Incidental Mutation 'R6005:Pds5b'
ID 482067
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 044425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6005 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 150693241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000110486] [ENSMUST00000202170] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect probably null
Transcript: ENSMUST00000016569
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021

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 null
Transcript: ENSMUST00000016569
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021

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 null
Transcript: ENSMUST00000038900
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021

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 null
Transcript: ENSMUST00000038900
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021

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 null
Transcript: ENSMUST00000110486
SMART Domains Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021

DomainStartEndE-ValueType
SCOP:d1gw5a_ 76 520 5e-10 SMART
low complexity region 627 638 N/A INTRINSIC
low complexity region 690 698 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110486
SMART Domains Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021

DomainStartEndE-ValueType
SCOP:d1gw5a_ 76 520 5e-10 SMART
low complexity region 627 638 N/A INTRINSIC
low complexity region 690 698 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154083
Predicted Effect probably null
Transcript: ENSMUST00000202170
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021

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
Predicted Effect probably null
Transcript: ENSMUST00000202170
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 99% (79/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik A T 15: 85,378,310 (GRCm39) I111N unknown Het
Adgb C T 10: 10,271,096 (GRCm39) R849H probably damaging Het
Ahnak T C 19: 8,992,525 (GRCm39) V4603A possibly damaging Het
Ank1 A G 8: 23,622,218 (GRCm39) D1589G probably damaging Het
Ankrd2 A G 19: 42,028,554 (GRCm39) D70G probably damaging Het
Arid2 T C 15: 96,268,853 (GRCm39) S989P probably benign Het
Bbs1 A T 19: 4,953,823 (GRCm39) Y113* probably null Het
Bfsp2 T G 9: 103,325,749 (GRCm39) K298T probably damaging Het
Bpi G A 2: 158,104,400 (GRCm39) V168I possibly damaging Het
Cacna2d1 T C 5: 16,566,819 (GRCm39) S921P probably damaging Het
Clec4d A C 6: 123,244,118 (GRCm39) T76P probably damaging Het
Coq8b C T 7: 26,956,750 (GRCm39) Q468* probably null Het
Dennd6b T C 15: 89,072,371 (GRCm39) E248G possibly damaging Het
Ednra A G 8: 78,401,556 (GRCm39) S245P possibly damaging Het
Epb41l4a C T 18: 33,961,196 (GRCm39) C446Y probably benign Het
Fam221a A G 6: 49,344,756 (GRCm39) probably benign Het
Fam229a T C 4: 129,385,296 (GRCm39) S76P probably benign Het
Fryl C T 5: 73,240,638 (GRCm39) D1321N probably damaging Het
Gata3os T C 2: 9,887,638 (GRCm39) probably benign Het
Gli2 C T 1: 118,769,794 (GRCm39) R586H probably damaging Het
Gm94 C T 18: 43,925,862 (GRCm39) A16T possibly damaging Het
Gorasp2 T C 2: 70,521,095 (GRCm39) V355A probably benign Het
Grid1 C A 14: 35,045,369 (GRCm39) T404N probably damaging Het
Gtf2i C A 5: 134,284,812 (GRCm39) E475* probably null Het
Gucy1a2 T C 9: 3,865,518 (GRCm39) probably null Het
Hs3st5 T A 10: 36,708,924 (GRCm39) I153N probably damaging Het
Il11ra1 T C 4: 41,763,887 (GRCm39) probably null Het
Ireb2 G A 9: 54,816,089 (GRCm39) G887S probably damaging Het
