Incidental Mutation 'R2420:Pax3'
ID 266149
Institutional Source Beutler Lab
Gene Symbol Pax3
Ensembl Gene ENSMUSG00000004872
Gene Name paired box 3
Synonyms Splchl2, Pax-3
MMRRC Submission 040382-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R2420 (G1)
Quality Score 131
Status Not validated
Chromosome 1
Chromosomal Location 78077904-78173771 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78173501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000004994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004994] [ENSMUST00000087086]
AlphaFold P24610
Predicted Effect probably null
Transcript: ENSMUST00000004994
SMART Domains Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872

DomainStartEndE-ValueType
PAX 34 159 1.99e-91 SMART
low complexity region 164 185 N/A INTRINSIC
HOX 219 281 6.6e-27 SMART
Pfam:Pax7 347 391 5.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087086
SMART Domains Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872

DomainStartEndE-ValueType
PAX 34 159 1.99e-91 SMART
low complexity region 164 185 N/A INTRINSIC
HOX 219 281 6.6e-27 SMART
Pfam:Pax7 346 391 5.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172555
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
PHENOTYPE: Effects on homozygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,270,921 (GRCm39) K48R probably damaging Het
Acsm2 T C 7: 119,162,857 (GRCm39) F44L probably damaging Het
Actr5 T C 2: 158,478,001 (GRCm39) F457S probably damaging Het
Adamts3 A G 5: 89,831,034 (GRCm39) S1007P probably damaging Het
Ahnak C T 19: 8,986,620 (GRCm39) P2635S possibly damaging Het
Ankrd17 A T 5: 90,437,179 (GRCm39) D555E possibly damaging Het
Arhgap29 A G 3: 121,767,629 (GRCm39) I24V probably benign Het
Atxn2 A T 5: 121,940,142 (GRCm39) probably null Het
Birc6 T A 17: 74,967,609 (GRCm39) L301Q probably damaging Het
Ccdc137 G A 11: 120,353,090 (GRCm39) probably null Het
Ccdc18 A C 5: 108,376,454 (GRCm39) E1298D probably damaging Het
Chst9 A T 18: 15,585,341 (GRCm39) N407K probably damaging Het
Cwf19l2 A G 9: 3,411,341 (GRCm39) K73E possibly damaging Het
Dhcr24 G T 4: 106,418,291 (GRCm39) probably benign Het
Dnajc21 A G 15: 10,462,021 (GRCm39) S127P probably benign Het
Egln1 T C 8: 125,674,985 (GRCm39) N270S probably benign Het
Eme1 A G 11: 94,536,640 (GRCm39) probably null Het
Emilin2 A G 17: 71,581,274 (GRCm39) I484T possibly damaging Het
Entpd2 T C 2: 25,289,295 (GRCm39) I259T probably benign Het
Fbp1 T C 13: 63,019,120 (GRCm39) K24E probably benign Het
Fga A T 3: 82,940,461 (GRCm39) N705I possibly damaging Het
Gas1 G T 13: 60,324,744 (GRCm39) probably benign Het
Glrb A G 3: 80,767,542 (GRCm39) I226T probably damaging Het
Gm17421 T A 12: 113,333,107 (GRCm39) noncoding transcript Het
Gm44501 A T 17: 40,889,600 (GRCm39) H38L possibly damaging Het
H2-M10.5 A G 17: 37,085,891 (GRCm39) I308V probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jcad T C 18: 4,675,952 (GRCm39) M1238T probably damaging Het
Kank1 T C 19: 25,387,821 (GRCm39) L498S probably damaging Het
Krt10 G A 11: 99,277,933 (GRCm39) T338I possibly damaging Het
Krt13 A T 11: 100,010,877 (GRCm39) L159Q probably benign Het
Lama1 A T 17: 68,057,548 (GRCm39) M541L probably benign Het
Lilra6 A G 7: 3,917,857 (GRCm39) Y96H probably damaging Het
Ltc4s A G 11: 50,128,166 (GRCm39) probably null Het
Ly6g6e G A 17: 35,297,122 (GRCm39) R121Q probably benign Het
Mfn1 A G 3: 32,623,664 (GRCm39) I263V probably benign Het
Mmaa T A 8: 80,008,061 (GRCm39) R59W probably damaging Het
Mug2 C A 6: 122,060,419 (GRCm39) T1385K probably damaging Het
Mypn G T 10: 63,028,648 (GRCm39) Y138* probably null Het
Nav3 A C 10: 109,699,674 (GRCm39) S273R probably damaging Het
Ndufaf1 T C 2: 119,486,218 (GRCm39) E298G probably damaging Het
Or10d5 A G 9: 39,861,824 (GRCm39) L81P possibly damaging Het
Or4c114 T C 2: 88,905,336 (GRCm39) Y33C possibly damaging Het
Or4k42 T C 2: 111,319,602 (GRCm39) probably null Het
Or5k15 T C 16: 58,710,328 (GRCm39) E85G probably benign Het
