Incidental Mutation 'R7962:Nkx2-5'
ID 650188
Institutional Source Beutler Lab
Gene Symbol Nkx2-5
Ensembl Gene ENSMUSG00000015579
Gene Name NK2 homeobox 5
Synonyms Csx, Nkx-2.5, tinman, Nkx2.5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7962 (G1)
Quality Score 161.009
Status Not validated
Chromosome 17
Chromosomal Location 27057638-27063962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27058150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
Ref Sequence ENSEMBL: ENSMUSP00000015723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015723]
AlphaFold P42582
Predicted Effect probably damaging
Transcript: ENSMUST00000015723
AA Change: Y268C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015723
Gene: ENSMUSG00000015579
AA Change: Y268C

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
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.] 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,296,428 (GRCm39) F991L probably damaging Het
Ahnak A G 19: 8,990,164 (GRCm39) D3816G unknown Het
Arhgdig T C 17: 26,418,608 (GRCm39) T153A probably damaging Het
Ash2l T C 8: 26,329,792 (GRCm39) D122G probably damaging Het
Bora A G 14: 99,310,162 (GRCm39) K497R probably benign Het
Btbd9 T C 17: 30,736,177 (GRCm39) H312R probably damaging Het
Cbr2 T C 11: 120,620,609 (GRCm39) D225G probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap70 G A 14: 20,486,854 (GRCm39) T275M probably benign Het
Clca4b T C 3: 144,622,421 (GRCm39) D548G possibly damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyp3a44 T A 5: 145,738,135 (GRCm39) I57L probably benign Het
Dbx2 C T 15: 95,552,199 (GRCm39) G149S probably benign Het
Dennd2a A G 6: 39,457,207 (GRCm39) V745A possibly damaging Het
Dock10 A T 1: 80,564,085 (GRCm39) S509R possibly damaging Het
Enpp3 T C 10: 24,660,752 (GRCm39) Y630C probably damaging Het
Eomes C T 9: 118,307,574 (GRCm39) probably benign Het
Fchsd1 A T 18: 38,097,212 (GRCm39) V385E probably damaging Het
Flg A T 3: 93,193,984 (GRCm39) H34L unknown Het
Frs3 G T 17: 48,010,463 (GRCm39) E32D possibly damaging Het
Gm14443 C T 2: 175,012,035 (GRCm39) C137Y probably benign Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Havcr1 T A 11: 46,643,402 (GRCm39) C107* probably null Het
Hectd4 C T 5: 121,448,692 (GRCm39) R347W probably damaging Het
Hspbp1 A G 7: 4,684,841 (GRCm39) probably null Het
Irs1 C T 1: 82,266,443 (GRCm39) R591H possibly damaging Het
Kif5b A G 18: 6,241,040 (GRCm39) V23A probably benign Het
Myo1e A T 9: 70,242,501 (GRCm39) I339F possibly damaging Het
Or7g12 T C 9: 18,899,952 (GRCm39) S223P probably damaging Het
Polrmt T C 10: 79,574,623 (GRCm39) M857V probably damaging Het
Prkd3 T A 17: 79,315,691 (GRCm39) M1L not run Het
Prss3b A C 6: 41,012,387 (GRCm39) F9C probably benign Het
Psmc3 T A 2: 90,887,007 (GRCm39) V202E possibly damaging Het
Rab3d G A 9: 21,826,229 (GRCm39) R93C probably damaging Het
Rasgrf2 A C 13: 92,167,300 (GRCm39) Y258D probably damaging Het
Rassf8 G A 6: 145,761,669 (GRCm39) probably null Het
Rcbtb1 A C 14: 59,459,016 (GRCm39) S199R probably benign Het
Rif1 T G 2: 51,964,288 (GRCm39) V45G probably damaging Het
Riok3 G A 18: 12,269,776 (GRCm39) G69E probably benign Het
Scn1a A G 2: 66,158,786 (GRCm39) L378P probably damaging Het
Sil1 A T 18: 35,481,719 (GRCm39) N113K probably benign Het
Slc35c2 C T 2: 165,119,462 (GRCm39) D293N probably damaging Het
Slc37a3 A T 6: 39,324,325 (GRCm39) S308T possibly damaging Het
Smarca5 A T 8: 81,463,388 (GRCm39) V60E probably benign Het
Smok3c T A 5: 138,063,341 (GRCm39) V276D probably damaging Het
Snx29 G A 16: 11,231,221 (GRCm39) probably null Het
Spata24 T C 18: 35,795,093 (GRCm39) E30G probably damaging Het
Stard13 T A 5: 150,975,838 (GRCm39) I777F probably damaging Het
Synpo2 A G 3: 123,029,635 (GRCm39) C8R probably benign Het
Tmem104 T C 11: 115,134,307 (GRCm39) V281A probably damaging Het
Tmprss11a C T 5: 86,567,879 (GRCm39) G283R probably damaging Het
Trpc2 G A 7: 101,738,388 (GRCm39) V457M probably benign Het
Usp53 A T 3: 122,728,000 (GRCm39) S861T possibly damaging Het
Uty G T Y: 1,154,210 (GRCm39) S738* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Wdr7 A T 18: 64,037,157 (GRCm39) S1194C probably damaging Het
Zyx A C 6: 42,333,505 (GRCm39) D477A probably 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
R6324:Nkx2-5 UTSW 17 27,060,095 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- AAACGGGCTCTTTCCCTACC -3'
(R):5'- TACAAGTGCAAGCGACAGC -3'

Sequencing Primer
(F):5'- TTCCCTACCAGGCTCGGATG -3'
(R):5'- CAGACTCTGGAGCTTCTGGG -3'
Posted On 2020-09-15