Incidental Mutation 'R4854:Apbb1ip'
ID 373763
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 042465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4854 (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 22743214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 349 (K349E)
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 possibly damaging
Transcript: ENSMUST00000014290
AA Change: K349E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: K349E

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 0.2368 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (103/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik T A 9: 22,119,333 (GRCm39) noncoding transcript Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abl1 T C 2: 31,669,022 (GRCm39) Y110H probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Agbl3 G A 6: 34,762,219 (GRCm39) R73Q probably damaging Het
Agl C T 3: 116,572,267 (GRCm39) probably null Het
Amotl1 G A 9: 14,504,747 (GRCm39) Q191* probably null Het
Arhgap10 G A 8: 78,146,718 (GRCm39) Q229* probably null Het
Aspm C T 1: 139,405,810 (GRCm39) Q1566* probably null Het
B3gnt3 G A 8: 72,145,517 (GRCm39) R284C probably damaging Het
Bltp3b T G 10: 89,630,346 (GRCm39) V382G probably damaging Het
Brd4 A G 17: 32,439,211 (GRCm39) V423A probably damaging Het
Btbd9 A T 17: 30,743,839 (GRCm39) I221N probably damaging Het
Camp A G 9: 109,676,519 (GRCm39) V168A probably benign Het
Cd1d2 T A 3: 86,896,556 (GRCm39) probably null Het
Cdkn2d A T 9: 21,202,223 (GRCm39) V8D probably benign Het
Cimap1a A G 7: 140,429,375 (GRCm39) Y168C probably damaging Het
Clec4g T C 8: 3,766,534 (GRCm39) N256D probably damaging Het
Clspn A G 4: 126,469,743 (GRCm39) I771V probably benign Het
Cntn6 A G 6: 104,836,436 (GRCm39) E862G possibly damaging Het
Col6a5 T C 9: 105,775,950 (GRCm39) T1702A probably benign Het
Dnah7a T C 1: 53,745,888 (GRCm39) probably benign Het
Dubr T C 16: 50,552,886 (GRCm39) noncoding transcript Het
Dusp26 G A 8: 31,584,165 (GRCm39) V91M probably damaging Het
Edc4 A T 8: 106,614,557 (GRCm39) probably benign Het
F5 C T 1: 164,019,715 (GRCm39) A730V probably damaging Het
Foxf1 A G 8: 121,813,553 (GRCm39) T358A probably benign Het
Frem1 A T 4: 82,834,995 (GRCm39) N1810K possibly damaging Het
Galc A T 12: 98,223,136 (GRCm39) F87I probably damaging Het
Gars1 A G 6: 55,023,403 (GRCm39) D66G probably damaging Het
Gbp11 G A 5: 105,473,374 (GRCm39) L460F probably damaging Het
Gdf7 T C 12: 8,348,014 (GRCm39) I436V probably damaging Het
Gigyf2 C T 1: 87,282,135 (GRCm39) probably benign Het
Gm12239 T C 11: 55,906,779 (GRCm39) noncoding transcript Het
Gm5592 A C 7: 40,866,895 (GRCm39) probably benign Het
Gp2 A T 7: 119,051,422 (GRCm39) D264E possibly damaging Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Grid1 A G 14: 35,043,598 (GRCm39) I318V probably benign Het
Grm2 C A 9: 106,531,331 (GRCm39) V53F possibly damaging Het
Gtpbp1 T C 15: 79,603,406 (GRCm39) S632P probably benign Het
H2-M1 A G 17: 36,980,950 (GRCm39) F329L probably benign Het
Hecw1 T A 13: 14,491,477 (GRCm39) D92V probably benign Het
Hgh1 T C 15: 76,253,382 (GRCm39) L76P probably damaging Het
Idi2 C A 13: 9,007,879 (GRCm39) N63K probably benign Het
Ift122 A G 6: 115,839,707 (GRCm39) T25A possibly damaging Het
