Incidental Mutation 'R1181:Pds5a'
ID 101560
Institutional Source Beutler Lab
Gene Symbol Pds5a
Ensembl Gene ENSMUSG00000029202
Gene Name PDS5 cohesin associated factor A
Synonyms 9030416H16Rik, E230024D05Rik
MMRRC Submission 039253-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1181 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65763062-65855579 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 65784545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000031104] [ENSMUST00000201948] [ENSMUST00000201948]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031104
SMART Domains Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202

DomainStartEndE-ValueType
SCOP:d1gw5a_ 253 782 6e-30 SMART
low complexity region 934 946 N/A INTRINSIC
low complexity region 1174 1190 N/A INTRINSIC
low complexity region 1258 1276 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000031104
SMART Domains Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202

DomainStartEndE-ValueType
SCOP:d1gw5a_ 253 782 6e-30 SMART
low complexity region 934 946 N/A INTRINSIC
low complexity region 1174 1190 N/A INTRINSIC
low complexity region 1258 1276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201770
Predicted Effect probably null
Transcript: ENSMUST00000201948
SMART Domains Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202

DomainStartEndE-ValueType
SCOP:d1gw5a_ 253 782 6e-30 SMART
low complexity region 934 946 N/A INTRINSIC
low complexity region 1174 1190 N/A INTRINSIC
low complexity region 1258 1276 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000201948
SMART Domains Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202

