Incidental Mutation 'R9688:Pds5a'
ID 728970
Institutional Source Beutler Lab
Gene Symbol Pds5a
Ensembl Gene ENSMUSG00000029202
Gene Name PDS5 cohesin associated factor A
Synonyms 9030416H16Rik, E230024D05Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9688 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65763062-65855579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65812196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 309 (F309I)
Ref Sequence ENSEMBL: ENSMUSP00000031104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000201948]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031104
AA Change: F309I

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: F309I

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 benign
Transcript: ENSMUST00000201948
AA Change: F309I

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: F309I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A G 11: 23,469,067 (GRCm39) probably null Het
Abca2 G C 2: 25,324,459 (GRCm39) A272P possibly damaging Het
Adarb1 T A 10: 77,147,099 (GRCm39) D479V probably damaging Het
Amz2 T C 11: 109,320,765 (GRCm39) F162S probably damaging Het
Ano4 A T 10: 89,180,506 (GRCm39) M1K probably null Het
Antxr1 G A 6: 87,114,334 (GRCm39) R478C probably damaging Het
Apobr T C 7: 126,186,663 (GRCm39) S725P probably benign Het
Arap2 A T 5: 62,872,109 (GRCm39) D506E probably damaging Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Camk1g T A 1: 193,031,029 (GRCm39) R305W probably damaging Het
Ces2g A T 8: 105,691,304 (GRCm39) I147F probably benign Het
Cfap61 T C 2: 145,878,758 (GRCm39) F505L probably damaging Het
Cndp1 G C 18: 84,655,982 (GRCm39) N62K probably benign Het
Cog6 G T 3: 52,916,528 (GRCm39) Q214K probably benign Het
Depdc5 T A 5: 33,055,276 (GRCm39) Y226* probably null Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Ercc6 A C 14: 32,297,755 (GRCm39) H1334P probably benign Het
Ern1 T C 11: 106,349,836 (GRCm39) T27A possibly damaging Het
Esf1 A T 2: 140,010,095 (GRCm39) D80E probably damaging Het
Evpl T C 11: 116,124,986 (GRCm39) K159E probably damaging Het
Gbx1 T C 5: 24,731,510 (GRCm39) Y102C probably damaging Het
Gjd2 A G 2: 113,842,109 (GRCm39) S123P probably benign Het
H2-M11 A G 17: 36,859,054 (GRCm39) Y198C probably damaging Het
Hps1 A C 19: 42,755,147 (GRCm39) V265G probably benign Het
Ifna16 C A 4: 88,594,874 (GRCm39) E74* probably null Het
Inca1 C T 11: 70,579,810 (GRCm39) probably null Het
Jag2 A G 12: 112,872,564 (GRCm39) V1230A probably benign Het
Jam3 G A 9: 27,010,204 (GRCm39) T260M probably benign Het
Klhl5 A T 5: 65,321,930 (GRCm39) D652V probably damaging Het
L3mbtl1 A T 2: 162,790,697 (GRCm39) I81L possibly damaging Het
Lgalsl C T 11: 20,779,442 (GRCm39) A68T probably benign Het
Map3k14 T A 11: 103,130,059 (GRCm39) D286V possibly damaging Het
Mdn1 A G 4: 32,745,590 (GRCm39) I4083V probably damaging Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Mtcl3 T C 10: 29,072,691 (GRCm39) V661A possibly damaging Het
Naa16 A T 14: 79,573,309 (GRCm39) Y820* probably null Het
Nbea G T 3: 55,557,165 (GRCm39) N2537K probably benign Het
Ncapd3 A G 9: 26,967,349 (GRCm39) S562G probably benign Het
Or5t5 A C 2: 86,617,005 (GRCm39) K310N probably damaging Het
Or6c1b C A 10: 129,272,967 (GRCm39) C95* probably null Het
Pcdhac2 A G 18: 37,277,628 (GRCm39) S203G probably benign Het
Pdzd8 G A 19: 59,333,683 (GRCm39) L113F probably benign Het
Pex12 T C 11: 83,189,257 (GRCm39) Y4C possibly damaging Het
Ppfibp2 A G 7: 107,318,448 (GRCm39) D332G probably benign Het
Psg23 A T 7: 18,344,547 (GRCm39) W303R probably damaging Het
Pyy T A 11: 101,998,099 (GRCm39) D27V probably damaging Het
Rc3h1 A G 1: 160,770,234 (GRCm39) Q302R probably damaging Het
Rhoh A G 5: 66,049,656 (GRCm39) probably benign Het
Samd9l A G 6: 3,377,087 (GRCm39) M58T probably damaging Het
Scaf11 A C 15: 96,313,808 (GRCm39) H1324Q probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Setx A T 2: 29,036,328 (GRCm39) S938C probably damaging Het
Sgo2a A T 1: 58,056,737 (GRCm39) T974S probably damaging Het
Sh3rf1 T C 8: 61,679,348 (GRCm39) V130A probably benign Het
Slc43a2 T C 11: 75,434,112 (GRCm39) F97L probably damaging Het
Slc9a9 C A 9: 95,111,107 (GRCm39) Q642K probably benign Het
Sox6 G T 7: 115,076,225 (GRCm39) D804E probably benign Het
Tbx15 A T 3: 99,233,708 (GRCm39) R290S possibly damaging Het
Tent4a A G 13: 69,655,199 (GRCm39) L425P probably damaging Het
Terf2 A G 8: 107,821,543 (GRCm39) S176P probably damaging Het
Ttc6 A T 12: 57,720,602 (GRCm39) H956L possibly damaging Het
Tti2 T C 8: 31,644,279 (GRCm39) V292A probably damaging Het
Vmn1r29 A T 6: 58,284,739 (GRCm39) E153V probably benign Het
Vmn1r55 G T 7: 5,149,669 (GRCm39) H251Q probably benign Het
Yeats4 T C 10: 117,051,586 (GRCm39) T224A probably benign Het
Yipf4 T A 17: 74,806,078 (GRCm39) F239Y probably benign Het
Zan T C 5: 137,466,717 (GRCm39) D380G probably damaging Het
Zbtb9 T C 17: 27,193,894 (GRCm39) F433S probably damaging Het
Zic5 T C 14: 122,701,435 (GRCm39) K432R unknown 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
R1181:Pds5a UTSW 5 65,784,545 (GRCm39) splice site probably null
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
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'- CAGATGTCAGCAAAGCCAATTAAG -3'
(R):5'- GCCAGGTGATCTAACATGAAATC -3'

Sequencing Primer
(F):5'- TTGGTATGGGTAGCAAAGCC -3'
(R):5'- ATGAAATCAGAAAAACATTTCCACAG -3'
Posted On 2022-10-06