Itgb2l A T 16: 96,227,317 (GRCm39) C575* probably null Het
Jup A G 11: 100,273,867 (GRCm39) S225P possibly damaging Het
Kcng3 A T 17: 83,895,735 (GRCm39) C244S probably damaging Het
Klhl2 T A 8: 65,287,111 (GRCm39) M46L possibly damaging Het
Ksr1 A T 11: 78,918,528 (GRCm39) I460N probably damaging Het
Lama3 T A 18: 12,544,599 (GRCm39) F314Y probably benign Het
Lbp T C 2: 158,169,438 (GRCm39) V421A possibly damaging Het
Lcp1 G A 14: 75,437,929 (GRCm39) G113D probably damaging Het
Lrp1b A T 2: 41,001,089 (GRCm39) L2045H probably damaging Het
Mbd2 G T 18: 70,701,806 (GRCm39) D107Y unknown Het
Ms4a14 C T 19: 11,287,733 (GRCm39) V96I possibly damaging Het
N4bp2l2 C T 5: 150,585,516 (GRCm39) E155K probably benign Het
Nbeal2 T G 9: 110,460,464 (GRCm39) H1790P probably damaging Het
Nsg2 G A 11: 31,981,806 (GRCm39) G84R probably benign Het
Or10ad1b A C 15: 98,125,425 (GRCm39) F34V possibly damaging Het
Or12e10 A G 2: 87,640,934 (GRCm39) T257A probably damaging Het
P2rx2 T C 5: 110,488,793 (GRCm39) N224D probably damaging Het
P2rx5 A T 11: 73,062,605 (GRCm39) E438V probably benign Het
Paip1 C A 13: 119,586,425 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,714,505 (GRCm39) V219E probably damaging Het
Ppp1r12b T C 1: 134,801,689 (GRCm39) E509G probably damaging Het
Ppp1r15a T C 7: 45,174,797 (GRCm39) S4G probably benign Het
Ppp5c T C 7: 16,742,947 (GRCm39) S224G probably benign Het
Prr30 T G 14: 101,435,879 (GRCm39) I228L probably benign Het
Purg A G 8: 33,877,342 (GRCm39) I327V possibly damaging Het
Ralb T C 1: 119,403,645 (GRCm39) T161A probably benign Het
Ripor3 T C 2: 167,834,733 (GRCm39) R253G probably benign Het
Scgb2b6 T C 7: 31,317,257 (GRCm39) noncoding transcript Het
Setd5 G T 6: 113,128,360 (GRCm39) G1438W probably damaging Het
Sh3rf3 T A 10: 58,649,545 (GRCm39) L50Q possibly damaging Het
Sipa1l2 G T 8: 126,200,340 (GRCm39) T662K probably damaging Het
Skint5 A G 4: 113,437,725 (GRCm39) L1021S unknown Het
Slc22a23 T C 13: 34,387,924 (GRCm39) S391G probably benign Het
Slc4a5 G A 6: 83,247,999 (GRCm39) V402I probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Spink5 A T 18: 44,153,908 (GRCm39) *1018C probably null Het
Stag3 T A 5: 138,294,956 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,569 (GRCm39) F410L probably damaging Het
Tmod1 A G 4: 46,090,920 (GRCm39) K158E possibly damaging Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Traf4 G A 11: 78,052,346 (GRCm39) Q100* probably null Het
Trpc4 A G 3: 54,209,639 (GRCm39) Y668C probably damaging Het
Ttn T A 2: 76,597,927 (GRCm39) N11335I possibly damaging Het
Usp39 A T 6: 72,302,665 (GRCm39) V463E probably benign Het
Vmn1r6 A C 6: 56,979,683 (GRCm39) Y115S probably benign Het
Vmn2r44 A G 7: 8,383,300 (GRCm39) I98T possibly damaging Het
Zfp462 A G 4: 55,010,668 (GRCm39) Y878C probably damaging Het
Zfp474 T C 18: 52,771,503 (GRCm39) I52T possibly 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
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
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'- CAGAATGTGTGTTTCATGCCTCTG -3'
(R):5'- GGCTGATCTCCAAAATTGAGCC -3'

Sequencing Primer
(F):5'- ATGCCTCTGGATTCTGCTTTCAGG -3'
(R):5'- CCTGGGGAAGACTATTTCTCTATCAG -3'
Posted On 2016-03-01