Incidental Mutation 'R7304:Apbb1ip'
ID 568715
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 045365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22664106-22765665 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 22743147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Polb T C 8: 23,129,975 (GRCm39) N199S probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprn2 T A 12: 117,212,164 (GRCm39) V862D probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vldlr T A 19: 27,216,004 (GRCm39) D305E possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Vwa3b T C 1: 37,203,586 (GRCm39) L55S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zbtb38 A G 9: 96,569,480 (GRCm39) S535P probably damaging Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S probably benign 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
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
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'- TGACAGACAACATACAAAGCATGTG -3'
(R):5'- GCTGATCTCCAAAATTGAGCCAA -3'

Sequencing Primer
(F):5'- GTGTACAATCTTTCCAACAGAACTGG -3'
(R):5'- CCTGGGGAAGACTATTTCTCTATCAG -3'
Posted On 2019-09-13