Incidental Mutation 'R6495:Apbb1ip'
ID 520386
Institutional Source Beutler Lab
Gene Symbol Apbb1ip
Ensembl Gene ENSMUSG00000026786
Gene Name amyloid beta precursor protein binding family B member 1 interacting protein
Synonyms proline-rich protein 48, Prp48, 9930118P07Rik
MMRRC Submission 044627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6495 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22664106-22765665 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 22743132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 321 (Y321*)
Ref Sequence ENSEMBL: ENSMUSP00000014290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014290]
AlphaFold Q8R5A3
PDB Structure Crystal structure of the Ras-associating and pleckstrin-homology domains of RIAM [X-RAY DIFFRACTION]
Crystal structure of RIAM RA-PH domains in complex with GTP bound Rap1 [X-RAY DIFFRACTION]
Crystal structure of RIAM TBS1 in complex with talin R7R8 domains [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000014290
AA Change: Y321*
SMART Domains Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: Y321*

DomainStartEndE-ValueType
PDB:3ZDL|B 1 31 1e-11 PDB
low complexity region 32 39 N/A INTRINSIC
coiled coil region 62 88 N/A INTRINSIC
low complexity region 102 118 N/A INTRINSIC
RA 179 266 1.15e-22 SMART
low complexity region 280 299 N/A INTRINSIC
PH 314 424 2.05e-10 SMART
low complexity region 516 532 N/A INTRINSIC
low complexity region 553 570 N/A INTRINSIC
low complexity region 577 598 N/A INTRINSIC
low complexity region 622 636 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148315
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,740,148 (GRCm39) E502V probably damaging Het
Apob A G 12: 8,040,394 (GRCm39) K577R probably null Het
Arfgef3 A G 10: 18,486,950 (GRCm39) probably null Het
Asap3 T A 4: 135,955,790 (GRCm39) probably null Het
Atp13a5 C T 16: 29,140,440 (GRCm39) probably null Het
Bcan C A 3: 87,903,904 (GRCm39) A194S possibly damaging Het
Cacybp T C 1: 160,036,093 (GRCm39) T32A probably benign Het
Cd82 A G 2: 93,260,357 (GRCm39) V90A probably benign Het
Chd5 C T 4: 152,451,829 (GRCm39) R714C probably damaging Het
Cpb2 T C 14: 75,512,519 (GRCm39) Y311H probably damaging Het
Cyp39a1 T C 17: 44,002,585 (GRCm39) Y267H probably benign Het
Dnajc6 C T 4: 101,492,262 (GRCm39) Q766* probably null Het
Dusp3 T C 11: 101,872,653 (GRCm39) I48V probably benign Het
Eif3c A T 7: 126,146,672 (GRCm39) F809I probably damaging Het
Exosc10 C T 4: 148,647,329 (GRCm39) P213S probably benign Het
Galns C T 8: 123,327,349 (GRCm39) G141D probably damaging Het
Gm3233 A T 10: 77,594,886 (GRCm39) probably benign Het
Hadha A T 5: 30,325,048 (GRCm39) L714H probably benign Het
Map3k20 T C 2: 72,198,763 (GRCm39) M123T probably damaging Het
Nt5dc1 A G 10: 34,200,365 (GRCm39) L217P probably damaging Het
Nubp2 A T 17: 25,104,577 (GRCm39) D54E probably damaging Het
Onecut1 C T 9: 74,770,497 (GRCm39) R307C probably damaging Het
Or5b116 T A 19: 13,422,989 (GRCm39) D204E probably benign Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pkd2 T A 5: 104,637,159 (GRCm39) C591S probably damaging Het
Pramel15 T C 4: 144,103,409 (GRCm39) N239S probably benign Het
Pwp2 A T 10: 78,012,961 (GRCm39) V549E probably damaging Het
Rapsn A T 2: 90,866,973 (GRCm39) S92C probably damaging Het
Rbm19 A G 5: 120,257,745 (GRCm39) S90G probably damaging Het
Rfc1 G A 5: 65,431,158 (GRCm39) probably null Het
Rims2 T A 15: 39,381,208 (GRCm39) F1046L probably benign Het
S100a16 C T 3: 90,449,735 (GRCm39) R73C probably benign Het
Shroom3 T C 5: 93,089,928 (GRCm39) Y893H possibly damaging Het
Stt3b T A 9: 115,096,388 (GRCm39) Y253F possibly damaging Het
Taar8b A G 10: 23,967,160 (GRCm39) *345Q probably null Het
Tas2r119 G A 15: 32,177,676 (GRCm39) V81I probably benign Het
