Incidental Mutation 'R7388:Prrx2'
ID 573232
Institutional Source Beutler Lab
Gene Symbol Prrx2
Ensembl Gene ENSMUSG00000039476
Gene Name paired related homeobox 2
Synonyms Prx2, S8
MMRRC Submission 045470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7388 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30735076-30771263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30770902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000040332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041659] [ENSMUST00000113592]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041659
AA Change: E235G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040332
Gene: ENSMUSG00000039476
AA Change: E235G

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
low complexity region 44 80 N/A INTRINSIC
HOX 98 160 2e-26 SMART
Pfam:OAR 219 239 2.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113592
AA Change: E163G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109222
Gene: ENSMUSG00000039476
AA Change: E163G

DomainStartEndE-ValueType
HOX 26 88 2e-26 SMART
Pfam:OAR 147 167 6.3e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal, but Prrx1/Prrx2 double knockout homozygotes exhibit more severe skeletal defects than Prrx1 single knockout mutants, involving structures unaffected in the latter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T C 18: 67,556,023 (GRCm39) E436G probably damaging Het
Agbl5 T A 5: 31,060,583 (GRCm39) L759* probably null Het
Ankrd13b T C 11: 77,363,583 (GRCm39) D460G probably benign Het
Apol10a A G 15: 77,373,225 (GRCm39) D287G possibly damaging Het
Arhgap44 A T 11: 64,915,094 (GRCm39) Y391* probably null Het
Asz1 G T 6: 18,074,900 (GRCm39) S271R probably benign Het
AW554918 A G 18: 25,473,170 (GRCm39) N325D probably benign Het
Brinp2 A T 1: 158,082,579 (GRCm39) L247Q probably damaging Het
Casz1 A G 4: 149,036,850 (GRCm39) D1704G unknown Het
Cdk5rap1 G A 2: 154,202,595 (GRCm39) R212W probably damaging Het
Cdkl2 T A 5: 92,167,318 (GRCm39) T444S probably benign Het
Cers2 T G 3: 95,228,656 (GRCm39) F160V probably benign Het
Cfap276 T C 3: 108,450,815 (GRCm39) F86L possibly damaging Het
Cga T A 4: 34,907,076 (GRCm39) M99K probably benign Het
Cspp1 C T 1: 10,135,572 (GRCm39) R138* probably null Het
Dao T G 5: 114,153,273 (GRCm39) *133E probably null Het
Ddx1 A T 12: 13,275,456 (GRCm39) C544S probably null Het
Dgkq A T 5: 108,806,112 (GRCm39) V98E probably damaging Het
Dnah6 T A 6: 73,169,300 (GRCm39) T434S possibly damaging Het
Dntt A G 19: 41,027,418 (GRCm39) N162D probably benign Het
Dpysl5 T C 5: 30,902,805 (GRCm39) V79A probably benign Het
Efcab3 T C 11: 104,611,871 (GRCm39) L571P probably damaging Het
Ep300 T C 15: 81,532,567 (GRCm39) C1602R unknown Het
Flrt3 C T 2: 140,503,672 (GRCm39) probably null Het
Gk2 A G 5: 97,604,757 (GRCm39) V27A probably damaging Het
Gnpat T G 8: 125,614,553 (GRCm39) M663R probably benign Het
Hc A T 2: 34,874,859 (GRCm39) probably null Het
Il12rb1 A G 8: 71,263,271 (GRCm39) Y67C probably damaging Het
Ints15 G A 5: 143,297,600 (GRCm39) A149V probably benign Het
Kmt2b C T 7: 30,281,385 (GRCm39) D1229N probably damaging Het
Lamc1 T C 1: 153,124,822 (GRCm39) T650A probably damaging Het
Lrp1 G A 10: 127,419,766 (GRCm39) R948* probably null Het
Map3k21 T C 8: 126,654,336 (GRCm39) I385T probably damaging Het
Mmrn1 T A 6: 60,953,236 (GRCm39) S506T probably benign Het
Nlrp1a A G 11: 71,014,023 (GRCm39) F409S probably damaging Het
Nlrp3 T A 11: 59,455,892 (GRCm39) I896N probably benign Het
Noxred1 C A 12: 87,273,799 (GRCm39) V81L probably damaging Het
Nrcam A T 12: 44,645,272 (GRCm39) I1225F probably damaging Het
Or2z2 C T 11: 58,346,481 (GRCm39) C98Y probably damaging Het
Otos T A 1: 92,572,241 (GRCm39) probably null Het
Pcdh20 A G 14: 88,706,103 (GRCm39) I399T probably benign Het
Pkhd1 C T 1: 20,309,528 (GRCm39) V2807I not run Het
Rab13 T C 3: 90,128,327 (GRCm39) I41T probably damaging Het
Rai1 A C 11: 60,080,201 (GRCm39) T1422P possibly damaging Het
Rcn1 C T 2: 105,222,336 (GRCm39) V217M probably damaging Het
Scn2a T A 2: 65,518,998 (GRCm39) V408E probably damaging Het
Sec16a C T 2: 26,318,376 (GRCm39) A121T Het
Slc35d1 A G 4: 103,046,982 (GRCm39) probably null Het
Slc39a6 A T 18: 24,717,106 (GRCm39) V642E probably damaging Het
Slc6a19 G A 13: 73,841,203 (GRCm39) A69V probably benign Het
Spink6 A T 18: 44,215,386 (GRCm39) T79S probably damaging Het
Spire1 T C 18: 67,652,950 (GRCm39) D170G probably damaging Het
Sugp1 T C 8: 70,505,269 (GRCm39) S79P probably damaging Het
Syne3 A G 12: 104,934,167 (GRCm39) Y201H probably damaging Het
Tbc1d10a T C 11: 4,155,858 (GRCm39) probably null Het
Tmem14a C T 1: 21,299,735 (GRCm39) Q122* probably null Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trmt61a A G 12: 111,645,321 (GRCm39) I86V possibly damaging Het
Tubgcp4 G A 2: 121,020,447 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,668 (GRCm39) Y183* probably null Het
Vmn2r11 A T 5: 109,202,742 (GRCm39) W112R probably benign Het
Vpreb1a T C 16: 16,686,516 (GRCm39) K125E probably benign Het
Wdr6 A T 9: 108,451,971 (GRCm39) F637L probably damaging Het
Other mutations in Prrx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5906:Prrx2 UTSW 2 30,769,522 (GRCm39) missense probably damaging 1.00
R7134:Prrx2 UTSW 2 30,768,485 (GRCm39) missense probably damaging 0.98
R8681:Prrx2 UTSW 2 30,735,519 (GRCm39) missense unknown
R8737:Prrx2 UTSW 2 30,768,578 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTATGTCTGGAAGCTTGTCTC -3'
(R):5'- CTCTGGAACTCAGGAAGCTGTG -3'

Sequencing Primer
(F):5'- GAAGCTTGTCTCCTCCCCCAAC -3'
(R):5'- CTCAGGAAGCTGTGATGGAG -3'
Posted On 2019-09-13