Incidental Mutation 'R1784:Prrx1'
ID 195994
Institutional Source Beutler Lab
Gene Symbol Prrx1
Ensembl Gene ENSMUSG00000026586
Gene Name paired related homeobox 1
Synonyms mHox, A230024N07Rik, Prx1, Pmx1, MHox1, mHox, K-2
MMRRC Submission 039815-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1784 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 163072688-163141279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 163089536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 97 (N97I)
Ref Sequence ENSEMBL: ENSMUSP00000134338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027878] [ENSMUST00000075805] [ENSMUST00000174397]
AlphaFold P63013
Predicted Effect probably damaging
Transcript: ENSMUST00000027878
AA Change: N97I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: N97I

HOX 94 156 4.93e-26 SMART
Pfam:OAR 219 236 7.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075805
AA Change: N97I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: N97I

HOX 94 156 4.93e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174397
AA Change: N97I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: N97I

HOX 94 156 4.93e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183691
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.2%
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: 193 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,589,385 (GRCm39) I90V probably damaging Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adamts17 C T 7: 66,799,704 (GRCm39) R1060* probably null Het
Adamts5 T A 16: 85,674,803 (GRCm39) K454* probably null Het
Adgrg6 T C 10: 14,315,526 (GRCm39) T593A probably damaging Het
Aldh4a1 A G 4: 139,371,472 (GRCm39) Y462C probably damaging Het
Ankrd12 G T 17: 66,291,071 (GRCm39) P1454Q probably benign Het
Ap1m1 T A 8: 73,006,693 (GRCm39) S230T probably benign Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
Atp6ap1l T A 13: 91,053,400 (GRCm39) K4N probably damaging Het
Boc T C 16: 44,316,782 (GRCm39) T454A probably benign Het
Bola1 C T 3: 96,104,426 (GRCm39) G56D probably benign Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cbs G T 17: 31,839,923 (GRCm39) A337E probably benign Het
Ccdc186 A C 19: 56,797,652 (GRCm39) H306Q probably benign Het
Cd180 T C 13: 102,842,367 (GRCm39) L471P probably damaging Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cdk12 T C 11: 98,140,796 (GRCm39) probably benign Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Chit1 A G 1: 134,077,132 (GRCm39) R312G possibly damaging Het
Chrna6 A T 8: 27,896,812 (GRCm39) M355K possibly damaging Het
Clcn1 T A 6: 42,276,448 (GRCm39) F360Y possibly damaging Het
Copa T A 1: 171,939,554 (GRCm39) F597Y probably benign Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crybg1 T A 10: 43,880,015 (GRCm39) Q391L probably damaging Het
Cwh43 T C 5: 73,565,561 (GRCm39) L42P probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dnah17 C T 11: 117,960,345 (GRCm39) C2572Y possibly damaging Het
Dnah9 G A 11: 65,975,846 (GRCm39) T1401I possibly damaging Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
Elf2 A T 3: 51,164,993 (GRCm39) V277D probably damaging Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Etnk2 G T 1: 133,304,784 (GRCm39) A336S probably benign Het
Etnk2 C T 1: 133,291,628 (GRCm39) P43S probably benign Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fat3 A C 9: 15,907,611 (GRCm39) V2797G possibly damaging Het
Fbxl6 C T 15: 76,422,258 (GRCm39) R137H probably damaging Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Galnt17 A T 5: 131,179,801 (GRCm39) H115Q probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm10563 C T 4: 155,720,337 (GRCm39) probably benign Het
Gm12887 T A 4: 121,473,715 (GRCm39) D45V probably benign Het
Gse1 G A 8: 121,294,992 (GRCm39) probably benign Het
Guk1 A T 11: 59,076,138 (GRCm39) V100E probably damaging Het
Heatr4 T C 12: 84,014,346 (GRCm39) I630M probably benign Het
Hectd4 A T 5: 121,439,902 (GRCm39) Y1134F possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Itprid1 T C 6: 55,945,526 (GRCm39) F749S probably benign Het
Kcnh5 T C 12: 75,184,465 (GRCm39) D86G probably benign Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif18b A G 11: 102,806,367 (GRCm39) probably null Het
Kif21b A G 1: 136,087,859 (GRCm39) I983V possibly damaging Het
Kpna3 T A 14: 61,605,150 (GRCm39) E499V probably benign Het
Kremen1 GGG GGGTGG 11: 5,151,792 (GRCm39) probably benign Het
