Incidental Mutation 'R5385:Ap2b1'
ID 500966
Institutional Source Beutler Lab
Gene Symbol Ap2b1
Ensembl Gene ENSMUSG00000035152
Gene Name adaptor-related protein complex 2, beta 1 subunit
Synonyms 1300012O03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5385 (G1)
Quality Score 207
Status Not validated
Chromosome 11
Chromosomal Location 83189850-83295861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83233427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 480 (V480A)
Ref Sequence ENSEMBL: ENSMUSP00000070714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523]
AlphaFold Q9DBG3
Predicted Effect probably damaging
Transcript: ENSMUST00000018875
AA Change: V480A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: V480A

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 534 2.6e-173 PFAM
Pfam:HEAT_2 88 157 3.7e-8 PFAM
Pfam:Cnd1 99 268 2.1e-40 PFAM
Pfam:HEAT_2 124 219 1.4e-9 PFAM
low complexity region 625 643 N/A INTRINSIC
low complexity region 654 675 N/A INTRINSIC
Alpha_adaptinC2 721 831 2.94e-18 SMART
B2-adapt-app_C 840 950 9.93e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065692
AA Change: V480A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: V480A

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 534 4.2e-173 PFAM
Pfam:HEAT_2 88 157 2.7e-8 PFAM
Pfam:Cnd1 99 268 1.5e-37 PFAM
low complexity region 625 643 N/A INTRINSIC
low complexity region 653 665 N/A INTRINSIC
Alpha_adaptinC2 707 817 2.94e-18 SMART
B2-adapt-app_C 826 936 9.93e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132178
Predicted Effect probably damaging
Transcript: ENSMUST00000176430
AA Change: V480A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: V480A

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 534 4e-173 PFAM
Pfam:HEAT_2 88 157 2.8e-8 PFAM
Pfam:Cnd1 99 268 1.5e-37 PFAM
low complexity region 625 643 N/A INTRINSIC
low complexity region 654 675 N/A INTRINSIC
Alpha_adaptinC2 721 831 2.94e-18 SMART
B2-adapt-app_C 840 936 7.22e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176523
AA Change: V442A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: V442A