Kdsr T C 1: 106,662,311 (GRCm39) E248G probably benign Het
Lemd2 C G 17: 27,409,759 (GRCm39) R464P probably damaging Het
Lrrfip1 T C 1: 91,042,333 (GRCm39) V246A probably damaging Het
Macf1 T A 4: 123,368,068 (GRCm39) D2231V possibly damaging Het
Map2k5 C T 9: 63,188,301 (GRCm39) D283N probably damaging Het
Mfsd5 A G 15: 102,189,927 (GRCm39) D433G possibly damaging Het
Mir700 C A 4: 135,139,618 (GRCm39) probably null Het
Mroh9 A T 1: 162,903,246 (GRCm39) F52L probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Mycbp2 A C 14: 103,394,159 (GRCm39) S2691A probably benign Het
Myorg T A 4: 41,498,895 (GRCm39) H245L probably benign Het
Nktr T A 9: 121,577,460 (GRCm39) probably benign Het
Obsl1 C A 1: 75,468,859 (GRCm39) probably null Het
Or10ag60 A T 2: 87,438,424 (GRCm39) I231F probably damaging Het
Or52r1b A T 7: 102,690,853 (GRCm39) I51F probably damaging Het
Or5aq7 A G 2: 86,938,407 (GRCm39) V108A probably benign Het
Or7g35 C T 9: 19,496,181 (GRCm39) T116I probably benign Het
Or8c11 T C 9: 38,289,605 (GRCm39) S137P probably damaging Het
Pcdhb22 T A 18: 37,652,789 (GRCm39) I162N possibly damaging Het
Pde1c A T 6: 56,456,187 (GRCm39) probably null Het
Pkd1l1 A C 11: 8,807,113 (GRCm39) W1568G probably damaging Het
Polr3c A T 3: 96,626,784 (GRCm39) M258K possibly damaging Het
Pramel23 T A 4: 143,425,002 (GRCm39) H147L probably benign Het
Prss12 A T 3: 123,276,417 (GRCm39) I349F probably benign Het
Ptpn21 A G 12: 98,644,811 (GRCm39) *1177Q probably null Het
Rgs22 T A 15: 36,010,713 (GRCm39) K1125M probably benign Het
Rnf182 A G 13: 43,821,511 (GRCm39) K21E probably damaging Het
Rpl6 G A 5: 121,343,577 (GRCm39) probably benign Het
Samsn1 C T 16: 75,670,402 (GRCm39) V234I probably benign Het
Scrib A G 15: 75,929,600 (GRCm39) I1089T probably damaging Het
Sec31a T C 5: 100,511,737 (GRCm39) T1092A probably damaging Het
Sh3bp2 G T 5: 34,719,809 (GRCm39) R606L possibly damaging Het
Sipa1 A G 19: 5,706,229 (GRCm39) V367A probably damaging Het
Slc25a44 C T 3: 88,320,153 (GRCm39) E269K probably damaging Het
Slc44a4 T A 17: 35,142,430 (GRCm39) M353K possibly damaging Het
Sorcs2 A G 5: 36,176,728 (GRCm39) S1142P probably damaging Het
Sptbn4 A G 7: 27,118,024 (GRCm39) F352L probably damaging Het
Synj1 A T 16: 90,766,174 (GRCm39) N541K probably damaging Het
Tas2r113 G A 6: 132,870,659 (GRCm39) R229K probably benign Het
Tcaf3 A T 6: 42,566,905 (GRCm39) I728K probably benign Het
Tcea1 A G 1: 4,960,996 (GRCm39) E167G probably benign Het
Timeless G A 10: 128,080,069 (GRCm39) R406H probably damaging Het
Traf6 C T 2: 101,527,029 (GRCm39) R260* probably null Het
Traj31 C T 14: 54,425,388 (GRCm39) probably benign Het
Ttn A T 2: 76,599,907 (GRCm39) V19089D probably damaging Het
Unc80 C T 1: 66,666,416 (GRCm39) S1868L possibly damaging Het
Wdr38 A T 2: 38,891,333 (GRCm39) I287F possibly damaging Het
Wnt2 G A 6: 18,030,322 (GRCm39) probably benign Het
Wnt5b G A 6: 119,410,615 (GRCm39) P288L probably benign Het
Xkr5 G T 8: 18,984,521 (GRCm39) N174K probably benign Het
Zbtb6 C T 2: 37,318,977 (GRCm39) R317Q probably damaging Het
Zcchc7 AGGGG AGGG 4: 44,931,218 (GRCm39) probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging 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
R4885:Pds5b UTSW 5 150,639,927 (GRCm39) missense probably benign 0.21
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
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'- TACAGGAACATAGCATAGTTAACCC -3'
(R):5'- ACGATCTGATGTGAGGGAAATC -3'

Sequencing Primer
(F):5'- tcccaagacagggtttct -3'
(R):5'- AGGGAAATCCTCTTCAATTTTGC -3'
Posted On 2017-06-27