Incidental Mutation 'R8023:Pds5a'
ID 617521
Institutional Source Beutler Lab
Gene Symbol Pds5a
Ensembl Gene ENSMUSG00000029202
Gene Name PDS5 cohesin associated factor A
Synonyms 9030416H16Rik, E230024D05Rik
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8023 (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 65795241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 665 (L665Q)
Ref Sequence ENSEMBL: ENSMUSP00000031104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000201948]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031104
AA Change: L665Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: L665Q

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 damaging
Transcript: ENSMUST00000201948
AA Change: L665Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: L665Q

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
H2ac20 A G 3: 96,128,106 (GRCm39) S19P unknown Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Il6ra A G 3: 89,820,260 (GRCm39) probably null Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Med24 A G 11: 98,609,321 (GRCm39) probably null Het
Mpz A G 1: 170,987,602 (GRCm39) D246G probably damaging Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Ndufs2 A T 1: 171,064,263 (GRCm39) M375K probably damaging Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null 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
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'- GGTCCGACTGCATCTATCCTAC -3'
(R):5'- ACGTACCCCTCAGGATTCTTG -3'

Sequencing Primer
(F):5'- GACTGCATCTATCCTACCTGTGATAG -3'
(R):5'- GTACCCCTCAGGATTCTTGTTAAAG -3'
Posted On 2020-01-23