Incidental Mutation 'R4489:Nkx3-2'
Institutional Source Beutler Lab
Gene Symbol Nkx3-2
Ensembl Gene ENSMUSG00000049691
Gene NameNK3 homeobox 2
SynonymsBapx1, Nkx-3.2
MMRRC Submission 041745-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4489 (G1)
Quality Score225
Status Not validated
Chromosomal Location41761483-41764501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 41761961 bp
Amino Acid Change Glutamine to Proline at position 228 (Q228P)
Ref Sequence ENSEMBL: ENSMUSP00000051990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060820]
Predicted Effect probably damaging
Transcript: ENSMUST00000060820
AA Change: Q228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051990
Gene: ENSMUSG00000049691
AA Change: Q228P

low complexity region 56 67 N/A INTRINSIC
HOX 206 268 1.47e-24 SMART
low complexity region 299 319 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 94% (50/53)
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
4930430A15Rik A G 2: 111,220,702 Y250H probably benign Het
4932438A13Rik A T 3: 37,003,933 Q3224L probably null Het
Abcd2 A G 15: 91,178,283 V484A probably damaging Het
Ank3 C T 10: 69,898,256 A754V probably damaging Het
Ano1 T C 7: 144,611,742 N582S probably benign Het
Arnt2 T A 7: 84,275,345 T425S probably benign Het
Cand2 A G 6: 115,789,466 D344G probably damaging Het
Clta T G 4: 44,032,417 F198V probably damaging Het
Cnga2 T A X: 72,006,127 F133I possibly damaging Het
Csmd2 G A 4: 128,381,945 V826M possibly damaging Het
Dnah11 C T 12: 117,916,896 V3830I probably benign Het
Fhl4 T C 10: 85,098,455 D154G possibly damaging Het
Gbp4 T A 5: 105,121,907 T352S probably damaging Het
Gigyf2 A G 1: 87,440,826 D1076G probably damaging Het
Gm21370 T A 13: 120,026,842 Y57F probably benign Het
Gm6489 A G 1: 31,287,239 noncoding transcript Het
Grm6 T C 11: 50,859,989 S660P probably damaging Het
Hectd4 T G 5: 121,286,257 I660R possibly damaging Het
Homer3 G A 8: 70,290,143 probably null Het
Htr1b A T 9: 81,631,539 D338E probably benign Het
Kif1bp A G 10: 62,563,027 probably benign Het
Lrp1b T C 2: 40,661,489 probably benign Het
Lzts1 T A 8: 69,135,695 K536N possibly damaging Het
Mrpl22 T A 11: 58,173,102 N49K probably benign Het
Mzt1 T C 14: 99,036,490 *42W probably null Het
Nufip2 T G 11: 77,686,229 M1R probably null Het
Obscn G A 11: 59,031,591 T5921M possibly damaging Het
Olfr1221 T C 2: 89,111,572 probably null Het
Olfr676 T C 7: 105,035,303 F35S probably benign Het
Pcdha11 C A 18: 37,006,916 Q533K possibly damaging Het
Pgm5 T C 19: 24,816,445 E285G probably benign Het
Plxna2 C T 1: 194,749,317 S538F probably damaging Het
Rgs21 T C 1: 144,519,875 T92A possibly damaging Het
Rgsl1 T A 1: 153,827,536 Y123F probably benign Het
Rnf13 A C 3: 57,820,589 K230T probably damaging Het
Sgf29 T C 7: 126,663,938 S29P possibly damaging Het
Smchd1 T C 17: 71,407,235 T878A probably benign Het
Specc1 T G 11: 62,151,827 probably null Het
Tg A T 15: 66,707,942 Q1532L probably damaging Het
Timm44 A C 8: 4,266,654 S297A possibly damaging Het
Txndc9 G T 1: 37,995,790 S11* probably null Het
Uggt1 C T 1: 36,146,668 W1478* probably null Het
Washc3 T C 10: 88,216,031 V87A probably benign Het
Xlr5b T C X: 73,157,898 probably null Het
Other mutations in Nkx3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0690:Nkx3-2 UTSW 5 41762127 missense probably damaging 0.98
R3926:Nkx3-2 UTSW 5 41761880 missense probably damaging 1.00
R4058:Nkx3-2 UTSW 5 41762063 missense possibly damaging 0.60
R4515:Nkx3-2 UTSW 5 41763938 missense probably damaging 1.00
R4732:Nkx3-2 UTSW 5 41762144 missense probably benign 0.18
R4733:Nkx3-2 UTSW 5 41762144 missense probably benign 0.18
R5067:Nkx3-2 UTSW 5 41761877 missense probably damaging 1.00
R5265:Nkx3-2 UTSW 5 41761848 missense probably benign 0.03
R7129:Nkx3-2 UTSW 5 41761674 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-07-21