Incidental Mutation 'R8498:Nkx3-2'
ID 658366
Institutional Source Beutler Lab
Gene Symbol Nkx3-2
Ensembl Gene ENSMUSG00000049691
Gene Name NK3 homeobox 2
Synonyms Nkx-3.2, Bapx1
MMRRC Submission 067940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8498 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 41918826-41921563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41920989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 100 (E100G)
Ref Sequence ENSEMBL: ENSMUSP00000051990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060820]
AlphaFold P97503
Predicted Effect probably benign
Transcript: ENSMUST00000060820
AA Change: E100G

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000051990
Gene: ENSMUSG00000049691
AA Change: E100G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
HOX 206 268 1.47e-24 SMART
low complexity region 299 319 N/A INTRINSIC
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are perinatal lethal, lack a spleen, and display skeletal dysplasia of the vertebral column and cranium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,096,872 (GRCm39) probably null Het
Amigo1 A G 3: 108,095,751 (GRCm39) M417V probably benign Het
Celsr1 G T 15: 85,823,306 (GRCm39) Q1701K probably benign Het
Cfhr2 G T 1: 139,741,219 (GRCm39) T252K possibly damaging Het
Cntnap4 T A 8: 113,602,211 (GRCm39) V1205E possibly damaging Het
Ctsb T C 14: 63,370,881 (GRCm39) I31T probably benign Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Dna2 A G 10: 62,809,094 (GRCm39) D1062G probably benign Het
Dnah7a A C 1: 53,657,139 (GRCm39) M879R probably benign Het
Gcc1 C A 6: 28,418,029 (GRCm39) S768I probably benign Het
Gm29106 T C 1: 118,128,218 (GRCm39) Y637H probably damaging Het
Gm4787 T C 12: 81,425,840 (GRCm39) D106G probably damaging Het
Gm527 T A 12: 64,967,782 (GRCm39) V68D probably damaging Het
Grm1 A T 10: 10,955,605 (GRCm39) Y226* probably null Het
Hkdc1 T C 10: 62,221,662 (GRCm39) R799G probably benign Het
Ier2 T C 8: 85,389,353 (GRCm39) I10V probably damaging Het
Ifi209 A G 1: 173,470,069 (GRCm39) N219S probably benign Het
Iqcn T C 8: 71,162,625 (GRCm39) I606T probably benign Het
Krt88 A G 15: 101,351,406 (GRCm39) S138G probably benign Het
Lrrc3 T C 10: 77,736,824 (GRCm39) D204G probably damaging Het
Mllt6 T C 11: 97,567,688 (GRCm39) I705T possibly damaging Het
Mpl G A 4: 118,306,207 (GRCm39) P278S probably benign Het
Or13p8 A T 4: 118,583,822 (GRCm39) Y126F possibly damaging Het
Or56b1b A T 7: 108,164,833 (GRCm39) C56* probably null Het
Or8b12b G A 9: 37,684,560 (GRCm39) V202M probably damaging Het
Pcdh15 G A 10: 74,317,974 (GRCm39) V992I probably damaging Het
Pcdhgc5 A G 18: 37,953,487 (GRCm39) N254D probably damaging Het
Pdgfd A G 9: 6,288,655 (GRCm39) E103G probably damaging Het
Ppp2r1b C T 9: 50,778,194 (GRCm39) R304* probably null Het
Pramel30 A G 4: 144,058,233 (GRCm39) D280G probably benign Het
Prdm2 G A 4: 142,907,467 (GRCm39) A35V probably damaging Het
Psd T C 19: 46,312,788 (GRCm39) N194S probably damaging Het
Rasgef1c A T 11: 49,862,248 (GRCm39) E379V probably damaging Het
Rnf43 A T 11: 87,618,267 (GRCm39) I186F probably damaging Het
Ros1 C T 10: 52,055,047 (GRCm39) C85Y probably damaging Het
Setd2 T A 9: 110,378,989 (GRCm39) L935I probably damaging Het
Slc2a5 A G 4: 150,210,590 (GRCm39) Q46R probably benign Het
Ss18l1 A T 2: 179,699,968 (GRCm39) Q276L probably damaging Het
Tas2r129 A T 6: 132,928,815 (GRCm39) M251L probably benign Het
Thoc1 A G 18: 9,989,693 (GRCm39) E458G probably benign Het
Wdr35 T A 12: 9,058,626 (GRCm39) N594K probably damaging Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S probably damaging Het
Other mutations in Nkx3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0690:Nkx3-2 UTSW 5 41,919,470 (GRCm39) missense probably damaging 0.98
R3926:Nkx3-2 UTSW 5 41,919,223 (GRCm39) missense probably damaging 1.00
R4058:Nkx3-2 UTSW 5 41,919,406 (GRCm39) missense possibly damaging 0.60
R4489:Nkx3-2 UTSW 5 41,919,304 (GRCm39) missense probably damaging 1.00
R4515:Nkx3-2 UTSW 5 41,921,281 (GRCm39) missense probably damaging 1.00
R4732:Nkx3-2 UTSW 5 41,919,487 (GRCm39) missense probably benign 0.18
R4733:Nkx3-2 UTSW 5 41,919,487 (GRCm39) missense probably benign 0.18
R5067:Nkx3-2 UTSW 5 41,919,220 (GRCm39) missense probably damaging 1.00
R5265:Nkx3-2 UTSW 5 41,919,191 (GRCm39) missense probably benign 0.03
R7129:Nkx3-2 UTSW 5 41,919,017 (GRCm39) missense probably damaging 1.00
R9208:Nkx3-2 UTSW 5 41,919,114 (GRCm39) missense probably damaging 0.99
R9435:Nkx3-2 UTSW 5 41,919,493 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGAGTGCTTGACCTCTTAACC -3'
(R):5'- TCCAGGCGATCCTCAACAAG -3'

Sequencing Primer
(F):5'- AGCCCCCTTCCTGGAGAAC -3'
(R):5'- CACAGAGGTGGCGGTGAC -3'
Posted On 2021-01-18