Incidental Mutation 'R1891:Pax5'
ID 211464
Institutional Source Beutler Lab
Gene Symbol Pax5
Ensembl Gene ENSMUSG00000014030
Gene Name paired box 5
Synonyms EBB-1, Pax-5
MMRRC Submission 039911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1891 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44524757-44710487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44691859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 129 (V129E)
Ref Sequence ENSEMBL: ENSMUSP00000134391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014174] [ENSMUST00000102932] [ENSMUST00000107825] [ENSMUST00000107826] [ENSMUST00000107827] [ENSMUST00000134968] [ENSMUST00000165417] [ENSMUST00000146335] [ENSMUST00000174242] [ENSMUST00000173821] [ENSMUST00000143235] [ENSMUST00000173733] [ENSMUST00000186542]
AlphaFold Q02650
Predicted Effect probably damaging
Transcript: ENSMUST00000014174
AA Change: V129E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 1e-4 SMART
Pfam:Pax2_C 279 390 6e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102932
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 1e-4 SMART
Pfam:Pax2_C 276 341 1.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107825
AA Change: V129E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 2e-4 SMART
Pfam:Pax2_C 279 356 5.7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107826
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 7e-4 SMART
low complexity region 269 281 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107827
AA Change: V129E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 4e-4 SMART
low complexity region 298 310 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134968
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
SCOP:d1ftt__ 177 211 1e-4 SMART
Pfam:Pax2_C 233 298 2.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165417
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
SCOP:d1ftt__ 177 211 1e-4 SMART
Pfam:Pax2_C 233 347 7.3e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146335
AA Change: V128E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139296
Gene: ENSMUSG00000014030
AA Change: V128E

DomainStartEndE-ValueType
PAX 15 139 8e-96 SMART
low complexity region 156 188 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174242
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173821
AA Change: V129E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 2e-4 SMART
low complexity region 306 325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143235
AA Change: V129E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
AA Change: V129E

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 1e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172866
AA Change: V73E
SMART Domains Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: V73E

DomainStartEndE-ValueType
PAX 4 85 2.44e-27 SMART
low complexity region 102 134 N/A INTRINSIC
SCOP:d1ftt__ 165 199 7e-5 SMART
Pfam:Pax2_C 224 335 2.3e-53 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174319
AA Change: V73E
SMART Domains Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
AA Change: V73E