Krt23 A T 11: 99,383,790 (GRCm39) V34D probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lima1 G T 15: 99,678,344 (GRCm39) P539Q possibly damaging Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Megf10 T C 18: 57,373,864 (GRCm39) probably null Het
Mrgbp T A 2: 180,227,242 (GRCm39) N192K probably damaging Het
Mrgpra2b A G 7: 47,114,627 (GRCm39) I35T probably benign Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mrpl3 C T 9: 104,934,266 (GRCm39) H130Y probably benign Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Mycbp2 A T 14: 103,392,614 (GRCm39) C3206S probably damaging Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Nbeal2 T A 9: 110,459,925 (GRCm39) K1844* probably null Het
Ndufaf7 A T 17: 79,245,058 (GRCm39) K59M probably damaging Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or8b12i A T 9: 20,082,209 (GRCm39) Y219* probably null Het
Otoa T C 7: 120,724,662 (GRCm39) V447A probably benign Het
Papss1 A G 3: 131,311,728 (GRCm39) N319D probably benign Het
Pcdhb3 G A 18: 37,434,931 (GRCm39) G299D probably damaging Het
Pcsk4 T C 10: 80,159,404 (GRCm39) D432G probably damaging Het
Pde4b T C 4: 102,462,457 (GRCm39) I711T probably benign Het
Pde5a G T 3: 122,541,889 (GRCm39) L126F probably damaging Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pinx1 A G 14: 64,115,559 (GRCm39) probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Rbsn A T 6: 92,167,000 (GRCm39) L548Q possibly damaging Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 A C 1: 133,284,195 (GRCm39) K187Q probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rgs22 T A 15: 36,087,582 (GRCm39) K445N probably damaging Het
Rint1 T A 5: 24,014,841 (GRCm39) D352E probably benign Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Sis A T 3: 72,872,978 (GRCm39) C53* probably null Het
Slain2 A G 5: 73,114,957 (GRCm39) H396R probably damaging Het
Slc22a5 G A 11: 53,757,177 (GRCm39) P491L probably damaging Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Stab2 T G 10: 86,773,903 (GRCm39) R809S probably benign Het
Tbc1d19 T G 5: 53,986,714 (GRCm39) I41S probably damaging Het
Tbc1d31 T A 15: 57,827,316 (GRCm39) H919Q possibly damaging Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Tnfrsf25 T A 4: 152,202,761 (GRCm39) probably null Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Traf7 A G 17: 24,731,353 (GRCm39) F228L probably damaging Het
Trim32 T A 4: 65,532,634 (GRCm39) I397N probably damaging Het
Tubgcp2 T C 7: 139,577,968 (GRCm39) T779A probably benign Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Upf2 A T 2: 6,032,261 (GRCm39) S191C probably damaging Het
Usp42 T C 5: 143,700,381 (GRCm39) D1214G probably damaging Het
Vcam1 T A 3: 115,908,164 (GRCm39) I633L probably benign Het
Vmn2r73 T C 7: 85,507,086 (GRCm39) Y742C probably damaging Het
Vmn2r81 C A 10: 79,106,489 (GRCm39) T489K probably benign Het
Ypel1 C G 16: 16,907,283 (GRCm39) probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zfp169 C T 13: 48,643,295 (GRCm39) A611T possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Other mutations in Prrx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Prrx1 APN 1 163,089,536 (GRCm39) missense probably damaging 1.00
IGL01103:Prrx1 APN 1 163,089,531 (GRCm39) missense probably damaging 1.00
R0309:Prrx1 UTSW 1 163,140,128 (GRCm39) missense possibly damaging 0.62
R0620:Prrx1 UTSW 1 163,085,385 (GRCm39) missense probably damaging 1.00
R0624:Prrx1 UTSW 1 163,075,974 (GRCm39) unclassified probably benign
R1728:Prrx1 UTSW 1 163,089,536 (GRCm39) missense probably damaging 1.00
R2497:Prrx1 UTSW 1 163,075,834 (GRCm39) missense possibly damaging 0.94
R3148:Prrx1 UTSW 1 163,085,417 (GRCm39) missense probably benign 0.38
R3729:Prrx1 UTSW 1 163,089,446 (GRCm39) missense probably damaging 1.00
R4667:Prrx1 UTSW 1 163,081,616 (GRCm39) missense probably benign 0.18
R4730:Prrx1 UTSW 1 163,140,182 (GRCm39) missense probably benign
R4768:Prrx1 UTSW 1 163,085,334 (GRCm39) missense probably damaging 1.00
R5222:Prrx1 UTSW 1 163,089,542 (GRCm39) missense probably damaging 1.00
R5448:Prrx1 UTSW 1 163,075,867 (GRCm39) missense probably damaging 0.99
R7034:Prrx1 UTSW 1 163,075,907 (GRCm39) missense probably benign 0.37
R7036:Prrx1 UTSW 1 163,075,907 (GRCm39) missense probably benign 0.37
R7529:Prrx1 UTSW 1 163,081,533 (GRCm39) splice site probably null
R8020:Prrx1 UTSW 1 163,075,831 (GRCm39) missense probably damaging 0.97
R9413:Prrx1 UTSW 1 163,140,182 (GRCm39) missense probably benign
Z1088:Prrx1 UTSW 1 163,089,446 (GRCm39) missense probably damaging 1.00
Z1177:Prrx1 UTSW 1 163,140,034 (GRCm39) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23