Incidental Mutation 'R5302:Pax3'
ID 404277
Institutional Source Beutler Lab
Gene Symbol Pax3
Ensembl Gene ENSMUSG00000004872
Gene Name paired box 3
Synonyms Splchl2, Pax-3
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78077904-78173771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 78098249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 380 (M380R)
Ref Sequence ENSEMBL: ENSMUSP00000004994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004994] [ENSMUST00000087086]
AlphaFold P24610
Predicted Effect possibly damaging
Transcript: ENSMUST00000004994
AA Change: M380R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: M380R

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 possibly damaging
Transcript: ENSMUST00000087086
AA Change: M380R

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: M380R

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D 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
R2420:Pax3 UTSW 1 78,173,501 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- TGATGCCTCCAGTCGAAAGG -3'
(R):5'- TTCGTTTCAGCCGTGTCAGATC -3'

Sequencing Primer
(F):5'- CCTCCAGTCGAAAGGGAAGAG -3'
(R):5'- GTGTCAGATCCCAGTAGCAC -3'
Posted On 2016-07-22