DomainStartEndE-ValueType
PAX 4 85 2.44e-27 SMART
low complexity region 102 134 N/A INTRINSIC
SCOP:d1ftt__ 165 199 2e-4 SMART
low complexity region 251 270 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187197
Predicted Effect probably benign
Transcript: ENSMUST00000173733
SMART Domains Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
PAX 16 120 2.93e-30 SMART
SCOP:d1ftt__ 154 188 1e-4 SMART
Pfam:Pax2_C 212 290 8.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186542
SMART Domains Protein: ENSMUSP00000141186
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
PAX 15 108 1.2e-22 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Null mutants exhibit impaired development of the midbrain resulting in a reduced inferior colliculus and an altered cerebellar folial pattern, failure of B cell differentiation, runting, and high postnatal mortality with few survivors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,840,874 (GRCm39) I921T possibly damaging Het
Abca8a T C 11: 109,982,433 (GRCm39) K3R probably benign Het
Adgrl3 A T 5: 81,659,891 (GRCm39) D152V probably damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Akt1 A G 12: 112,626,009 (GRCm39) F88L probably damaging Het
Ankrd24 T C 10: 81,479,342 (GRCm39) probably benign Het
Arid4b T A 13: 14,310,821 (GRCm39) N141K possibly damaging Het
Cacna1c C A 6: 118,753,480 (GRCm39) D219Y probably damaging Het
Ccdc113 A G 8: 96,267,544 (GRCm39) K170E probably damaging Het
Ceacam9 A G 7: 16,457,880 (GRCm39) E136G probably damaging Het
Cfap43 A G 19: 47,802,380 (GRCm39) L333P probably damaging Het
Chl1 A G 6: 103,691,544 (GRCm39) D1062G possibly damaging Het
Cimip4 T A 15: 78,262,952 (GRCm39) D234V probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clpp T A 17: 57,298,307 (GRCm39) V91E probably damaging Het
Cndp1 A T 18: 84,637,758 (GRCm39) H325Q probably null Het
Cngb3 A G 4: 19,366,446 (GRCm39) N169S probably benign Het
Cog6 A C 3: 52,890,601 (GRCm39) I613R probably benign Het
Creb3l1 A G 2: 91,817,385 (GRCm39) L376P probably damaging Het
Cry2 A T 2: 92,243,985 (GRCm39) V396D possibly damaging Het
Cxxc5 A G 18: 35,992,318 (GRCm39) M240V possibly damaging Het
Defa28 G A 8: 22,073,801 (GRCm39) C68Y probably damaging Het
Ecd A G 14: 20,388,227 (GRCm39) I187T probably damaging Het
Erg28 A G 12: 85,862,962 (GRCm39) S117P probably benign Het
Ergic2 A T 6: 148,084,577 (GRCm39) C319S probably damaging Het
Ess2 C T 16: 17,725,644 (GRCm39) W183* probably null Het
Evc2 A C 5: 37,549,423 (GRCm39) D773A probably damaging Het
Fam151b T A 13: 92,586,678 (GRCm39) T252S probably benign Het
Fbxo28 A T 1: 182,145,389 (GRCm39) M233K probably benign Het
Fbxw26 T G 9: 109,551,232 (GRCm39) D355A probably benign Het
Gm4884 G C 7: 40,692,539 (GRCm39) E169D possibly damaging Het
Hk2 C T 6: 82,726,264 (GRCm39) R94Q probably benign Het
Hps4 G A 5: 112,517,422 (GRCm39) probably null Het
Hspg2 T A 4: 137,292,801 (GRCm39) D4126E probably damaging Het
Kif13a T C 13: 47,082,695 (GRCm39) E48G possibly damaging Het
Krt31 T A 11: 99,938,634 (GRCm39) N320Y probably damaging Het
Lca5 T C 9: 83,277,661 (GRCm39) Y561C probably damaging Het
Lrrk1 G A 7: 65,929,048 (GRCm39) L1195F probably damaging Het
Ly6g6d A C 17: 35,293,269 (GRCm39) Y25* probably null Het
Map3k13 T G 16: 21,729,836 (GRCm39) M489R probably damaging Het
Mcm6 C T 1: 128,263,547 (GRCm39) R658H probably damaging Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mitf A G 6: 97,918,237 (GRCm39) T94A probably benign Het
Mpo T A 11: 87,692,106 (GRCm39) L513* probably null Het
Mst1r T A 9: 107,790,661 (GRCm39) N722K probably damaging Het
Mthfd1l T A 10: 3,982,284 (GRCm39) L497* probably null Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nbas T C 12: 13,440,973 (GRCm39) M1101T possibly damaging Het
Odad3 G T 9: 21,906,677 (GRCm39) probably null Het
Or2y1b T C 11: 49,208,684 (GRCm39) F104L probably benign Het
Or4f60 A T 2: 111,902,739 (GRCm39) L63Q probably damaging Het
Or52l1 A T 7: 104,829,754 (GRCm39) Y270* probably null Het
Or5ae1 T A 7: 84,565,461 (GRCm39) V158D possibly damaging Het
Or6c33 T C 10: 129,853,439 (GRCm39) S70P probably damaging Het
Or7a40 T A 16: 16,491,441 (GRCm39) I135F probably damaging Het
Or7g20 T C 9: 18,947,274 (GRCm39) L285S probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Oxct2b A G 4: 123,010,938 (GRCm39) D286G probably benign Het
Pax7 G A 4: 139,511,937 (GRCm39) R215C probably damaging Het
Pcdh7 A T 5: 57,878,217 (GRCm39) I591F probably damaging Het
Pcdhb22 T C 18: 37,652,357 (GRCm39) V275A probably damaging Het
Pkp3 C T 7: 140,663,969 (GRCm39) probably null Het
