Incidental Mutation 'R4885:Pds5b'
ID 375633
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 150639927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 14 (T14I)
Ref Sequence ENSEMBL: ENSMUSP00000144572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect probably benign
Transcript: ENSMUST00000016569
AA Change: T14I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: T14I

DomainStartEndE-ValueType
SCOP:d1gw5a_ 244 773 6e-33 SMART
low complexity region 1156 1167 N/A INTRINSIC
AT_hook 1247 1259 4.14e1 SMART
AT_hook 1285 1297 1.35e2 SMART
low complexity region 1307 1316 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
AT_hook 1370 1382 1.46e0 SMART
low complexity region 1437 1446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038900
AA Change: T14I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: T14I

DomainStartEndE-ValueType
SCOP:d1gw5a_ 244 773 6e-33 SMART
low complexity region 1156 1167 N/A INTRINSIC
AT_hook 1249 1261 4.14e1 SMART
AT_hook 1287 1299 1.35e2 SMART
low complexity region 1309 1318 N/A INTRINSIC
low complexity region 1320 1331 N/A INTRINSIC
AT_hook 1373 1385 1.46e0 SMART
low complexity region 1440 1449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202170
AA Change: T14I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: T14I

DomainStartEndE-ValueType
SCOP:d1gw5a_ 244 773 6e-33 SMART
low complexity region 1156 1167 N/A INTRINSIC
AT_hook 1249 1261 4.14e1 SMART
AT_hook 1287 1299 1.35e2 SMART
low complexity region 1309 1318 N/A INTRINSIC
low complexity region 1320 1331 N/A INTRINSIC
AT_hook 1372 1384 1.46e0 SMART
low complexity region 1439 1448 N/A INTRINSIC
Meta Mutation Damage Score 0.1017 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality with cardiac defects, craniofacial abnormalities, axial skeletal defects, shortening of most of the long bones, abnormal enteric nervous system morphology, and decreased germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign Het
Other mutations in Pds5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Pds5b APN 5 150,646,007 (GRCm39) missense probably benign 0.25
IGL01530:Pds5b APN 5 150,715,640 (GRCm39) missense probably benign 0.38
IGL01812:Pds5b APN 5 150,704,154 (GRCm39) missense probably damaging 1.00
IGL02163:Pds5b APN 5 150,679,871 (GRCm39) missense probably benign 0.00
IGL02730:Pds5b APN 5 150,704,217 (GRCm39) splice site probably benign
IGL02825:Pds5b APN 5 150,652,435 (GRCm39) missense possibly damaging 0.90
IGL03143:Pds5b APN 5 150,702,722 (GRCm39) missense probably damaging 1.00
IGL03379:Pds5b APN 5 150,711,796 (GRCm39) missense probably damaging 1.00
PIT4283001:Pds5b UTSW 5 150,701,774 (GRCm39) missense probably damaging 0.99
R0026:Pds5b UTSW 5 150,673,295 (GRCm39) splice site probably benign
R0197:Pds5b UTSW 5 150,677,896 (GRCm39) missense probably benign 0.28
R0347:Pds5b UTSW 5 150,659,892 (GRCm39) splice site probably benign
R0396:Pds5b UTSW 5 150,702,740 (GRCm39) missense possibly damaging 0.96
R0400:Pds5b UTSW 5 150,646,818 (GRCm39) missense possibly damaging 0.46
R0442:Pds5b UTSW 5 150,640,009 (GRCm39) splice site probably benign
R0745:Pds5b UTSW 5 150,729,136 (GRCm39) missense probably benign
R0839:Pds5b UTSW 5 150,688,427 (GRCm39) missense probably benign 0.23
R0866:Pds5b UTSW 5 150,662,656 (GRCm39) splice site probably benign
R1247:Pds5b UTSW 5 150,698,819 (GRCm39) critical splice acceptor site probably benign
R1330:Pds5b UTSW 5 150,684,542 (GRCm39) missense probably damaging 0.97
R1440:Pds5b UTSW 5 150,677,882 (GRCm39) missense probably damaging 1.00
R1526:Pds5b UTSW 5 150,639,865 (GRCm39) splice site probably null
R2010:Pds5b UTSW 5 150,698,819 (GRCm39) critical splice acceptor site probably benign
R2051:Pds5b UTSW 5 150,671,655 (GRCm39) missense probably damaging 1.00
