Incidental Mutation 'R5669:Ppp1r13l'
ID 442510
Institutional Source Beutler Lab
Gene Symbol Ppp1r13l
Ensembl Gene ENSMUSG00000040734
Gene Name protein phosphatase 1, regulatory subunit 13 like
Synonyms NFkB interacting protein 1, IASPP, wa3
MMRRC Submission 043312-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R5669 (G1)
Quality Score 195
Status Not validated
Chromosome 7
Chromosomal Location 19093674-19112458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19106947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 481 (T481P)
Ref Sequence ENSEMBL: ENSMUSP00000047839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047621] [ENSMUST00000127785] [ENSMUST00000132655] [ENSMUST00000140836]
AlphaFold Q5I1X5
Predicted Effect probably benign
Transcript: ENSMUST00000047621
AA Change: T481P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: T481P

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
low complexity region 349 370 N/A INTRINSIC
low complexity region 401 440 N/A INTRINSIC
low complexity region 453 472 N/A INTRINSIC
low complexity region 551 561 N/A INTRINSIC
low complexity region 575 600 N/A INTRINSIC
low complexity region 616 632 N/A INTRINSIC
ANK 655 684 2.25e-3 SMART
ANK 688 717 1.31e-4 SMART
SH3 757 815 4.66e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127785
SMART Domains Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132655
SMART Domains Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140836
SMART Domains Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Akap9 T A 5: 4,100,540 (GRCm39) L2734* probably null Het
Aldh1a1 T C 19: 20,588,284 (GRCm39) I25T probably damaging Het
Astl G T 2: 127,189,199 (GRCm39) R175L probably damaging Het
BC035947 A T 1: 78,474,550 (GRCm39) C661S probably damaging Het
Cd160 C T 3: 96,716,214 (GRCm39) probably benign Het
Cdc42bpb C T 12: 111,268,447 (GRCm39) probably null Het
Cdip1 T A 16: 4,586,679 (GRCm39) I149F probably damaging Het
Cfap65 T C 1: 74,964,127 (GRCm39) Y607C probably damaging Het
Col6a5 A G 9: 105,803,197 (GRCm39) I1256T unknown Het
Copb1 A G 7: 113,836,820 (GRCm39) V336A probably damaging Het
Ddx42 A T 11: 106,132,645 (GRCm39) D556V probably damaging Het
Dlk1 T C 12: 109,425,964 (GRCm39) V279A probably benign Het
Fbll1 T C 11: 35,688,411 (GRCm39) N284S probably benign Het
Fbxw21 A T 9: 108,974,578 (GRCm39) I314N probably benign Het
Foxa3 T C 7: 18,748,176 (GRCm39) T317A probably benign Het
Gpr37 A T 6: 25,669,351 (GRCm39) C498S probably benign Het
Hapln3 G T 7: 78,767,244 (GRCm39) probably null Het
Igkv4-54 A G 6: 69,608,832 (GRCm39) V29A possibly damaging Het
Itgb8 T A 12: 119,154,363 (GRCm39) I225F probably damaging Het
Kcnk3 A G 5: 30,779,693 (GRCm39) T248A probably damaging Het
Kcnv1 T C 15: 44,977,648 (GRCm39) Q130R possibly damaging Het
Lrp1b T C 2: 41,001,050 (GRCm39) H2058R probably damaging Het
Macf1 T A 4: 123,370,018 (GRCm39) E1581V probably damaging Het
Mga A G 2: 119,733,907 (GRCm39) N252D probably damaging Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Or10ag53 T C 2: 87,082,785 (GRCm39) V168A probably benign Het
Or7e165 T C 9: 19,695,053 (GRCm39) F208S probably benign Het
Pak5 G A 2: 135,958,204 (GRCm39) P295S probably damaging Het
Pcsk1 T A 13: 75,278,221 (GRCm39) S595T probably benign Het
Pepd T C 7: 34,740,099 (GRCm39) V324A probably benign Het
Pml C T 9: 58,154,346 (GRCm39) D176N probably benign Het
Popdc3 T A 10: 45,192,529 (GRCm39) I163N probably damaging Het
Pramel13 T C 4: 144,122,413 (GRCm39) I44V probably benign Het
Prlh A G 1: 90,880,842 (GRCm39) T5A probably benign Het
Prom1 A G 5: 44,170,285 (GRCm39) F638S possibly damaging Het
Prpf8 T A 11: 75,395,564 (GRCm39) L1897H probably damaging Het
Ret T C 6: 118,161,204 (GRCm39) T91A probably benign Het
