Incidental Mutation 'R6513:Pds5a'
ID 519998
Institutional Source Beutler Lab
Gene Symbol Pds5a
Ensembl Gene ENSMUSG00000029202
Gene Name PDS5 cohesin associated factor A
Synonyms 9030416H16Rik, E230024D05Rik
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65763062-65855579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65772944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1220 (I1220F)
Ref Sequence ENSEMBL: ENSMUSP00000144171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000201948] [ENSMUST00000202648]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031104
AA Change: I1220F

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: I1220F

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: ENSMUST00000201673
Predicted Effect probably benign
Transcript: ENSMUST00000201948
AA Change: I1220F

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: I1220F

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: ENSMUST00000202446
Predicted Effect probably benign
Transcript: ENSMUST00000202648
SMART Domains Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202

DomainStartEndE-ValueType
low complexity region 58 74 N/A INTRINSIC
low complexity region 100 110 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign 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
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'- TTCAGATTTGGGGCGACGTC -3'
(R):5'- CTAACCCCTGCAAGTGGTTCTC -3'

Sequencing Primer
(F):5'- ATTTGGGGCGACGTCCTCTC -3'
(R):5'- GGTTCTCGACCTCTACGCAAG -3'
Posted On 2018-06-06