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 95 1.1e-26 PFAM
Pfam:Cnd1 69 230 1.5e-26 PFAM
Pfam:HEAT_2 85 182 5.1e-9 PFAM
Pfam:Adaptin_N 90 496 4e-125 PFAM
low complexity region 587 605 N/A INTRINSIC
low complexity region 616 637 N/A INTRINSIC
Alpha_adaptinC2 683 793 2.94e-18 SMART
B2-adapt-app_C 802 912 9.93e-56 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,421,446 (GRCm39) T175A probably benign Het
Adam23 A G 1: 63,590,970 (GRCm39) D479G possibly damaging Het
Adgrl3 T G 5: 81,874,648 (GRCm39) Y1050D probably damaging Het
Ago4 A G 4: 126,411,349 (GRCm39) I103T probably benign Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Alyref2 A G 1: 171,331,271 (GRCm39) N16S probably benign Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Arhgap30 A G 1: 171,235,848 (GRCm39) R741G probably benign Het
Canx A G 11: 50,192,639 (GRCm39) L325P probably damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cdc37l1 T G 19: 28,989,343 (GRCm39) S267A possibly damaging Het
Cert1 A G 13: 96,765,575 (GRCm39) T447A possibly damaging Het
Ces1f A T 8: 93,992,388 (GRCm39) C354* probably null Het
Cpne1 A T 2: 155,916,284 (GRCm39) V350D probably damaging Het
Ctdsp2 A G 10: 126,832,326 (GRCm39) T262A probably benign Het
Cypt4 A G 9: 24,536,596 (GRCm39) K29E possibly damaging Het
Dlg2 T C 7: 91,737,784 (GRCm39) V422A probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnah3 T A 7: 119,524,126 (GRCm39) K3953N probably damaging Het
Dnmt1 A G 9: 20,829,776 (GRCm39) V647A probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Ears2 G C 7: 121,643,600 (GRCm39) T426S probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat3 A T 9: 15,833,971 (GRCm39) L4207Q possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fer1l4 G A 2: 155,879,286 (GRCm39) Q906* probably null Het
Fpr2 C A 17: 18,113,309 (GRCm39) H102N probably benign Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gpr107 A G 2: 31,104,263 (GRCm39) T523A probably benign Het
Grin3a G A 4: 49,719,313 (GRCm39) P811L probably damaging Het
Hivep1 A T 13: 42,317,871 (GRCm39) probably null Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Hpse C T 5: 100,856,590 (GRCm39) W136* probably null Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ifnar2 T A 16: 91,201,086 (GRCm39) D442E possibly damaging Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kcnh4 T C 11: 100,643,076 (GRCm39) D397G probably damaging Het
Kcnj1 A G 9: 32,308,019 (GRCm39) R148G probably damaging Het
Lct T G 1: 128,239,354 (GRCm39) K277N possibly damaging Het
Loxl3 A G 6: 83,027,593 (GRCm39) M712V probably damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Marcks A G 10: 37,014,453 (GRCm39) S27P probably damaging Het
Mef2c A G 13: 83,810,532 (GRCm39) T347A probably benign Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Msc C A 1: 14,825,644 (GRCm39) R110L probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nop2 T C 6: 125,121,324 (GRCm39) V702A probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10v9 T A 19: 11,832,541 (GRCm39) I259F probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or1af1 G T 2: 37,109,599 (GRCm39) A33S possibly damaging Het
Or51e1 T C 7: 102,358,553 (GRCm39) L29P probably damaging Het
Or6c208 A G 10: 129,223,633 (GRCm39) I44V probably benign Het
Or6n2 A T 1: 173,897,036 (GRCm39) K57N probably benign Het
Or8a1b A T 9: 37,623,317 (GRCm39) V86E probably damaging Het
Or8c11 A T 9: 38,289,281 (GRCm39) I29F probably benign Het
Or8g2b A G 9: 39,751,126 (GRCm39) Y132C possibly damaging Het
Otub2 G A 12: 103,359,055 (GRCm39) probably benign Het
Pck2 A G 14: 55,782,688 (GRCm39) E339G probably damaging Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pdpk1 G A 17: 24,317,114 (GRCm39) Q250* probably null Het
Pigb T A 9: 72,946,827 (GRCm39) H16L probably benign Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plekhh2 T C 17: 84,864,894 (GRCm39) V94A probably benign Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Prex2 A G 1: 11,210,204 (GRCm39) D548G probably damaging Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Riox2 T A 16: 59,306,979 (GRCm39) M290K probably benign Het
Rnpepl1 T A 1: 92,844,914 (GRCm39) L402Q probably damaging Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sesn2 A G 4: 132,226,575 (GRCm39) I173T probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc13a5 T A 11: 72,149,903 (GRCm39) E159D probably benign Het
Slc16a7 A G 10: 125,130,473 (GRCm39) Y71H possibly damaging Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Slc4a7 T C 14: 14,773,345 (GRCm38) F772L possibly damaging Het
Snapc4 A G 2: 26,264,515 (GRCm39) S275P probably benign Het
Sorl1 T C 9: 41,968,580 (GRCm39) T558A possibly damaging Het
Sspo C T 6: 48,439,187 (GRCm39) P1612S probably benign Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tanc2 T A 11: 105,667,672 (GRCm39) D84E probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfip11 T C 5: 112,479,086 (GRCm39) probably null Het
Thtpa G T 14: 55,333,290 (GRCm39) R125L probably damaging Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tmcc3 A T 10: 94,415,015 (GRCm39) N239I probably damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Traf6 T A 2: 101,515,100 (GRCm39) C85* probably null Het
