Incidental Mutation 'R7051:Pds5b'
ID 547579
Institutional Source Beutler Lab
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
MMRRC Submission 045148-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7051 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150717747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1129 (N1129K)
Ref Sequence ENSEMBL: ENSMUSP00000144572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect possibly damaging
Transcript: ENSMUST00000016569
AA Change: N1129K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: N1129K

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: N1129K

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: N1129K

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
AA Change: N600K

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021
AA Change: N600K

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 possibly damaging
Transcript: ENSMUST00000202170
AA Change: N1129K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: N1129K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (80/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik C T 8: 33,919,201 (GRCm39) S7L unknown Het
Aggf1 T C 13: 95,488,125 (GRCm39) K674R possibly damaging Het
Ampd1 T C 3: 102,997,389 (GRCm39) F264L probably damaging Het
Ankle1 A T 8: 71,860,387 (GRCm39) S302C probably damaging Het
Ankrd17 G A 5: 90,514,310 (GRCm39) probably benign Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Atp5pb T C 3: 105,851,083 (GRCm39) N205D probably benign Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Atp8b3 C A 10: 80,365,552 (GRCm39) V401L probably damaging Het
Cacna1a G A 8: 85,356,544 (GRCm39) R1929Q possibly damaging Het
Cadm2 C T 16: 66,679,767 (GRCm39) S22N possibly damaging Het
Ccdc177 C T 12: 80,805,927 (GRCm39) V116M probably damaging Het
Cdhr18 A G 14: 13,828,486 (GRCm38) V758A Het
Cdkl2 A T 5: 92,181,084 (GRCm39) I185N probably damaging Het
Cfhr2 T A 1: 139,738,716 (GRCm39) I282L probably benign Het
Clns1a T A 7: 97,361,824 (GRCm39) probably null Het
Commd2 A T 3: 57,554,107 (GRCm39) I198N probably damaging Het
Creb3l2 C T 6: 37,313,200 (GRCm39) V365I possibly damaging Het
Dcaf6 A T 1: 165,251,886 (GRCm39) N79K possibly damaging Het
Dlg5 T C 14: 24,196,263 (GRCm39) N1622D possibly damaging Het
Dock7 C T 4: 98,834,969 (GRCm39) R1802H probably damaging Het
Dpy19l2 T C 9: 24,495,789 (GRCm39) K643R probably benign Het
Dscam G A 16: 96,620,986 (GRCm39) T574M probably benign Het
Fam209 A G 2: 172,315,969 (GRCm39) T115A probably damaging Het
Fastkd5 C T 2: 130,456,337 (GRCm39) C751Y probably damaging Het
Fat3 C A 9: 16,289,123 (GRCm39) L133F probably damaging Het
Fcsk A T 8: 111,616,971 (GRCm39) I393N probably damaging Het
Frmd6 T C 12: 70,944,170 (GRCm39) V516A possibly damaging Het
Fry G A 5: 150,318,634 (GRCm39) D955N possibly damaging Het
Gm7298 T C 6: 121,751,993 (GRCm39) probably null Het
Golga7b T A 19: 42,256,899 (GRCm39) *168R probably null Het
Golim4 T A 3: 75,800,309 (GRCm39) Q395L probably benign Het
Gxylt2 T A 6: 100,781,537 (GRCm39) L404* probably null Het
H1f4 A G 13: 23,806,422 (GRCm39) V20A probably benign Het
Ighmbp2 G T 19: 3,311,462 (GRCm39) S984R probably damaging Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Itga4 T C 2: 79,148,470 (GRCm39) V788A possibly damaging Het
Kifap3 G A 1: 163,621,649 (GRCm39) R99H probably damaging Het
Kiss1r T C 10: 79,754,688 (GRCm39) S61P probably damaging Het
Krtap6-1 A T 16: 88,828,606 (GRCm39) M1L unknown Het
Large2 A T 2: 92,197,367 (GRCm39) M411K probably damaging Het
Lcor A G 19: 41,574,191 (GRCm39) D982G probably benign Het
Lingo1 A G 9: 56,527,467 (GRCm39) V374A probably benign Het
Lrch1 A G 14: 75,022,962 (GRCm39) V637A probably damaging Het
Lyar T C 5: 38,382,024 (GRCm39) V2A probably damaging Het
Nell1 C T 7: 50,098,592 (GRCm39) S298L unknown Het
Ogfod3 T A 11: 121,086,031 (GRCm39) I188F probably damaging Het
Opa3 C A 7: 18,978,961 (GRCm39) A142E possibly damaging Het
Or5b123 T A 19: 13,596,769 (GRCm39) M81K possibly damaging Het
Or5k1 T C 16: 58,617,538 (GRCm39) T224A probably benign Het
Pald1 T C 10: 61,159,125 (GRCm39) R769G probably benign Het
Pappa2 T A 1: 158,784,753 (GRCm39) T86S unknown Het
Papss1 T C 3: 131,307,811 (GRCm39) Y266H probably damaging Het
Pcdhga7 C A 18: 37,849,994 (GRCm39) A667D probably damaging Het
Pcsk5 T A 19: 17,411,095 (GRCm39) T1766S probably benign Het
Pop7 T C 5: 137,499,952 (GRCm39) N127S probably damaging Het
Ppfibp2 A G 7: 107,316,925 (GRCm39) E300G probably damaging Het
Ppp4r3b A G 11: 29,132,507 (GRCm39) K87E probably damaging Het
Psmd3 T A 11: 98,573,659 (GRCm39) M35K possibly damaging Het
Pus7 A G 5: 23,980,677 (GRCm39) V191A probably damaging Het
Rptor C T 11: 119,765,012 (GRCm39) probably benign Het
Sacs A G 14: 61,446,377 (GRCm39) M2808V probably benign Het
Scube3 G A 17: 28,386,573 (GRCm39) V831I probably benign Het
Sin3a A T 9: 57,011,218 (GRCm39) N492Y probably damaging Het
Slc12a3 A G 8: 95,092,572 (GRCm39) T998A probably damaging Het
Slc4a1 T C 11: 102,247,084 (GRCm39) N501S probably benign Het
Sltm G A 9: 70,466,348 (GRCm39) G94R probably damaging Het
Smc4 T A 3: 68,934,835 (GRCm39) W650R probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Tcf20 T C 15: 82,740,279 (GRCm39) N391D probably damaging Het
Tiam2 G A 17: 3,498,758 (GRCm39) V845M probably damaging Het
Tln2 A G 9: 67,253,699 (GRCm39) F793L probably benign Het
Uckl1 T C 2: 181,216,037 (GRCm39) I193V probably damaging Het
Ugt1a5 A G 1: 88,094,077 (GRCm39) M102V probably benign Het
Usp38 G A 8: 81,727,750 (GRCm39) P328S possibly damaging Het
Vmn1r189 A G 13: 22,286,285 (GRCm39) V184A possibly damaging Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Wdr47 T A 3: 108,525,840 (GRCm39) L121Q probably damaging Het
Wiz A G 17: 32,580,507 (GRCm39) S315P probably damaging Het
Zc3h13 T C 14: 75,568,597 (GRCm39) S1297P probably damaging Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
R4623:Pds5b UTSW 5 150,724,066 (GRCm39) missense probably benign 0.37
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
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'- AAAACTCAGTTGCTCTGTTGTGTC -3'
(R):5'- CTTGCAGCCTTGTTGGAATC -3'

Sequencing Primer
(F):5'- CTGAAGCTCCCTTGCTAGGTAG -3'
(R):5'- TCAAATATAAACCATGACATCGCGTG -3'
Posted On 2019-05-13