Incidental Mutation 'R2507:Pds5b'
ID 251316
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2507 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 150679893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 533 (T533K)
Ref Sequence ENSEMBL: ENSMUSP00000144572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect possibly damaging
Transcript: ENSMUST00000016569
AA Change: T533K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: T533K

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 possibly damaging
Transcript: ENSMUST00000038900
AA Change: T533K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: T533K

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 possibly damaging
Transcript: ENSMUST00000110486
AA Change: T4K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021
AA Change: T4K

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 noncoding transcript
Transcript: ENSMUST00000200678
Predicted Effect possibly damaging
Transcript: ENSMUST00000202170
AA Change: T533K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: T533K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R 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
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
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'- TGGTCACATGGCTTCTGTAC -3'
(R):5'- AAGCCTGTGTAATGACTTAGTTCTC -3'

Sequencing Primer
(F):5'- GGTCACATGGCTTCTGTACTTTTAAC -3'
(R):5'- TCTGGATAGCACACAGAATA -3'
Posted On 2014-12-04