Trim68 T G 7: 102,327,990 (GRCm39) D321A probably damaging Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Ttbk1 T C 17: 46,758,558 (GRCm39) D692G probably benign Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ttc6 T A 12: 57,689,821 (GRCm39) probably null Het
Tut7 A T 13: 59,937,660 (GRCm39) probably null Het
Txnrd2 T G 16: 18,296,442 (GRCm39) I468S probably damaging Het
Ube2b A T 11: 51,879,471 (GRCm39) Y100N probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Uggt1 A G 1: 36,223,493 (GRCm39) Y599H probably damaging Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn2r1 T A 3: 64,008,819 (GRCm39) D499E possibly damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa3a A G 7: 120,389,365 (GRCm39) K68E possibly damaging Het
Zmiz1 A T 14: 25,650,237 (GRCm39) Y459F probably damaging Het
Other mutations in Ap2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Ap2b1 APN 11 83,223,984 (GRCm39) missense probably damaging 0.99
IGL01583:Ap2b1 APN 11 83,215,437 (GRCm39) missense possibly damaging 0.61
IGL01753:Ap2b1 APN 11 83,212,799 (GRCm39) missense probably damaging 1.00
IGL01992:Ap2b1 APN 11 83,226,356 (GRCm39) missense probably damaging 1.00
IGL02192:Ap2b1 APN 11 83,237,592 (GRCm39) missense possibly damaging 0.48
IGL02315:Ap2b1 APN 11 83,227,625 (GRCm39) missense probably damaging 0.96
IGL03235:Ap2b1 APN 11 83,232,210 (GRCm39) missense probably benign 0.41
P0045:Ap2b1 UTSW 11 83,258,852 (GRCm39) missense probably damaging 1.00
R0121:Ap2b1 UTSW 11 83,212,793 (GRCm39) missense possibly damaging 0.66
R0334:Ap2b1 UTSW 11 83,258,700 (GRCm39) splice site probably benign
R1222:Ap2b1 UTSW 11 83,237,564 (GRCm39) missense probably benign 0.06
R1297:Ap2b1 UTSW 11 83,223,935 (GRCm39) missense probably damaging 1.00
R1653:Ap2b1 UTSW 11 83,237,657 (GRCm39) missense probably damaging 1.00
R1719:Ap2b1 UTSW 11 83,215,430 (GRCm39) missense probably damaging 1.00
R1885:Ap2b1 UTSW 11 83,281,561 (GRCm39) missense probably damaging 0.99
R1886:Ap2b1 UTSW 11 83,281,561 (GRCm39) missense probably damaging 0.99
R1965:Ap2b1 UTSW 11 83,237,721 (GRCm39) missense probably benign 0.00
R1966:Ap2b1 UTSW 11 83,237,721 (GRCm39) missense probably benign 0.00
R2046:Ap2b1 UTSW 11 83,227,212 (GRCm39) missense probably benign 0.14
R2086:Ap2b1 UTSW 11 83,241,944 (GRCm39) missense possibly damaging 0.88
R2132:Ap2b1 UTSW 11 83,215,587 (GRCm39) splice site probably benign
R3615:Ap2b1 UTSW 11 83,215,391 (GRCm39) missense possibly damaging 0.84
R3616:Ap2b1 UTSW 11 83,215,391 (GRCm39) missense possibly damaging 0.84
R3983:Ap2b1 UTSW 11 83,281,542 (GRCm39) missense probably damaging 1.00
R4124:Ap2b1 UTSW 11 83,256,471 (GRCm39) critical splice acceptor site probably null
R4125:Ap2b1 UTSW 11 83,256,471 (GRCm39) critical splice acceptor site probably null
R4198:Ap2b1 UTSW 11 83,233,429 (GRCm39) missense probably damaging 1.00
R4202:Ap2b1 UTSW 11 83,226,430 (GRCm39) critical splice donor site probably null
R4543:Ap2b1 UTSW 11 83,215,476 (GRCm39) missense probably damaging 1.00
R4583:Ap2b1 UTSW 11 83,288,605 (GRCm39) missense probably benign 0.00
R4589:Ap2b1 UTSW 11 83,223,837 (GRCm39) nonsense probably null
R4916:Ap2b1 UTSW 11 83,281,532 (GRCm39) missense probably damaging 1.00
R5005:Ap2b1 UTSW 11 83,230,218 (GRCm39) missense probably damaging 1.00
R5510:Ap2b1 UTSW 11 83,227,563 (GRCm39) splice site probably null
R5738:Ap2b1 UTSW 11 83,227,256 (GRCm39) splice site probably null
R6023:Ap2b1 UTSW 11 83,226,224 (GRCm39) missense probably damaging 0.99
R6269:Ap2b1 UTSW 11 83,237,499 (GRCm39) missense probably damaging 1.00
R6383:Ap2b1 UTSW 11 83,237,651 (GRCm39) missense probably damaging 1.00
R6416:Ap2b1 UTSW 11 83,199,065 (GRCm39) start codon destroyed probably null 1.00
R6502:Ap2b1 UTSW 11 83,233,505 (GRCm39) missense probably damaging 0.97
R6810:Ap2b1 UTSW 11 83,226,317 (GRCm39) missense possibly damaging 0.89
R6969:Ap2b1 UTSW 11 83,280,552 (GRCm39) missense probably damaging 0.99
R7238:Ap2b1 UTSW 11 83,223,948 (GRCm39) missense possibly damaging 0.91
R7241:Ap2b1 UTSW 11 83,241,931 (GRCm39) missense probably benign 0.16
R7429:Ap2b1 UTSW 11 83,258,824 (GRCm39) missense probably benign 0.00
R7588:Ap2b1 UTSW 11 83,215,348 (GRCm39) missense probably benign 0.00
R7635:Ap2b1 UTSW 11 83,280,554 (GRCm39) missense probably benign 0.09
R7651:Ap2b1 UTSW 11 83,230,256 (GRCm39) critical splice donor site probably null
R7753:Ap2b1 UTSW 11 83,258,733 (GRCm39) nonsense probably null
R8468:Ap2b1 UTSW 11 83,241,891 (GRCm39) missense probably damaging 1.00
R8943:Ap2b1 UTSW 11 83,237,579 (GRCm39) missense probably damaging 1.00
R9093:Ap2b1 UTSW 11 83,215,395 (GRCm39) missense probably damaging 1.00
R9621:Ap2b1 UTSW 11 83,293,424 (GRCm39) missense probably damaging 1.00
X0064:Ap2b1 UTSW 11 83,215,395 (GRCm39) missense probably damaging 1.00
Z1177:Ap2b1 UTSW 11 83,256,579 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGTTGAAAATCTGGCCCAGAAAC -3'
(R):5'- CCCAGATGAACCTTCTTGGG -3'

Sequencing Primer
(F):5'- CACTTTTTATACCAAAAGAGCAACTG -3'
(R):5'- CCTCAATGGACTATGGTTCAGGAC -3'
Posted On 2017-12-01