Incidental Mutation 'R6102:Pax3'
ID 485282
Institutional Source Beutler Lab
Gene Symbol Pax3
Ensembl Gene ENSMUSG00000004872
Gene Name paired box 3
Synonyms Splchl2, Pax-3
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 78077904-78173771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78108984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 225 (T225A)
Ref Sequence ENSEMBL: ENSMUSP00000084320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004994] [ENSMUST00000087086]
AlphaFold P24610
Predicted Effect probably benign
Transcript: ENSMUST00000004994
AA Change: T225A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: T225A

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 damaging
Transcript: ENSMUST00000087086
AA Change: T225A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: T225A

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
Meta Mutation Damage Score 0.0928 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably 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
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
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'- CCCGGGCTACTTAGTAAGATC -3'
(R):5'- TCAGGCTTCCAGTCACTATGG -3'

Sequencing Primer
(F):5'- CATGAGGAGACCCCGGAGATTC -3'
(R):5'- CACTATGGCTGGGAAGACTTGC -3'
Posted On 2017-08-16