Incidental Mutation 'R8315:Pbx2'
ID 641662
Institutional Source Beutler Lab
Gene Symbol Pbx2
Ensembl Gene ENSMUSG00000034673
Gene Name pre B cell leukemia homeobox 2
Synonyms G17
MMRRC Submission 067720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8315 (G1)
Quality Score 224.009
Status Not validated
Chromosome 17
Chromosomal Location 34811233-34816374 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34811707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 60 (I60M)
Ref Sequence ENSEMBL: ENSMUSP00000040464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000038149] [ENSMUST00000038244] [ENSMUST00000150924] [ENSMUST00000173328] [ENSMUST00000173389] [ENSMUST00000173772] [ENSMUST00000174532] [ENSMUST00000183827]
AlphaFold O35984
Predicted Effect probably benign
Transcript: ENSMUST00000015612
SMART Domains Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF 24 60 3.2e-4 SMART
EGF 64 112 1.07e-5 SMART
EGF 118 152 5.49e-3 SMART
EGF 156 189 9.33e-6 SMART
EGF_CA 191 229 1.42e-10 SMART
EGF 234 271 1.11e-3 SMART
EGF 276 309 1.84e-4 SMART
EGF_CA 311 350 2.52e-11 SMART
EGF_CA 352 388 1.85e-9 SMART
EGF 392 427 1.58e-3 SMART
EGF_CA 429 470 2.46e-14 SMART
EGF_CA 472 508 5.03e-11 SMART
EGF_CA 510 546 6.74e-12 SMART
EGF_CA 548 584 2.98e-13 SMART
EGF_CA 586 622 7.63e-11 SMART
EGF_like 645 686 2.86e1 SMART
EGF 691 724 3.48e-5 SMART
EGF 729 762 3.62e-3 SMART
EGF_CA 764 800 1.48e-8 SMART
EGF 806 839 1.74e-5 SMART
EGF 844 877 2.3e-5 SMART
EGF 881 924 3.59e-7 SMART
EGF_CA 926 962 7.29e-8 SMART
EGF_CA 965 1000 4.42e-7 SMART
EGF_CA 1002 1040 4.56e-9 SMART
EGF 1045 1081 6.16e-6 SMART
EGF 1086 1122 8.65e-1 SMART
EGF 1129 1167 1.45e-2 SMART
NL 1159 1200 6.79e-13 SMART
NL 1203 1242 2.01e-15 SMART
NL 1243 1281 1.85e-14 SMART
NOD 1287 1341 4.37e-8 SMART
NODP 1373 1437 2.12e-6 SMART
transmembrane domain 1441 1463 N/A INTRINSIC
low complexity region 1525 1539 N/A INTRINSIC
ANK 1578 1623 2.5e3 SMART
ANK 1628 1657 1.12e-3 SMART
ANK 1661 1691 5.01e-1 SMART
ANK 1695 1724 1.65e-1 SMART
ANK 1728 1757 4.56e-4 SMART
ANK 1761 1790 2.88e-1 SMART
low complexity region 1889 1906 N/A INTRINSIC
low complexity region 1925 1937 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000038149
AA Change: I60M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
AA Change: I60M

DomainStartEndE-ValueType
low complexity region 7 49 N/A INTRINSIC
Pfam:PBC 50 243 1.3e-97 PFAM
HOX 244 309 1.9e-18 SMART
low complexity region 327 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038244
SMART Domains Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
GoLoco 61 83 2.02e-6 SMART
low complexity region 86 100 N/A INTRINSIC
GoLoco 103 125 2.42e-4 SMART
GoLoco 131 154 4.05e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150924
Predicted Effect probably benign
Transcript: ENSMUST00000173328
SMART Domains Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 161 5e-84 PFAM
HOX 162 227 1.9e-18 SMART
low complexity region 245 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173389
