging Het
Or13p4 G A 4: 118,547,728 (GRCm39) probably benign Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or5b109 A G 19: 13,212,468 (GRCm39) M285V possibly damaging Het
Phkb A G 8: 86,745,171 (GRCm39) D616G probably benign Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prl7b1 A T 13: 27,786,878 (GRCm39) probably null Het
Prop1 G A 11: 50,843,026 (GRCm39) P54S probably benign Het
Ptcd3 C T 6: 71,862,311 (GRCm39) V509I probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rapgef2 C T 3: 78,986,439 (GRCm39) V1182I probably benign Het
Rfx7 C A 9: 72,525,696 (GRCm39) P962Q probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc38a9 A G 13: 112,862,634 (GRCm39) I444M probably benign Het
Sorbs1 T C 19: 40,310,263 (GRCm39) T492A probably damaging Het
Synj1 A T 16: 90,735,518 (GRCm39) S1478R probably benign Het
Tnn T A 1: 159,972,774 (GRCm39) N276I probably damaging Het
Trbv19 G A 6: 41,155,692 (GRCm39) G21D probably damaging Het
Ube2o A T 11: 116,430,185 (GRCm39) D1184E probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r108 A T 17: 20,691,977 (GRCm39) L182* probably null Het
Vmn2r15 A G 5: 109,434,137 (GRCm39) *856R probably null Het
Vmn2r70 G A 7: 85,208,087 (GRCm39) H797Y probably benign Het
Zfp11 C T 5: 129,733,587 (GRCm39) A625T possibly damaging Het
Other mutations in Nkx2-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1464:Nkx2-5 UTSW 17 27,058,253 (GRCm39) missense probably benign 0.01
R1464:Nkx2-5 UTSW 17 27,058,253 (GRCm39) missense probably benign 0.01
R5836:Nkx2-5 UTSW 17 27,058,063 (GRCm39) missense possibly damaging 0.82
R6868:Nkx2-5 UTSW 17 27,060,268 (GRCm39) missense probably damaging 1.00
R7223:Nkx2-5 UTSW 17 27,058,594 (GRCm39) missense possibly damaging 0.94
R7962:Nkx2-5 UTSW 17 27,058,150 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGCCTGGAATCTTATACTCCAAAC -3'
(R):5'- ACATCCTGAACCTGGAGCAG -3'

Sequencing Primer
(F):5'- ACTGAGCTACTGTCAGGCCTG -3'
(R):5'- ACCTGGAGCAGCAGCAG -3'
Posted On 2018-04-02