Or5p51 T C 7: 107,444,025 (GRCm39) K305R probably benign Het
Pak1 A T 7: 97,503,686 (GRCm39) D7V probably benign Het
Plekhg1 G A 10: 3,908,048 (GRCm39) M988I probably benign Het
Prickle1 A G 15: 93,401,518 (GRCm39) F322S probably damaging Het
Prl8a2 A G 13: 27,532,896 (GRCm39) E36G possibly damaging Het
Prss45 A G 9: 110,668,160 (GRCm39) I118V possibly damaging Het
Psd4 T G 2: 24,291,253 (GRCm39) V597G probably damaging Het
Psmb10 A G 8: 106,663,934 (GRCm39) S108P probably benign Het
Pttg1ip2 T C 5: 5,505,912 (GRCm39) Y123C probably benign Het
Shank3 A T 15: 89,405,413 (GRCm39) K455* probably null Het
Spag17 T A 3: 99,934,935 (GRCm39) W714R probably benign Het
Synrg A G 11: 83,900,050 (GRCm39) E674G probably damaging Het
Tep1 T A 14: 51,071,480 (GRCm39) H2055L probably benign Het
Terb1 T C 8: 105,225,227 (GRCm39) T14A probably damaging Het
Tmub2 T A 11: 102,178,581 (GRCm39) D161E probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Tyr T A 7: 87,078,397 (GRCm39) I488F probably benign Het
Uba6 A G 5: 86,280,475 (GRCm39) probably null Het
Unc13c T C 9: 73,838,829 (GRCm39) Y674C probably damaging Het
Vmn2r105 T A 17: 20,448,097 (GRCm39) R242S probably benign Het
Vmn2r12 A G 5: 109,234,398 (GRCm39) Y605H probably benign Het
Wnk1 A G 6: 119,913,328 (GRCm39) probably null Het
Zfhx4 C A 3: 5,455,465 (GRCm39) A1153E probably benign Het
Zfp13 A C 17: 23,795,186 (GRCm39) Y462D probably damaging Het
Zfp644 A G 5: 106,785,110 (GRCm39) M479T possibly damaging Het
Other mutations in Pax3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pax3 APN 1 78,173,300 (GRCm39) critical splice donor site probably null
IGL02249:Pax3 APN 1 78,171,962 (GRCm39) missense probably damaging 0.98
IGL02271:Pax3 APN 1 78,171,969 (GRCm39) missense probably damaging 1.00
IGL02376:Pax3 APN 1 78,108,929 (GRCm39) missense probably damaging 1.00
IGL02530:Pax3 APN 1 78,098,424 (GRCm39) missense possibly damaging 0.87
IGL02950:Pax3 APN 1 78,079,997 (GRCm39) missense probably benign 0.06
Nidoqueen UTSW 1 78,108,869 (GRCm39) missense probably damaging 1.00
Widget UTSW 1 78,099,227 (GRCm39) critical splice donor site probably null
R0049:Pax3 UTSW 1 78,080,141 (GRCm39) missense probably damaging 1.00
R0049:Pax3 UTSW 1 78,080,141 (GRCm39) missense probably damaging 1.00
R0523:Pax3 UTSW 1 78,172,078 (GRCm39) missense possibly damaging 0.83
R1575:Pax3 UTSW 1 78,080,121 (GRCm39) missense probably benign 0.00
R1831:Pax3 UTSW 1 78,108,977 (GRCm39) missense probably damaging 1.00
R1934:Pax3 UTSW 1 78,080,117 (GRCm39) missense possibly damaging 0.90
R2473:Pax3 UTSW 1 78,099,227 (GRCm39) critical splice donor site probably null
R4430:Pax3 UTSW 1 78,171,961 (GRCm39) missense probably damaging 1.00
R4693:Pax3 UTSW 1 78,173,383 (GRCm39) missense probably benign 0.00
R4818:Pax3 UTSW 1 78,108,869 (GRCm39) missense probably damaging 1.00
R4860:Pax3 UTSW 1 78,169,093 (GRCm39) missense possibly damaging 0.78
R4860:Pax3 UTSW 1 78,169,093 (GRCm39) missense possibly damaging 0.78
R5302:Pax3 UTSW 1 78,098,249 (GRCm39) missense possibly damaging 0.88
R5475:Pax3 UTSW 1 78,080,055 (GRCm39) missense probably benign 0.06
R5855:Pax3 UTSW 1 78,098,288 (GRCm39) missense probably damaging 0.99
R6102:Pax3 UTSW 1 78,108,984 (GRCm39) missense probably damaging 1.00
R6190:Pax3 UTSW 1 78,169,186 (GRCm39) missense possibly damaging 0.63
R6856:Pax3 UTSW 1 78,109,056 (GRCm39) missense probably damaging 1.00
R7065:Pax3 UTSW 1 78,170,648 (GRCm39) splice site probably null
R7547:Pax3 UTSW 1 78,099,231 (GRCm39) nonsense probably null
R8059:Pax3 UTSW 1 78,080,003 (GRCm39) missense probably benign 0.04
R8224:Pax3 UTSW 1 78,098,327 (GRCm39) missense probably damaging 1.00
R8312:Pax3 UTSW 1 78,172,006 (GRCm39) missense probably damaging 1.00
R8324:Pax3 UTSW 1 78,170,426 (GRCm39) missense probably damaging 1.00
R9319:Pax3 UTSW 1 78,080,079 (GRCm39) missense probably benign
R9759:Pax3 UTSW 1 78,170,415 (GRCm39) missense probably damaging 1.00
Z1176:Pax3 UTSW 1 78,099,227 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2015-02-05