Incidental Mutation 'R4920:Apbb1ip'
ID 378499
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 042522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4920 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 22664106-22765665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22709696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
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 unknown
Transcript: ENSMUST00000014290
AA Change: D51G
SMART Domains Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: D51G

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: ENSMUST00000131195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148315
Meta Mutation Damage Score 0.4113 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency 96% (55/57)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A T 11: 114,089,871 (GRCm39) noncoding transcript Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Bmal1 A G 7: 112,884,321 (GRCm39) T120A probably damaging Het
Brca1 A T 11: 101,415,785 (GRCm39) V783D probably damaging Het
Ccdc141 T C 2: 76,998,907 (GRCm39) D58G probably damaging Het
Ccr9 G T 9: 123,608,504 (GRCm39) G62V probably damaging Het
Ces2b T C 8: 105,563,538 (GRCm39) Y422H probably benign Het
Cpa4 T C 6: 30,568,462 (GRCm39) probably null Het
Dennd3 A G 15: 73,412,574 (GRCm39) H412R probably benign Het
Dpy19l3 A T 7: 35,407,467 (GRCm39) probably benign Het
Dtwd2 G T 18: 49,831,507 (GRCm39) R167S possibly damaging Het
Dync1i2 G A 2: 71,077,668 (GRCm39) R243Q probably damaging Het
Ear2 G A 14: 44,340,582 (GRCm39) G80E probably damaging Het
Fam171b A G 2: 83,710,703 (GRCm39) K792E possibly damaging Het
Fam83b G A 9: 76,399,150 (GRCm39) T651I probably benign Het
Fcrl5 T G 3: 87,351,480 (GRCm39) F243V probably damaging Het
Galntl6 T C 8: 58,880,807 (GRCm39) I115M probably damaging Het
Glrx3 A G 7: 137,065,859 (GRCm39) D163G probably null Het
Gm14488 A T 2: 30,605,044 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,666,725 (GRCm39) S683P probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Gsdmd T C 15: 75,736,206 (GRCm39) S112P probably damaging Het
Ighv14-3 A G 12: 114,023,877 (GRCm39) V6A probably benign Het
Lca5l T A 16: 95,980,035 (GRCm39) S32C probably damaging Het
Lrba T A 3: 86,571,765 (GRCm39) Y260* probably null Het
Lyst T C 13: 13,821,645 (GRCm39) S1340P possibly damaging Het
Mfsd13a T G 19: 46,355,655 (GRCm39) F59V probably damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Noa1 T C 5: 77,454,334 (GRCm39) probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Pgm1 C T 4: 99,843,930 (GRCm39) T571M probably damaging Het
Pramel23 T C 4: 143,425,853 (GRCm39) D30G probably benign Het
Rfc1 C A 5: 65,445,271 (GRCm39) V460F probably damaging Het
Rrn3 A G 16: 13,608,503 (GRCm39) D182G probably benign Het
Sap25 T A 5: 137,640,507 (GRCm39) probably benign Het
Slc9a2 A G 1: 40,794,878 (GRCm39) I480V probably benign Het
Smo T C 6: 29,759,593 (GRCm39) S642P probably damaging Het
Tbc1d22a A C 15: 86,195,949 (GRCm39) I307L probably benign Het
Tent2 G A 13: 93,322,833 (GRCm39) Q39* probably null Het
Ubr3 A G 2: 69,783,212 (GRCm39) Q716R probably benign Het
Vmn2r96 A G 17: 18,802,918 (GRCm39) E276G probably benign Het
Zfp189 G A 4: 49,529,302 (GRCm39) C135Y 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
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
R6495:Apbb1ip UTSW 2 22,743,132 (GRCm39) nonsense 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'- TTTCGAGTAGCACAGTCTGTTTC -3'
(R):5'- CGGGTCTTCTCTTTCATCATAGGTG -3'

Sequencing Primer
(F):5'- CGAGTAGCACAGTCTGTTTCAAAAC -3'
(R):5'- AAGTCCACGTTTCCTTGG -3'
Posted On 2016-04-15