Incidental Mutation 'R4058:Nkx3-2'
ID 314332
Institutional Source Beutler Lab
Gene Symbol Nkx3-2
Ensembl Gene ENSMUSG00000049691
Gene Name NK3 homeobox 2
Synonyms Nkx-3.2, Bapx1
MMRRC Submission 040969-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4058 (G1)
Quality Score 101
Status Validated
Chromosome 5
Chromosomal Location 41918826-41921563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41919406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 194 (E194V)
Ref Sequence ENSEMBL: ENSMUSP00000051990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060820]
AlphaFold P97503
Predicted Effect possibly damaging
Transcript: ENSMUST00000060820
AA Change: E194V

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051990
Gene: ENSMUSG00000049691
AA Change: E194V

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 0.1751 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Adam15 A G 3: 89,254,362 (GRCm39) V145A possibly damaging Het
Anxa4 C T 6: 86,734,800 (GRCm39) probably null Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cldn34c4 C A X: 126,629,060 (GRCm39) V137F probably benign Het
Cngb1 T C 8: 95,994,282 (GRCm39) E163G probably benign Het
Dync1i1 A G 6: 5,769,764 (GRCm39) D113G probably damaging Het
Etl4 T A 2: 20,810,830 (GRCm39) V971D possibly damaging Het
Gys1 A G 7: 45,097,810 (GRCm39) probably benign Het
H13 C G 2: 152,533,794 (GRCm39) P227R probably damaging Het
Ift22 C A 5: 136,940,717 (GRCm39) P84Q unknown Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Kdm8 T A 7: 125,055,666 (GRCm39) Y65N probably damaging Het
Lbp T A 2: 158,166,550 (GRCm39) V368E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Megf6 T C 4: 154,326,989 (GRCm39) probably benign Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mitd1 C T 1: 37,920,107 (GRCm39) S167N probably benign Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Nup210 A T 6: 91,037,602 (GRCm39) V757D probably benign Het
Opcml A G 9: 28,812,884 (GRCm39) Y192C probably damaging Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or5m8 T A 2: 85,822,576 (GRCm39) S138R possibly damaging Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Pkd2l2 T C 18: 34,561,245 (GRCm39) F418L probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Prep G A 10: 45,034,467 (GRCm39) V660M probably benign Het
Qrfprl T A 6: 65,358,525 (GRCm39) I83N probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhbdd1 A G 1: 82,348,102 (GRCm39) N235D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sgo2b A T 8: 64,379,981 (GRCm39) D950E probably damaging Het
Slc1a5 T C 7: 16,529,778 (GRCm39) V399A probably damaging Het
Spag16 A T 1: 69,892,487 (GRCm39) Q89H probably damaging Het
Spta1 T C 1: 174,068,703 (GRCm39) W2168R probably damaging Het
Taok1 T A 11: 77,440,264 (GRCm39) K581M probably benign Het
Tns3 T C 11: 8,442,275 (GRCm39) D696G probably damaging Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Usp45 T C 4: 21,810,746 (GRCm39) I314T probably damaging Het
Vmn2r15 T A 5: 109,441,312 (GRCm39) H182L probably damaging Het
Vmn2r76 A C 7: 85,879,508 (GRCm39) M264R probably benign 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
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
R8498:Nkx3-2 UTSW 5 41,920,989 (GRCm39) missense probably benign 0.30
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'- TCACTTGCGTCTCTGTGAGC -3'
(R):5'- GTAGGCTCAAAGTGGGTTCC -3'

Sequencing Primer
(F):5'- GCGTCTCTGTGAGCTTCAGC -3'
(R):5'- AAAGTGGGTTCCCTTGCCAATC -3'
Posted On 2015-04-30