Incidental Mutation 'R9413:Prrx1'
ID 711882
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9413 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S 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
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
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'- TTCTACACTTCAGAAGGGGTCCC -3'

Sequencing Primer
(F):5'- ACTGGTCAGTCCCGGTGAC -3'
(R):5'- GGTCCCACCCTCTGTTTCTC -3'
Posted On 2022-05-16