Retsat A G 6: 72,582,993 (GRCm39) S176G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,349,611 (GRCm39) L3823P possibly damaging Het
Rnf31 C T 14: 55,834,161 (GRCm39) A653V probably damaging Het
Rps6kl1 T C 12: 85,194,641 (GRCm39) D90G probably damaging Het
Scarb1 A G 5: 125,377,451 (GRCm39) Y194H probably damaging Het
Scube2 C T 7: 109,424,646 (GRCm39) A556T probably benign Het
Serpinb1a A G 13: 33,029,299 (GRCm39) L243P probably damaging Het
Slc39a4 A C 15: 76,498,363 (GRCm39) L358R probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Srgap1 C A 10: 121,640,755 (GRCm39) V681L probably benign Het
Tmprss6 A T 15: 78,339,156 (GRCm39) M262K possibly damaging Het
Ttf2 T A 3: 100,858,433 (GRCm39) K719* probably null Het
Vmn1r62 T A 7: 5,678,736 (GRCm39) L139* probably null Het
Zfp1004 A G 2: 150,034,098 (GRCm39) I140V probably benign Het
Other mutations in Ppp1r13l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Ppp1r13l APN 7 19,109,193 (GRCm39) missense probably damaging 1.00
IGL01800:Ppp1r13l APN 7 19,111,936 (GRCm39) unclassified probably benign
IGL02714:Ppp1r13l APN 7 19,111,568 (GRCm39) missense possibly damaging 0.93
IGL03251:Ppp1r13l APN 7 19,102,794 (GRCm39) splice site probably benign
R0507:Ppp1r13l UTSW 7 19,109,739 (GRCm39) missense possibly damaging 0.63
R1147:Ppp1r13l UTSW 7 19,109,772 (GRCm39) missense probably damaging 1.00
R1147:Ppp1r13l UTSW 7 19,109,772 (GRCm39) missense probably damaging 1.00
R1845:Ppp1r13l UTSW 7 19,102,536 (GRCm39) missense probably damaging 0.97
R1885:Ppp1r13l UTSW 7 19,111,496 (GRCm39) missense probably damaging 1.00
R1886:Ppp1r13l UTSW 7 19,111,496 (GRCm39) missense probably damaging 1.00
R2118:Ppp1r13l UTSW 7 19,105,346 (GRCm39) missense possibly damaging 0.89
R4063:Ppp1r13l UTSW 7 19,103,978 (GRCm39) missense probably benign
R4685:Ppp1r13l UTSW 7 19,109,308 (GRCm39) critical splice donor site probably null
R5121:Ppp1r13l UTSW 7 19,104,020 (GRCm39) missense probably damaging 1.00
R5604:Ppp1r13l UTSW 7 19,109,524 (GRCm39) missense possibly damaging 0.89
R5911:Ppp1r13l UTSW 7 19,109,817 (GRCm39) critical splice donor site probably null
R6002:Ppp1r13l UTSW 7 19,111,895 (GRCm39) missense probably benign 0.22
R6058:Ppp1r13l UTSW 7 19,104,500 (GRCm39) missense probably benign 0.01
R6170:Ppp1r13l UTSW 7 19,104,362 (GRCm39) missense probably benign 0.13
R6171:Ppp1r13l UTSW 7 19,111,436 (GRCm39) missense probably benign 0.06
R6246:Ppp1r13l UTSW 7 19,103,783 (GRCm39) missense probably benign 0.00
R6418:Ppp1r13l UTSW 7 19,105,256 (GRCm39) missense probably damaging 1.00
R6845:Ppp1r13l UTSW 7 19,105,323 (GRCm39) missense probably damaging 0.99
R7367:Ppp1r13l UTSW 7 19,104,081 (GRCm39) missense probably benign 0.36
R7381:Ppp1r13l UTSW 7 19,102,786 (GRCm39) critical splice donor site probably null
R7467:Ppp1r13l UTSW 7 19,105,305 (GRCm39) missense probably damaging 0.99
R7510:Ppp1r13l UTSW 7 19,102,726 (GRCm39) missense possibly damaging 0.52
R8185:Ppp1r13l UTSW 7 19,106,863 (GRCm39) missense probably benign 0.00
R8678:Ppp1r13l UTSW 7 19,109,697 (GRCm39) missense probably benign 0.24
R8757:Ppp1r13l UTSW 7 19,103,981 (GRCm39) missense probably damaging 1.00
R8759:Ppp1r13l UTSW 7 19,103,981 (GRCm39) missense probably damaging 1.00
R8853:Ppp1r13l UTSW 7 19,103,893 (GRCm39) missense probably benign 0.00
R8881:Ppp1r13l UTSW 7 19,105,194 (GRCm39) missense probably damaging 1.00
R8994:Ppp1r13l UTSW 7 19,102,695 (GRCm39) missense possibly damaging 0.90
R9741:Ppp1r13l UTSW 7 19,103,725 (GRCm39) missense probably damaging 1.00
RF015:Ppp1r13l UTSW 7 19,102,467 (GRCm39) critical splice acceptor site probably benign
RF022:Ppp1r13l UTSW 7 19,102,467 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- TAGCCACTCTGAGGTCACAG -3'
(R):5'- TGCCGATGGAAGAGTCTATTGATG -3'

Sequencing Primer
(F):5'- ACAGAGCCCTGAAGCTGGTTG -3'
(R):5'- CGATGGAAGAGTCTATTGATGATCTG -3'
Posted On 2016-11-09