Plekhb1 A G 7: 100,304,599 (GRCm39) L35P probably damaging Het
Pole T A 5: 110,480,408 (GRCm39) F1993Y probably damaging Het
Pramel28 A T 4: 143,693,235 (GRCm39) V81E probably damaging Het
Prdx1 T C 4: 116,556,451 (GRCm39) *200R probably null Het
Prkdc C A 16: 15,543,300 (GRCm39) T1777N probably benign Het
Prss59 A T 6: 40,902,967 (GRCm39) M135K possibly damaging Het
Ptpn14 G A 1: 189,530,850 (GRCm39) V106M probably damaging Het
Ptpn23 T C 9: 110,222,868 (GRCm39) E63G possibly damaging Het
Qser1 A C 2: 104,620,444 (GRCm39) S123A probably benign Het
Rbm11 A G 16: 75,397,675 (GRCm39) N202D possibly damaging Het
Robo3 T A 9: 37,339,351 (GRCm39) Y212F probably damaging Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Serpinb1c T A 13: 33,068,235 (GRCm39) D179V probably benign Het
Skint6 T C 4: 112,703,893 (GRCm39) D994G possibly damaging Het
Sorbs1 A G 19: 40,381,904 (GRCm39) S46P probably damaging Het
St8sia4 T C 1: 95,519,433 (GRCm39) T352A possibly damaging Het
Stab1 C A 14: 30,863,287 (GRCm39) R2133L probably benign Het
Stk11ip T C 1: 75,509,060 (GRCm39) C730R probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tle4 A T 19: 14,522,150 (GRCm39) probably null Het
Tmem200a T A 10: 25,869,970 (GRCm39) N100Y probably damaging Het
Tnnt2 A T 1: 135,768,597 (GRCm39) probably null Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Urgcp T C 11: 5,666,910 (GRCm39) E476G probably benign Het
Vmn1r201 G A 13: 22,659,425 (GRCm39) R213H probably benign Het
Vmn2r84 C T 10: 130,221,938 (GRCm39) V761M possibly damaging Het
Vwde A T 6: 13,187,454 (GRCm39) Y678N probably damaging Het
Wnk2 C A 13: 49,206,200 (GRCm39) E1865* probably null Het
Zc3h3 A C 15: 75,628,780 (GRCm39) M838R possibly damaging Het
Zfp959 T A 17: 56,204,604 (GRCm39) C211S probably damaging Het
Other mutations in Pax5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02369:Pax5 APN 4 44,691,919 (GRCm39) missense probably damaging 1.00
IGL02700:Pax5 APN 4 44,682,722 (GRCm39) missense probably damaging 0.99
IGL02754:Pax5 APN 4 44,570,059 (GRCm39) missense probably damaging 0.96
apple UTSW 4 0 () unclassified
Denim UTSW 4 44,645,661 (GRCm39) nonsense probably null
Glacier UTSW 4 44,679,494 (GRCm39) missense probably damaging 1.00
glacier2 UTSW 4 44,710,407 (GRCm39) start codon destroyed probably null 0.96
Glacier3 UTSW 4 44,679,526 (GRCm39) missense probably damaging 1.00
jeans UTSW 4 44,645,621 (GRCm39) missense probably benign 0.03
k2 UTSW 4 44,697,630 (GRCm39) missense probably damaging 1.00
menshevik UTSW 4 44,570,071 (GRCm39) missense probably damaging 1.00
Son_of_apple UTSW 4 44,710,583 (GRCm39) unclassified probably benign
R0411:Pax5 UTSW 4 44,609,783 (GRCm39) missense probably damaging 0.99
R0415:Pax5 UTSW 4 44,691,886 (GRCm39) missense probably damaging 1.00
R0655:Pax5 UTSW 4 44,537,462 (GRCm39) missense probably damaging 0.97
R1146:Pax5 UTSW 4 44,697,512 (GRCm39) splice site probably benign
R1752:Pax5 UTSW 4 44,609,729 (GRCm39) missense probably damaging 1.00
R4766:Pax5 UTSW 4 44,679,494 (GRCm39) missense probably damaging 1.00
R4783:Pax5 UTSW 4 44,570,086 (GRCm39) missense probably damaging 1.00
R5134:Pax5 UTSW 4 44,710,407 (GRCm39) start codon destroyed probably null 0.96
R5341:Pax5 UTSW 4 44,697,630 (GRCm39) missense probably damaging 1.00
R5458:Pax5 UTSW 4 44,679,526 (GRCm39) missense probably damaging 1.00
R6281:Pax5 UTSW 4 44,691,955 (GRCm39) missense probably benign 0.37
R6871:Pax5 UTSW 4 44,710,583 (GRCm39) unclassified probably benign
R7025:Pax5 UTSW 4 44,679,501 (GRCm39) nonsense probably null
R7204:Pax5 UTSW 4 44,679,485 (GRCm39) missense possibly damaging 0.93
R7975:Pax5 UTSW 4 44,537,465 (GRCm39) missense probably damaging 0.98
R8246:Pax5 UTSW 4 44,570,027 (GRCm39) missense probably benign 0.08
R8527:Pax5 UTSW 4 44,570,071 (GRCm39) missense probably damaging 1.00
R8542:Pax5 UTSW 4 44,570,071 (GRCm39) missense probably damaging 1.00
R8836:Pax5 UTSW 4 44,645,621 (GRCm39) missense probably benign 0.03
R8847:Pax5 UTSW 4 44,691,865 (GRCm39) missense probably benign 0.15
R8987:Pax5 UTSW 4 44,645,661 (GRCm39) nonsense probably null
R9404:Pax5 UTSW 4 44,645,565 (GRCm39) missense possibly damaging 0.80
S24628:Pax5 UTSW 4 44,691,886 (GRCm39) missense probably damaging 1.00
X0018:Pax5 UTSW 4 44,691,880 (GRCm39) missense probably damaging 1.00
Z1176:Pax5 UTSW 4 44,697,678 (GRCm39) missense probably damaging 1.00
Z1177:Pax5 UTSW 4 44,697,558 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGCGGCCTGGATATTGG -3'
(R):5'- ACCATGGCTAACTATGGTCCTCTC -3'

Sequencing Primer
(F):5'- GGCTTGATGTCCTCTCCCAGTAG -3'
(R):5'- CCTCTTGGGTCTAGGTATTATGAGAC -3'
Posted On 2014-06-30