Incidental Mutation 'R4730:Prrx1'
ID 358730
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 041990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 163072688-163141279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163140182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 8 (V8A)
Ref Sequence ENSEMBL: ENSMUSP00000134338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027878] [ENSMUST00000075805] [ENSMUST00000174397]
AlphaFold P63013
Predicted Effect probably benign
Transcript: ENSMUST00000027878
AA Change: V8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: V8A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Pfam:OAR 219 236 7.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075805
AA Change: V8A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: V8A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174098
Predicted Effect probably benign
Transcript: ENSMUST00000174397
AA Change: V8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: V8A

DomainStartEndE-ValueType
HOX 94 156 4.93e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192190
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Col4a2 A G 8: 11,487,590 (GRCm39) N964S probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Hs3st1 A T 5: 39,772,148 (GRCm39) L165* probably null Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Rnf4 G T 5: 34,508,147 (GRCm39) V134F possibly damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Strn4 A G 7: 16,562,719 (GRCm39) Q286R possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Trim66 A G 7: 109,082,276 (GRCm39) S226P probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S 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
R1784: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
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
(F):5'- TCACTCACTGTCCTGCTGAG -3'
(R):5'- GTTCTACACTTCAGAAGGGGTC -3'

Sequencing Primer
(F):5'- ACTGGTCAGTCCCGGTGAC -3'
(R):5'- ACTTCAGAAGGGGTCCCACC -3'
Posted On 2015-11-11