Incidental Mutation 'R3782:Nkx1-2'
ID 272085
Institutional Source Beutler Lab
Gene Symbol Nkx1-2
Ensembl Gene ENSMUSG00000048528
Gene Name NK1 homeobox 2
Synonyms Sax1, Nkx-1.2, Nkx-1.1
MMRRC Submission 040751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R3782 (G1)
Quality Score 209
Status Validated
Chromosome 7
Chromosomal Location 132197968-132201366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132199161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 200 (V200A)
Ref Sequence ENSEMBL: ENSMUSP00000052778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054562] [ENSMUST00000124096]
AlphaFold P42580
Predicted Effect probably damaging
Transcript: ENSMUST00000054562
AA Change: V200A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052778
Gene: ENSMUSG00000048528
AA Change: V200A

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
low complexity region 88 96 N/A INTRINSIC
low complexity region 127 152 N/A INTRINSIC
HOX 156 218 7.24e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164986
Meta Mutation Damage Score 0.6555 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 T A 5: 143,843,517 (GRCm39) K24N possibly damaging Het
Atf6 A T 1: 170,622,336 (GRCm39) Y428* probably null Het
BC034090 T C 1: 155,102,024 (GRCm39) E80G probably damaging Het
Calcr T C 6: 3,700,193 (GRCm39) T263A possibly damaging Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cpsf3 A C 12: 21,350,067 (GRCm39) E262A possibly damaging Het
Ddx5 T C 11: 106,675,346 (GRCm39) I330V probably benign Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Enam A T 5: 88,650,674 (GRCm39) S653C probably damaging Het
Fndc3b A T 3: 27,514,135 (GRCm39) V682D possibly damaging Het
Guf1 A T 5: 69,724,495 (GRCm39) M396L probably benign Het
H2-Q10 A G 17: 35,781,915 (GRCm39) Y179C possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpgd G A 8: 56,751,453 (GRCm39) V94M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama5 T G 2: 179,836,356 (GRCm39) H1165P possibly damaging Het
Lrrfip1 A G 1: 91,039,911 (GRCm39) T205A possibly damaging Het
Mcm7 G A 5: 138,162,998 (GRCm39) R385W probably damaging Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Mpp7 A T 18: 7,351,085 (GRCm39) H537Q probably damaging Het
Mx1 T C 16: 97,253,195 (GRCm39) D380G possibly damaging Het
Nckap5 T A 1: 125,952,811 (GRCm39) Q1183L possibly damaging Het
Nr3c2 T A 8: 77,812,313 (GRCm39) probably null Het
Nsmce1 C T 7: 125,085,549 (GRCm39) V47I probably benign Het
Nudt3 A G 17: 27,799,782 (GRCm39) S134P possibly damaging Het
Or1e26 C A 11: 73,479,839 (GRCm39) G242C probably damaging Het
Or1e26 A T 11: 73,480,194 (GRCm39) Y123* probably null Het
Or5g9 G A 2: 85,552,040 (GRCm39) C97Y probably damaging Het
Pcnx1 A G 12: 82,042,892 (GRCm39) T2325A probably benign Het
Phactr4 A T 4: 132,095,178 (GRCm39) probably null Het
Rnf7l T A 10: 63,257,472 (GRCm39) H16L probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Spta1 A T 1: 174,035,880 (GRCm39) Y1062F probably damaging Het
Ssc5d A G 7: 4,945,790 (GRCm39) T941A probably benign Het
Taf11 A G 17: 28,122,167 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,716,533 (GRCm39) H286R probably damaging Het
Tmem62 T A 2: 120,807,948 (GRCm39) W57R probably damaging Het
Vmn2r111 T C 17: 22,790,301 (GRCm39) Y235C possibly damaging Het
Vmn2r22 T A 6: 123,627,591 (GRCm39) K2* probably null Het
Vmn2r74 A G 7: 85,605,322 (GRCm39) V442A probably benign Het
Other mutations in Nkx1-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Nkx1-2 APN 7 132,201,203 (GRCm39) missense probably damaging 1.00
R0894:Nkx1-2 UTSW 7 132,201,042 (GRCm39) missense probably null 0.98
R4248:Nkx1-2 UTSW 7 132,201,209 (GRCm39) frame shift probably null
R6376:Nkx1-2 UTSW 7 132,201,240 (GRCm39) missense probably damaging 0.98
R7589:Nkx1-2 UTSW 7 132,201,204 (GRCm39) missense probably damaging 0.99
R9656:Nkx1-2 UTSW 7 132,201,228 (GRCm39) nonsense probably null
R9767:Nkx1-2 UTSW 7 132,199,402 (GRCm39) missense probably benign 0.03
Z1177:Nkx1-2 UTSW 7 132,201,150 (GRCm39) missense probably benign 0.07
Z1177:Nkx1-2 UTSW 7 132,199,351 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGCAGCAGTACCGGATTC -3'
(R):5'- ATGGGCTTCTGGTCACCATC -3'

Sequencing Primer
(F):5'- CAGCAGTACCGGATTCATAGGTG -3'
(R):5'- TCCATGAGGGCTCACCAGAG -3'
Posted On 2015-03-25