R2507:Pds5b UTSW 5 150,679,893 (GRCm39) missense possibly damaging 0.90
R3111:Pds5b UTSW 5 150,643,372 (GRCm39) missense probably damaging 1.00
R3820:Pds5b UTSW 5 150,659,802 (GRCm39) missense possibly damaging 0.94
R3911:Pds5b UTSW 5 150,670,171 (GRCm39) missense probably benign 0.41
R4077:Pds5b UTSW 5 150,717,824 (GRCm39) missense possibly damaging 0.62
R4118:Pds5b UTSW 5 150,698,819 (GRCm39) critical splice acceptor site probably benign
R4342:Pds5b UTSW 5 150,724,319 (GRCm39) missense probably benign 0.17
R4416:Pds5b UTSW 5 150,659,861 (GRCm39) missense probably damaging 1.00
R4503:Pds5b UTSW 5 150,652,399 (GRCm39) missense probably damaging 1.00
R4524:Pds5b UTSW 5 150,711,781 (GRCm39) missense probably damaging 1.00
R4579:Pds5b UTSW 5 150,670,197 (GRCm39) missense probably damaging 0.98
R4623:Pds5b UTSW 5 150,724,066 (GRCm39) missense probably benign 0.37
R4847:Pds5b UTSW 5 150,671,577 (GRCm39) missense probably damaging 1.00
R5271:Pds5b UTSW 5 150,646,818 (GRCm39) missense possibly damaging 0.46
R5281:Pds5b UTSW 5 150,670,073 (GRCm39) missense probably benign 0.26
R5337:Pds5b UTSW 5 150,717,062 (GRCm39) missense probably benign 0.03
R5635:Pds5b UTSW 5 150,701,686 (GRCm39) missense possibly damaging 0.78
R5677:Pds5b UTSW 5 150,639,926 (GRCm39) missense possibly damaging 0.91
R6005:Pds5b UTSW 5 150,693,241 (GRCm39) splice site probably null
R6139:Pds5b UTSW 5 150,724,242 (GRCm39) missense possibly damaging 0.81
R6225:Pds5b UTSW 5 150,670,083 (GRCm39) missense probably damaging 0.98
R6279:Pds5b UTSW 5 150,646,713 (GRCm39) missense possibly damaging 0.80
R6300:Pds5b UTSW 5 150,646,713 (GRCm39) missense possibly damaging 0.80
R6666:Pds5b UTSW 5 150,701,631 (GRCm39) missense probably damaging 1.00
R6805:Pds5b UTSW 5 150,729,026 (GRCm39) splice site probably null
R7038:Pds5b UTSW 5 150,724,225 (GRCm39) missense probably benign 0.02
R7046:Pds5b UTSW 5 150,673,385 (GRCm39) missense probably damaging 1.00
R7051:Pds5b UTSW 5 150,717,747 (GRCm39) missense possibly damaging 0.78
R7138:Pds5b UTSW 5 150,724,142 (GRCm39) nonsense probably null
R7255:Pds5b UTSW 5 150,720,132 (GRCm39) missense probably benign 0.33
R7467:Pds5b UTSW 5 150,659,792 (GRCm39) missense probably damaging 0.99
R7488:Pds5b UTSW 5 150,646,802 (GRCm39) missense probably damaging 0.97
R7512:Pds5b UTSW 5 150,711,807 (GRCm39) missense probably damaging 1.00
R7561:Pds5b UTSW 5 150,662,783 (GRCm39) critical splice donor site probably null
R7576:Pds5b UTSW 5 150,701,726 (GRCm39) missense probably damaging 1.00
R7889:Pds5b UTSW 5 150,715,637 (GRCm39) missense probably damaging 1.00
R7982:Pds5b UTSW 5 150,693,406 (GRCm39) missense probably damaging 1.00
R8059:Pds5b UTSW 5 150,731,300 (GRCm39) missense unknown
R8211:Pds5b UTSW 5 150,652,407 (GRCm39) missense possibly damaging 0.90
R8412:Pds5b UTSW 5 150,643,424 (GRCm39) missense probably damaging 1.00
R8503:Pds5b UTSW 5 150,639,972 (GRCm39) missense possibly damaging 0.95
R8556:Pds5b UTSW 5 150,716,073 (GRCm39) missense probably benign
R8786:Pds5b UTSW 5 150,704,134 (GRCm39) missense probably damaging 1.00
R8929:Pds5b UTSW 5 150,643,379 (GRCm39) missense probably damaging 1.00
R8985:Pds5b UTSW 5 150,724,239 (GRCm39) missense probably benign 0.38
R9184:Pds5b UTSW 5 150,724,249 (GRCm39) missense probably benign 0.04
R9343:Pds5b UTSW 5 150,704,186 (GRCm39) missense probably damaging 1.00
R9432:Pds5b UTSW 5 150,693,256 (GRCm39) missense probably damaging 1.00
R9571:Pds5b UTSW 5 150,645,971 (GRCm39) missense probably damaging 1.00
R9712:Pds5b UTSW 5 150,729,128 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CCAGTAGAATACTTTTCAGTAGCTGTC -3'
(R):5'- GCAGTAGCATCCCACTGTTTC -3'

Sequencing Primer
(F):5'- TTTCAGTAGCTGTCTAAATTACTCTG -3'
(R):5'- AGTAGCATCCCACTGTTTCTTACCTG -3'
Posted On 2016-03-17