DomainStartEndE-ValueType
SCOP:d1gw5a_ 253 782 6e-30 SMART
low complexity region 934 946 N/A INTRINSIC
low complexity region 1174 1190 N/A INTRINSIC
low complexity region 1258 1276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202910
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.9%
  • 10x: 93.9%
  • 20x: 84.2%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T A 19: 4,922,638 (GRCm39) Q64L probably benign Het
Ankrd12 T C 17: 66,349,569 (GRCm39) N88S probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Bnipl C A 3: 95,152,960 (GRCm39) probably null Het
Bod1 T C 11: 31,616,943 (GRCm39) probably benign Het
Cbarp G T 10: 79,971,328 (GRCm39) H166N probably damaging Het
Cdr2l T A 11: 115,285,005 (GRCm39) I447N probably damaging Het
Cped1 T G 6: 22,215,561 (GRCm39) I698M probably damaging Het
Ecm1 G A 3: 95,642,662 (GRCm39) H404Y possibly damaging Het
Ehbp1 C T 11: 22,012,831 (GRCm39) V902I probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fastk C T 5: 24,646,729 (GRCm39) probably null Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgf G C 5: 16,823,923 (GRCm39) G707R probably damaging Het
Klhl5 T C 5: 65,320,228 (GRCm39) M594T probably damaging Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mettl14 C T 3: 123,167,651 (GRCm39) G236S probably damaging Het
Nob1 G A 8: 108,148,122 (GRCm39) P107S probably damaging Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or2a56 T A 6: 42,932,492 (GRCm39) L20Q probably benign Het
Or52e7 T A 7: 104,685,021 (GRCm39) N205K probably damaging Het
Or52n4b C A 7: 108,144,509 (GRCm39) T257N probably benign Het
Or5b109 C A 19: 13,212,195 (GRCm39) H194N probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or6c65 A G 10: 129,604,033 (GRCm39) I223V probably benign Het
Pald1 A G 10: 61,183,366 (GRCm39) probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Serinc3 T C 2: 163,467,446 (GRCm39) K445R probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slfn8 T C 11: 82,907,571 (GRCm39) E324G probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tas2r121 A T 6: 132,677,132 (GRCm39) I280N probably damaging Het
Tbc1d7 T C 13: 43,306,615 (GRCm39) I242M probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Tulp3 A T 6: 128,302,915 (GRCm39) H301Q possibly damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Zfp454 T C 11: 50,764,413 (GRCm39) K229E probably damaging Het
Other mutations in Pds5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Pds5a APN 5 65,813,687 (GRCm39) missense probably damaging 1.00
IGL00979:Pds5a APN 5 65,789,066 (GRCm39) missense probably benign 0.22
IGL01314:Pds5a APN 5 65,772,637 (GRCm39) missense probably benign
IGL02449:Pds5a APN 5 65,776,353 (GRCm39) missense probably damaging 1.00
IGL02539:Pds5a APN 5 65,823,462 (GRCm39) missense probably damaging 1.00
IGL03395:Pds5a APN 5 65,809,792 (GRCm39) missense possibly damaging 0.61
R0569:Pds5a UTSW 5 65,813,744 (GRCm39) missense probably damaging 1.00
R0704:Pds5a UTSW 5 65,777,928 (GRCm39) missense probably damaging 1.00
R1170:Pds5a UTSW 5 65,792,645 (GRCm39) splice site probably benign
R1193:Pds5a UTSW 5 65,795,145 (GRCm39) missense probably damaging 1.00
R1537:Pds5a UTSW 5 65,804,464 (GRCm39) missense probably benign 0.09
R1853:Pds5a UTSW 5 65,781,372 (GRCm39) missense possibly damaging 0.56
R2016:Pds5a UTSW 5 65,805,350 (GRCm39) critical splice acceptor site probably null
R2154:Pds5a UTSW 5 65,807,841 (GRCm39) missense probably damaging 1.00
R2209:Pds5a UTSW 5 65,785,357 (GRCm39) nonsense probably null
R2234:Pds5a UTSW 5 65,811,441 (GRCm39) missense probably damaging 1.00
R2235:Pds5a UTSW 5 65,811,441 (GRCm39) missense probably damaging 1.00
R2332:Pds5a UTSW 5 65,784,422 (GRCm39) splice site probably null
R3114:Pds5a UTSW 5 65,776,328 (GRCm39) missense probably damaging 1.00
R3417:Pds5a UTSW 5 65,795,235 (GRCm39) missense probably damaging 0.99
R3820:Pds5a UTSW 5 65,811,419 (GRCm39) missense possibly damaging 0.94
R4152:Pds5a UTSW 5 65,823,514 (GRCm39) nonsense probably null
R4159:Pds5a UTSW 5 65,821,839 (GRCm39) missense possibly damaging 0.75
R4160:Pds5a UTSW 5 65,821,839 (GRCm39) missense possibly damaging 0.75
R4161:Pds5a UTSW 5 65,821,839 (GRCm39) missense possibly damaging 0.75
R4230:Pds5a UTSW 5 65,787,329 (GRCm39) missense possibly damaging 0.85
R4491:Pds5a UTSW 5 65,792,780 (GRCm39) missense probably benign
R4647:Pds5a UTSW 5 65,813,661 (GRCm39) missense probably damaging 1.00
R4816:Pds5a UTSW 5 65,808,632 (GRCm39) missense probably damaging 1.00
R4867:Pds5a UTSW 5 65,801,463 (GRCm39) missense probably damaging 1.00
R5001:Pds5a UTSW 5 65,854,128 (GRCm39) missense probably damaging 0.99
R5013:Pds5a UTSW 5 65,792,680 (GRCm39) missense probably benign 0.05
R5054:Pds5a UTSW 5 65,795,157 (GRCm39) missense probably damaging 1.00
R5068:Pds5a UTSW 5 65,772,615 (GRCm39) missense probably damaging 0.99
R5178:Pds5a UTSW 5 65,821,218 (GRCm39) missense probably damaging 1.00
R5269:Pds5a UTSW 5 65,821,271 (GRCm39) missense probably damaging 1.00
R5396:Pds5a UTSW 5 65,795,920 (GRCm39) missense probably benign 0.09
R5704:Pds5a UTSW 5 65,784,422 (GRCm39) splice site probably null
R5940:Pds5a UTSW 5 65,801,328 (GRCm39) intron probably benign
R6306:Pds5a UTSW 5 65,813,639 (GRCm39) missense probably damaging 1.00
R6322:Pds5a UTSW 5 65,854,177 (GRCm39) missense probably benign 0.00
R6467:Pds5a UTSW 5 65,809,782 (GRCm39) missense probably damaging 1.00
R6476:Pds5a UTSW 5 65,791,630 (GRCm39) missense possibly damaging 0.94
R6513:Pds5a UTSW 5 65,772,944 (GRCm39) missense probably benign 0.18
R7304:Pds5a UTSW 5 65,777,077 (GRCm39) missense probably damaging 1.00
R7312:Pds5a UTSW 5 65,823,570 (GRCm39) missense possibly damaging 0.81
R7438:Pds5a UTSW 5 65,809,878 (GRCm39) critical splice acceptor site probably null
R7637:Pds5a UTSW 5 65,795,947 (GRCm39) missense probably benign 0.12
R7654:Pds5a UTSW 5 65,776,324 (GRCm39) missense probably damaging 1.00
R7707:Pds5a UTSW 5 65,767,476 (GRCm39) missense unknown
R7715:Pds5a UTSW 5 65,795,904 (GRCm39) missense possibly damaging 0.96
R7748:Pds5a UTSW 5 65,777,009 (GRCm39) missense possibly damaging 0.93
R7910:Pds5a UTSW 5 65,795,925 (GRCm39) missense possibly damaging 0.85
R8014:Pds5a UTSW 5 65,785,082 (GRCm39) missense possibly damaging 0.56
R8023:Pds5a UTSW 5 65,795,241 (GRCm39) missense probably damaging 1.00
R8070:Pds5a UTSW 5 65,809,741 (GRCm39) missense possibly damaging 0.92
R8190:Pds5a UTSW 5 65,781,341 (GRCm39) missense probably damaging 1.00
R8406:Pds5a UTSW 5 65,803,681 (GRCm39) missense probably benign 0.02
R9074:Pds5a UTSW 5 65,804,479 (GRCm39) missense possibly damaging 0.86
R9222:Pds5a UTSW 5 65,805,281 (GRCm39) missense probably benign 0.42
R9390:Pds5a UTSW 5 65,823,600 (GRCm39) missense probably benign 0.39
R9404:Pds5a UTSW 5 65,776,307 (GRCm39) missense probably damaging 0.99
R9479:Pds5a UTSW 5 65,792,747 (GRCm39) missense probably damaging 1.00
R9493:Pds5a UTSW 5 65,792,747 (GRCm39) missense probably damaging 1.00
R9596:Pds5a UTSW 5 65,772,830 (GRCm39) missense probably benign 0.01
R9681:Pds5a UTSW 5 65,808,587 (GRCm39) missense probably damaging 1.00
R9688:Pds5a UTSW 5 65,812,196 (GRCm39) missense probably benign 0.44
R9792:Pds5a UTSW 5 65,795,989 (GRCm39) missense probably benign
Z1088:Pds5a UTSW 5 65,776,329 (GRCm39) missense probably damaging 1.00
Z1176:Pds5a UTSW 5 65,817,070 (GRCm39) missense possibly damaging 0.75
Z1177:Pds5a UTSW 5 65,808,555 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CACAGAAGTGGCTCAATGTTTAAGGGAA -3'
(R):5'- TCCGCAGGGAGTACATCAAACAGAA -3'

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- TCACAGTGTGTCTCACAGAG -3'
Posted On 2014-01-15