SMART Domains Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF 28 64 3.2e-4 SMART
EGF 68 116 1.07e-5 SMART
EGF 122 156 5.49e-3 SMART
EGF 160 193 9.33e-6 SMART
EGF_CA 195 233 1.42e-10 SMART
EGF 238 275 1.11e-3 SMART
EGF 280 313 1.84e-4 SMART
EGF_CA 315 354 2.52e-11 SMART
EGF_CA 356 392 1.85e-9 SMART
EGF 396 431 1.58e-3 SMART
EGF_CA 433 474 2.46e-14 SMART
EGF_CA 476 512 5.03e-11 SMART
EGF_CA 514 550 6.74e-12 SMART
EGF_CA 552 588 2.98e-13 SMART
EGF_CA 590 626 7.63e-11 SMART
EGF_like 649 690 2.86e1 SMART
EGF 695 728 3.48e-5 SMART
EGF 733 766 3.62e-3 SMART
EGF_CA 768 804 1.48e-8 SMART
EGF 810 843 1.74e-5 SMART
EGF 848 881 2.3e-5 SMART
EGF 885 928 3.59e-7 SMART
EGF_like 930 955 7.02e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173772
SMART Domains Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786

DomainStartEndE-ValueType
GoLoco 27 50 4.05e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174532
SMART Domains Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 148 3.5e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183827
SMART Domains Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 183 9.5e-98 PFAM
HOX 184 249 1.9e-18 SMART
low complexity region 267 293 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,328,460 (GRCm39) E3511V probably null Het
Abca13 A G 11: 9,535,502 (GRCm39) T4709A probably benign Het
Aff1 G T 5: 103,958,956 (GRCm39) V342F probably damaging Het
Ahnak2 T A 12: 112,745,756 (GRCm39) Q1698L Het
Ajap1 G T 4: 153,516,813 (GRCm39) T176K probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Cct3 A G 3: 88,220,564 (GRCm39) T259A probably benign Het
Cdk8 C T 5: 146,205,061 (GRCm39) L21F probably damaging Het
Cimip4 T C 15: 78,262,686 (GRCm39) R262G probably benign Het
Csf2rb G A 15: 78,231,581 (GRCm39) G494D possibly damaging Het
Cstf3 G T 2: 104,420,926 (GRCm39) probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
Dcp2 T C 18: 44,529,071 (GRCm39) I62T probably benign Het
Dnaaf9 ATCCTCCTCCTCCTCCTCC ATCCTCCTCCTCCTCC 2: 130,612,655 (GRCm39) probably benign Het
Dpp8 T C 9: 64,988,133 (GRCm39) *893Q probably null Het
Dpyd A T 3: 119,108,534 (GRCm39) H859L probably benign Het
Dst T C 1: 34,323,501 (GRCm39) probably null Het
Dynlt2a2 A G 17: 15,190,717 (GRCm39) Y81H probably damaging Het
Egfr A G 11: 16,825,027 (GRCm39) I456V probably benign Het
Elf3 A G 1: 135,184,314 (GRCm39) F185L probably benign Het
Emx1 A G 6: 85,171,088 (GRCm39) T164A possibly damaging Het
Fras1 G A 5: 96,891,041 (GRCm39) V2857M probably damaging Het
Gba2 AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA AAA 4: 43,569,937 (GRCm39) probably null Het
Gda T A 19: 21,394,435 (GRCm39) T215S probably benign Het
Gm14443 C T 2: 175,013,640 (GRCm39) probably null Het
Gpr152 C T 19: 4,193,469 (GRCm39) P337S probably damaging Het
H2-T10 A G 17: 36,429,905 (GRCm39) I296T probably benign Het
Hoxd11 G A 2: 74,513,466 (GRCm39) E244K probably benign Het
