Incidental Mutation 'R4623:Pds5b'
ID 346322
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 041888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4623 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150724066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1214 (S1214R)
Ref Sequence ENSEMBL: ENSMUSP00000016569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect probably benign
Transcript: ENSMUST00000016569
AA Change: S1214R

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: S1214R

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: S1216R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: S1216R

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: 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: ENSMUST00000132947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201920
Predicted Effect probably benign
Transcript: ENSMUST00000202170
AA Change: S1216R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: S1216R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (88/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik T C 12: 11,272,141 (GRCm39) noncoding transcript Het
A930003A15Rik C T 16: 19,702,487 (GRCm39) noncoding transcript Het
Abca13 A G 11: 9,259,130 (GRCm39) Y2952C probably damaging Het
Actrt2 T C 4: 154,751,747 (GRCm39) T130A probably benign Het
Adamts7 T A 9: 90,068,515 (GRCm39) D475E probably benign Het
Adgrf5 A G 17: 43,761,874 (GRCm39) S1190G probably benign Het
Adgrg6 A T 10: 14,317,243 (GRCm39) C526S probably damaging Het
Aldoc T C 11: 78,215,947 (GRCm39) V151A probably damaging Het
Arsj A T 3: 126,158,445 (GRCm39) E8V probably benign Het
Asph T C 4: 9,622,005 (GRCm39) K167E possibly damaging Het
Auts2 G A 5: 131,469,221 (GRCm39) P475S probably benign Het
C1d A G 11: 17,212,742 (GRCm39) D29G possibly damaging Het
Calb1 T A 4: 15,895,721 (GRCm39) probably benign Het
Ceacam15 A T 7: 16,407,391 (GRCm39) F42Y probably damaging Het
Cpm A G 10: 117,506,202 (GRCm39) N188D possibly damaging Het
Cts6 A T 13: 61,349,974 (GRCm39) Y36N possibly damaging Het
Cux1 T C 5: 136,337,154 (GRCm39) K657R probably damaging Het
Cyp2a22 G T 7: 26,632,916 (GRCm39) P429T probably damaging Het
Dipk2a T C 9: 94,402,451 (GRCm39) N404D possibly damaging Het
Dock3 T C 9: 106,939,244 (GRCm39) E168G possibly damaging Het
Dot1l A G 10: 80,617,984 (GRCm39) N324S probably benign Het
Dusp13b A C 14: 21,793,546 (GRCm39) probably benign Het
Eif4g1 T A 16: 20,500,095 (GRCm39) probably benign Het
Fan1 G T 7: 64,023,301 (GRCm39) Y121* probably null Het
Foxn4 T C 5: 114,398,991 (GRCm39) E80G possibly damaging Het
Gal3st2c C A 1: 93,937,178 (GRCm39) H374Q possibly damaging Het
Gm973 A T 1: 59,595,435 (GRCm39) I409F probably damaging Het
Gpr18 T A 14: 122,149,579 (GRCm39) T149S probably damaging Het
Gsr A G 8: 34,170,333 (GRCm39) E206G probably damaging Het
Hal A G 10: 93,343,301 (GRCm39) H515R probably damaging Het
Heatr5b A G 17: 79,102,548 (GRCm39) S1277P possibly damaging Het
Hmcn2 A G 2: 31,286,722 (GRCm39) E2125G probably damaging Het
Ikzf4 A G 10: 128,476,988 (GRCm39) C108R probably damaging Het
Kcnh2 A G 5: 24,553,440 (GRCm39) V59A probably benign Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Kif11 A T 19: 37,398,195 (GRCm39) I674L probably benign Het
Lrp1b A T 2: 41,136,033 (GRCm39) C1646S probably damaging Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Mib1 C A 18: 10,808,086 (GRCm39) N944K probably benign Het
Mical3 C A 6: 120,938,586 (GRCm39) E262* probably null Het
Mms22l C T 4: 24,502,792 (GRCm39) Q55* probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrps11 T C 7: 78,441,689 (GRCm39) probably null Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ncapd2 A G 6: 125,150,572 (GRCm39) V843A probably benign Het
Nell1 A G 7: 49,770,310 (GRCm39) E123G possibly damaging Het
Nkd1 A G 8: 89,316,383 (GRCm39) D213G probably benign Het
Nlrp1b T C 11: 71,052,669 (GRCm39) T920A probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Or6c208 G A 10: 129,223,915 (GRCm39) V138M probably benign Het
Or8k40 T A 2: 86,584,906 (GRCm39) M59L possibly damaging Het
Pde8b C T 13: 95,178,447 (GRCm39) A566T possibly damaging Het
Pld1 T C 3: 28,083,393 (GRCm39) I171T probably benign Het
Plekha5 T A 6: 140,496,912 (GRCm39) V154E probably damaging Het
Plxna2 A T 1: 194,494,458 (GRCm39) I1892L probably benign Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Proc T A 18: 32,260,526 (GRCm39) T200S probably benign Het
Psap T G 10: 60,136,630 (GRCm39) C536W probably damaging Het
Ptger2 G A 14: 45,226,471 (GRCm39) R17H possibly damaging Het
Rab42 A G 4: 132,030,504 (GRCm39) F49L possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rdh10 G A 1: 16,201,287 (GRCm39) probably benign Het
Rnft2 T A 5: 118,370,471 (GRCm39) S244C probably damaging Het
Sftpc T C 14: 70,759,718 (GRCm39) probably null Het
Shcbp1 A C 8: 4,789,178 (GRCm39) V547G probably damaging Het
Slc6a13 T C 6: 121,302,104 (GRCm39) S229P probably damaging Het
Soat2 A T 15: 102,066,144 (GRCm39) probably benign Het
Swap70 A G 7: 109,867,079 (GRCm39) K294E probably benign Het
Tcim C A 8: 24,928,725 (GRCm39) R63L probably damaging Het
Tek G A 4: 94,751,898 (GRCm39) V1013I probably damaging Het
Tg T A 15: 66,607,120 (GRCm39) M219K probably benign Het
Tie1 A G 4: 118,343,808 (GRCm39) S45P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Tram1l1 T A 3: 124,115,509 (GRCm39) M223K possibly damaging Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Uspl1 T A 5: 149,151,405 (GRCm39) D669E probably damaging Het
Vav1 C A 17: 57,606,839 (GRCm39) probably null Het
Vcl A T 14: 21,065,007 (GRCm39) E634V probably benign Het
Zfp672 A T 11: 58,207,281 (GRCm39) C347S 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
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'- TAGGAGTTGCCAGTGTTCAG -3'
(R):5'- TCCAGGAGCTCCTCTTTGTG -3'

Sequencing Primer
(F):5'- GCCAGTGTTCAGAGTGCTAAC -3'
(R):5'- TGTGCCTCTTCTCCTCAGG -3'
Posted On 2015-09-25