Incidental Mutation 'IGL01103:Prrx1'
ID50271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prrx1
Ensembl Gene ENSMUSG00000026586
Gene Namepaired related homeobox 1
SynonymsmHox, mHox, Pmx1, Prx1, A230024N07Rik, K-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01103
Quality Score
Status
Chromosome1
Chromosomal Location163245119-163313710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 163261962 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 99 (T99A)
Ref Sequence ENSEMBL: ENSMUSP00000134338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027878] [ENSMUST00000075805] [ENSMUST00000174397]
Predicted Effect probably damaging
Transcript: ENSMUST00000027878
AA Change: T99A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: T99A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Pfam:OAR 219 236 7.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075805
AA Change: T99A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: T99A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174397
AA Change: T99A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: T99A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183691
Coding Region Coverage
Validation Efficiency
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 localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh3 A G 8: 106,555,305 Y775C probably damaging Het
Clip2 A G 5: 134,492,350 S980P possibly damaging Het
Ddx51 C T 5: 110,655,863 A375V probably benign Het
Eif4e A G 3: 138,547,651 probably benign Het
Epb41l5 T C 1: 119,567,847 D588G probably benign Het
Fam26f A T 10: 34,126,365 C241S probably benign Het
Fer1l4 C T 2: 156,044,441 probably null Het
Fli1 T C 9: 32,423,940 N399D probably benign Het
Gm20422 T C 8: 69,743,126 T168A possibly damaging Het
Gm5771 T A 6: 41,397,157 V231D probably damaging Het
Kcnk12 C T 17: 87,746,767 G156R probably damaging Het
Kntc1 T A 5: 123,764,220 S309T probably damaging Het
Lcp1 T A 14: 75,227,093 probably null Het
Neo1 A G 9: 58,880,799 C1324R possibly damaging Het
Nin G A 12: 70,056,758 T236I probably damaging Het
Npy6r A G 18: 44,275,518 E2G probably benign Het
Numa1 T C 7: 102,001,571 V136A probably benign Het
Pcdhb8 A G 18: 37,357,200 K644E probably damaging Het
Polr3h T A 15: 81,922,496 N41Y probably damaging Het
Rbm18 G A 2: 36,134,172 R26* probably null Het
Repin1 G T 6: 48,597,953 probably benign Het
Rnase1 T C 14: 51,145,622 N92D probably benign Het
Sidt1 A T 16: 44,243,543 C782* probably null Het
Slc27a6 T A 18: 58,556,764 S101T probably benign Het
Stard9 A G 2: 120,701,847 N2862D possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tril A G 6: 53,819,038 Y400H probably damaging Het
Trim34b T C 7: 104,329,899 C118R probably damaging Het
Vwa7 T C 17: 35,024,942 V784A probably damaging Het
Other mutations in Prrx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Prrx1 APN 1 163261967 missense probably damaging 1.00
R0309:Prrx1 UTSW 1 163312559 missense possibly damaging 0.62
R0620:Prrx1 UTSW 1 163257816 missense probably damaging 1.00
R0624:Prrx1 UTSW 1 163248405 unclassified probably benign
R1728:Prrx1 UTSW 1 163261967 missense probably damaging 1.00
R1784:Prrx1 UTSW 1 163261967 missense probably damaging 1.00
R2497:Prrx1 UTSW 1 163248265 missense possibly damaging 0.94
R3148:Prrx1 UTSW 1 163257848 missense probably benign 0.38
R3729:Prrx1 UTSW 1 163261877 missense probably damaging 1.00
R4667:Prrx1 UTSW 1 163254047 missense probably benign 0.18
R4730:Prrx1 UTSW 1 163312613 missense probably benign
R4768:Prrx1 UTSW 1 163257765 missense probably damaging 1.00
R5222:Prrx1 UTSW 1 163261973 missense probably damaging 1.00
R5448:Prrx1 UTSW 1 163248298 missense probably damaging 0.99
R7034:Prrx1 UTSW 1 163248338 missense probably benign 0.37
R7036:Prrx1 UTSW 1 163248338 missense probably benign 0.37
R7529:Prrx1 UTSW 1 163253964 intron probably null
R8020:Prrx1 UTSW 1 163248262 missense probably damaging 0.97
Z1088:Prrx1 UTSW 1 163261877 missense probably damaging 1.00
Z1177:Prrx1 UTSW 1 163312465 frame shift probably null
Posted On2013-06-21