Inka1 C A 9: 107,861,506 (GRCm39) S270I probably damaging Het
Kazn C T 4: 141,869,002 (GRCm39) D325N Het
Lama2 T C 10: 27,298,655 (GRCm39) N147S probably damaging Het
Lamc1 A T 1: 153,119,167 (GRCm39) N817K probably benign Het
Met T C 6: 17,533,956 (GRCm39) S636P probably damaging Het
Mrgpra3 A T 7: 47,251,051 (GRCm39) M1K probably null Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or10ag2 C A 2: 87,248,995 (GRCm39) A201D probably damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Or8c13 T C 9: 38,091,505 (GRCm39) T205A probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pla2g4a T C 1: 149,761,965 (GRCm39) N164S probably benign Het
Poln A G 5: 34,266,717 (GRCm39) M480T probably benign Het
Ppp2r2a T C 14: 67,261,177 (GRCm39) N181S probably damaging Het
Ppp3r2 A C 4: 49,681,705 (GRCm39) F82V probably damaging Het
Prox2 A G 12: 85,142,182 (GRCm39) V7A probably benign Het
Ptpn3 A T 4: 57,270,063 (GRCm39) I33K possibly damaging Het
Rad21l A T 2: 151,497,160 (GRCm39) M318K probably benign Het
Rftn1 A G 17: 50,309,665 (GRCm39) S445P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Rtp4 C T 16: 23,431,998 (GRCm39) P177S possibly damaging Het
Saa4 T A 7: 46,379,052 (GRCm39) N96I possibly damaging Het
Shb A G 4: 45,489,079 (GRCm39) Y266H probably damaging Het
Slc45a4 T G 15: 73,461,405 (GRCm39) Y88S probably damaging Het
Tbccd1 A G 16: 22,641,564 (GRCm39) M312T probably damaging Het
Tecta C T 9: 42,299,121 (GRCm39) probably null Het
Tle1 A T 4: 72,044,428 (GRCm39) C526* probably null Het
Tmem87a C T 2: 120,234,441 (GRCm39) G34D probably damaging Het
Trav13d-1 C A 14: 53,089,059 (GRCm39) Q23K probably benign Het
Txndc11 G T 16: 10,893,465 (GRCm39) T755N possibly damaging Het
Vmn1r223 A G 13: 23,434,339 (GRCm39) D311G probably damaging Het
Vmn2r66 T A 7: 84,643,932 (GRCm39) Y826F possibly damaging Het
Wdr90 A T 17: 26,064,399 (GRCm39) M1824K probably benign Het
Zfp523 G A 17: 28,421,562 (GRCm39) G440D possibly damaging Het
Other mutations in Pbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Pbx2 APN 17 34,814,592 (GRCm39) splice site probably benign
IGL01923:Pbx2 APN 17 34,813,024 (GRCm39) missense probably damaging 1.00
R1748:Pbx2 UTSW 17 34,812,951 (GRCm39) missense possibly damaging 0.81
R2182:Pbx2 UTSW 17 34,814,640 (GRCm39) nonsense probably null
R4257:Pbx2 UTSW 17 34,813,619 (GRCm39) missense probably damaging 1.00
R5011:Pbx2 UTSW 17 34,813,673 (GRCm39) nonsense probably null
R6161:Pbx2 UTSW 17 34,812,574 (GRCm39) missense probably damaging 1.00
R6888:Pbx2 UTSW 17 34,813,081 (GRCm39) missense possibly damaging 0.75
R8047:Pbx2 UTSW 17 34,814,262 (GRCm39) missense probably benign 0.00
R8930:Pbx2 UTSW 17 34,813,563 (GRCm39) missense probably damaging 1.00
R8932:Pbx2 UTSW 17 34,813,563 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCAGTGCCGGGGTGAAC -3'
(R):5'- GTGAGACCACCTGGGGTTC -3'

Sequencing Primer
(F):5'- AGCTATGGACGAGCGGCTG -3'
(R):5'- ACCTGGGGTTCGCTCTG -3'
Posted On 2020-07-28