Incidental Mutation 'R8786:Pds5b'
ID 670628
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 068632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8786 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150704134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 846 (S846P)
Ref Sequence ENSEMBL: ENSMUSP00000016569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect probably damaging
Transcript: ENSMUST00000016569
AA Change: S846P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: S846P

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 damaging
Transcript: ENSMUST00000038900
AA Change: S846P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: S846P

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 damaging
Transcript: ENSMUST00000110486
AA Change: S317P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021
AA Change: S317P

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 damaging
Transcript: ENSMUST00000202170
AA Change: S846P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: S846P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (72/72)
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
Adamtsl4 A T 3: 95,592,784 (GRCm39) M1K probably null Het
Atg2a G T 19: 6,294,460 (GRCm39) V59L probably damaging Het
Atxn7 C A 14: 14,103,316 (GRCm38) T888K possibly damaging Het
Btbd9 T C 17: 30,749,144 (GRCm39) R57G probably damaging Het
Catspere2 T A 1: 177,843,362 (GRCm39) probably benign Het
Catspere2 G A 1: 177,843,555 (GRCm39) probably benign Het
Ccdc9b C A 2: 118,587,732 (GRCm39) S534I unknown Het
Crp T C 1: 172,526,293 (GRCm39) V126A probably benign Het
Csf1r A T 18: 61,247,942 (GRCm39) T337S probably damaging Het
Dcaf12 T C 4: 41,296,439 (GRCm39) N299S probably damaging Het
Dcaf17 T C 2: 70,917,744 (GRCm39) probably null Het
Dip2c A G 13: 9,665,830 (GRCm39) D985G probably damaging Het
Dtna A G 18: 23,716,190 (GRCm39) T138A probably benign Het
Emid1 T C 11: 5,081,517 (GRCm39) D212G probably benign Het
Epyc G A 10: 97,511,525 (GRCm39) D173N probably damaging Het
Fanci A G 7: 79,052,298 (GRCm39) D162G probably benign Het
Firrm A T 1: 163,792,040 (GRCm39) L626Q probably damaging Het
Fry T C 5: 150,317,501 (GRCm39) V827A probably benign Het
Ggps1 T C 13: 14,228,505 (GRCm39) E226G probably benign Het
Gopc G A 10: 52,230,750 (GRCm39) R183* probably null Het
Grik4 C T 9: 42,453,130 (GRCm39) G752S probably damaging Het
H2-D1 T A 17: 35,482,844 (GRCm39) C125S probably damaging Het
H2-Q1 T A 17: 35,539,869 (GRCm39) V46D probably damaging Het
Hsd17b3 T C 13: 64,219,862 (GRCm39) N126S probably damaging Het
Igsf10 G A 3: 59,238,063 (GRCm39) T706I probably benign Het
Kmt2e A G 5: 23,669,864 (GRCm39) D117G probably damaging Het
Kmt5a C T 5: 124,584,074 (GRCm39) A18V probably benign Het
Krtap29-1 C T 11: 99,869,465 (GRCm39) G139R probably damaging Het
Lama5 T C 2: 179,838,100 (GRCm39) Y872C probably damaging Het
Lrriq4 T A 3: 30,704,752 (GRCm39) M260K probably benign Het
Map2 G A 1: 66,472,755 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,169,340 (GRCm39) A8V probably benign Het
Ndufs3 T C 2: 90,732,778 (GRCm39) T103A probably benign Het
Numa1 T G 7: 101,647,616 (GRCm39) L449R probably benign Het
Or10g3b C T 14: 52,587,021 (GRCm39) A161T possibly damaging Het
Pan3 C T 5: 147,424,951 (GRCm39) P295S possibly damaging Het
Phf2 A T 13: 48,967,219 (GRCm39) M712K unknown Het
Phlda2 A T 7: 143,056,211 (GRCm39) V6E probably benign Het
Pkdrej C A 15: 85,704,044 (GRCm39) A631S probably benign Het
Plcd3 G T 11: 102,962,569 (GRCm39) N627K probably damaging Het
Prpf6 T C 2: 181,262,415 (GRCm39) I138T possibly damaging Het
Psd4 G A 2: 24,295,444 (GRCm39) S866N probably benign Het
Ptprb A C 10: 116,155,306 (GRCm39) T400P probably benign Het
Rxfp1 T C 3: 79,570,677 (GRCm39) probably null Het
Sbf2 A G 7: 110,063,793 (GRCm39) probably null Het
Serpinb9h G A 13: 33,588,204 (GRCm39) R263H probably benign Het
Setd4 C T 16: 93,390,162 (GRCm39) R89Q probably benign Het
Sgpp1 A G 12: 75,763,152 (GRCm39) I343T probably benign Het
Sh2b2 T C 5: 136,260,658 (GRCm39) D186G probably benign Het
Slc12a4 A T 8: 106,680,549 (GRCm39) I191N probably damaging Het
Slc4a4 A T 5: 89,232,549 (GRCm39) D251V probably benign Het
Slc6a5 A T 7: 49,561,843 (GRCm39) D125V possibly damaging Het
Slf1 T A 13: 77,274,806 (GRCm39) I16F possibly damaging Het
Sncaip T C 18: 53,031,334 (GRCm39) V521A probably damaging Het
Spmip10 T C 18: 56,727,568 (GRCm39) F89L probably damaging Het
Stx19 T C 16: 62,642,775 (GRCm39) L197P probably damaging Het
Sucla2 A G 14: 73,797,905 (GRCm39) N39D probably benign Het
Sult1d1 T A 5: 87,712,575 (GRCm39) T90S probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r138 A G 6: 40,589,611 (GRCm39) S212P probably damaging Het
Tdrd3 T A 14: 87,709,637 (GRCm39) C106* probably null Het
Tlk2 C T 11: 105,172,059 (GRCm39) A743V unknown Het
Tlr3 T C 8: 45,851,286 (GRCm39) D537G possibly damaging Het
Tmc1 A G 19: 20,803,953 (GRCm39) Y375H probably damaging Het
Tsen54 T A 11: 115,711,498 (GRCm39) M305K probably damaging Het
Umod C T 7: 119,076,581 (GRCm39) V62M possibly damaging Het
Vmn1r10 A G 6: 57,091,010 (GRCm39) T201A probably benign Het
Vmn1r103 T C 7: 20,243,676 (GRCm39) T262A probably benign Het
Vmn2r100 T C 17: 19,742,838 (GRCm39) V404A probably damaging Het
Vmn2r56 A G 7: 12,449,393 (GRCm39) F282L probably damaging Het
Wdr64 A T 1: 175,636,327 (GRCm39) K982* probably null Het
Xpo6 A T 7: 125,712,127 (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
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
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
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'- CTCATTCTTGGAGGTTGAAACAACTC -3'
(R):5'- ACTGACAAACTAGTGCTAACTGTC -3'

Sequencing Primer
(F):5'- AAAACACTGTGTTATCTTCCTGC -3'
(R):5'- CCAAGTATCTGGAAACAGTAA -3'
Posted On 2021-04-30