Tas2r129 A G 6: 132,928,128 (GRCm39) I22V probably benign Het
Tbc1d19 T G 5: 54,046,555 (GRCm39) probably null Het
Tnip3 A T 6: 65,582,846 (GRCm39) I218F probably benign Het
Tnks A T 8: 35,307,120 (GRCm39) probably null Het
Ttc29 T C 8: 79,008,963 (GRCm39) Y278H possibly damaging Het
Tut7 T C 13: 59,947,753 (GRCm39) E454G possibly damaging Het
Uba7 T A 9: 107,854,213 (GRCm39) C214* probably null Het
Vmn2r115 A T 17: 23,578,572 (GRCm39) I682F probably benign Het
Vmn2r75 A T 7: 85,813,287 (GRCm39) M505K probably benign Het
Wdr19 A T 5: 65,415,466 (GRCm39) T1313S probably benign Het
Zbtb22 A G 17: 34,136,224 (GRCm39) D123G probably damaging Het
Zdhhc7 A G 8: 120,813,395 (GRCm39) I138T probably benign Het
Zfp706 T C 15: 37,004,045 (GRCm39) K7R unknown Het
Zkscan3 G A 13: 21,572,075 (GRCm39) P519L probably damaging Het
Other mutations in Apbb1ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Apbb1ip APN 2 22,748,292 (GRCm39) missense possibly damaging 0.59
IGL01447:Apbb1ip APN 2 22,743,194 (GRCm39) missense probably damaging 1.00
IGL02987:Apbb1ip APN 2 22,757,649 (GRCm39) nonsense probably null
IGL03329:Apbb1ip APN 2 22,757,729 (GRCm39) missense possibly damaging 0.92
intelligence UTSW 2 22,725,943 (GRCm39) missense probably damaging 1.00
psyops UTSW 2 22,743,132 (GRCm39) nonsense probably null
Simulacrum UTSW 2 22,757,005 (GRCm39) critical splice donor site probably null
Tangles UTSW 2 22,713,610 (GRCm39) critical splice donor site probably null
R0374:Apbb1ip UTSW 2 22,709,717 (GRCm39) splice site probably benign
R0842:Apbb1ip UTSW 2 22,757,678 (GRCm39) missense possibly damaging 0.85
R1678:Apbb1ip UTSW 2 22,764,892 (GRCm39) splice site probably null
R3855:Apbb1ip UTSW 2 22,765,187 (GRCm39) missense unknown
R3971:Apbb1ip UTSW 2 22,713,506 (GRCm39) missense unknown
R4335:Apbb1ip UTSW 2 22,761,574 (GRCm39) critical splice donor site probably null
R4569:Apbb1ip UTSW 2 22,739,556 (GRCm39) missense probably damaging 1.00
R4742:Apbb1ip UTSW 2 22,716,928 (GRCm39) missense unknown
R4804:Apbb1ip UTSW 2 22,713,610 (GRCm39) critical splice donor site probably null
R4820:Apbb1ip UTSW 2 22,765,265 (GRCm39) missense unknown
R4854:Apbb1ip UTSW 2 22,743,214 (GRCm39) missense possibly damaging 0.94
R4899:Apbb1ip UTSW 2 22,713,361 (GRCm39) missense unknown
R4920:Apbb1ip UTSW 2 22,709,696 (GRCm39) missense unknown
R5283:Apbb1ip UTSW 2 22,757,683 (GRCm39) missense probably benign 0.16
R5445:Apbb1ip UTSW 2 22,725,960 (GRCm39) missense possibly damaging 0.90
R6346:Apbb1ip UTSW 2 22,757,005 (GRCm39) critical splice donor site probably null
R6542:Apbb1ip UTSW 2 22,764,972 (GRCm39) missense probably benign 0.04
R6550:Apbb1ip UTSW 2 22,748,245 (GRCm39) missense probably damaging 1.00
R7011:Apbb1ip UTSW 2 22,725,943 (GRCm39) missense probably damaging 1.00
R7304:Apbb1ip UTSW 2 22,743,147 (GRCm39) splice site probably null
R7554:Apbb1ip UTSW 2 22,713,558 (GRCm39) missense unknown
R7690:Apbb1ip UTSW 2 22,706,996 (GRCm39) missense unknown
R7723:Apbb1ip UTSW 2 22,761,574 (GRCm39) critical splice donor site probably null
R7831:Apbb1ip UTSW 2 22,756,933 (GRCm39) missense probably damaging 1.00
R7861:Apbb1ip UTSW 2 22,706,990 (GRCm39) missense unknown
R8270:Apbb1ip UTSW 2 22,765,004 (GRCm39) missense unknown
R8523:Apbb1ip UTSW 2 22,709,648 (GRCm39) missense unknown
R9158:Apbb1ip UTSW 2 22,764,951 (GRCm39) missense probably benign 0.01
R9696:Apbb1ip UTSW 2 22,725,989 (GRCm39) missense probably benign 0.11
X0014:Apbb1ip UTSW 2 22,713,566 (GRCm39) small deletion probably benign
Z1177:Apbb1ip UTSW 2 22,765,115 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTCCTCCCCATTGACAGACA -3'
(R):5'- TGATCTCCAAAATTGAGCCAAAATA -3'

Sequencing Primer
(F):5'- TTGACAGACAACATACAAAGCATGTG -3'
(R):5'- CTGCCATAACCTGAGAGTTAGCTG -3'
Posted On 2018-06-06