Incidental Mutation 'IGL01583:Ap2b1'
ID 91438
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01583
Quality Score
Status
Chromosome 11
Chromosomal Location 83189850-83295861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83215437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 127 (R127L)
Ref Sequence ENSEMBL: ENSMUSP00000134779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523] [ENSMUST00000176944]
AlphaFold Q9DBG3
Predicted Effect probably benign
Transcript: ENSMUST00000018875
AA Change: R127L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: R127L

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 benign
Transcript: ENSMUST00000065692
AA Change: R127L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: R127L

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 possibly damaging
Transcript: ENSMUST00000176430
AA Change: R127L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: R127L

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 probably benign
Transcript: ENSMUST00000176523
SMART Domains Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152

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
Predicted Effect probably benign
Transcript: ENSMUST00000176944
AA Change: R127L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: R127L

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 199 3.4e-67 PFAM
Pfam:DNA_alkylation 18 196 4.6e-8 PFAM
Pfam:HEAT_2 88 185 3.1e-13 PFAM
Pfam:Cnd1 99 198 4.2e-27 PFAM
Pfam:HEAT 122 151 1.4e-5 PFAM
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,126,753 (GRCm39) M329K possibly damaging Het
Abce1 G A 8: 80,420,076 (GRCm39) T300M probably damaging Het
Acap1 G A 11: 69,772,503 (GRCm39) S536L probably damaging Het
Adcy5 C A 16: 35,103,883 (GRCm39) probably benign Het
Asxl3 T G 18: 22,649,654 (GRCm39) S548A probably benign Het
Atm G A 9: 53,395,547 (GRCm39) probably benign Het
Cep250 T C 2: 155,818,069 (GRCm39) V807A probably damaging Het
Ces1g T A 8: 94,033,587 (GRCm39) Y445F probably damaging Het
Cnksr3 A G 10: 7,070,512 (GRCm39) Y241H probably benign Het
Col9a1 T C 1: 24,224,225 (GRCm39) S136P unknown Het
Cux2 C A 5: 122,012,170 (GRCm39) G422W probably damaging Het
Cyp1a2 A T 9: 57,589,655 (GRCm39) M53K probably benign Het
Ddx20 T C 3: 105,593,986 (GRCm39) D123G probably damaging Het
Dock4 T A 12: 40,860,466 (GRCm39) L1284* probably null Het
Dpp9 A C 17: 56,518,666 (GRCm39) L46R probably benign Het
Elavl1 A T 8: 4,351,699 (GRCm39) V139E probably damaging Het
Fndc3b T C 3: 27,483,144 (GRCm39) Y1018C probably damaging Het
Fubp1 A G 3: 151,921,261 (GRCm39) N78D possibly damaging Het
Fubp3 C T 2: 31,501,755 (GRCm39) probably benign Het
Gbx2 C A 1: 89,856,559 (GRCm39) R277L probably damaging Het
Gm128 T C 3: 95,148,094 (GRCm39) R67G possibly damaging Het
Gpc2 T A 5: 138,273,792 (GRCm39) R469W probably damaging Het
Ifi30 G A 8: 71,217,407 (GRCm39) probably benign Het
Kbtbd4 T C 2: 90,736,252 (GRCm39) S88P probably damaging Het
Kif23 A T 9: 61,842,750 (GRCm39) Y216N probably damaging Het
Lgals4 A G 7: 28,540,973 (GRCm39) D299G probably damaging Het
Lmx1b A G 2: 33,459,071 (GRCm39) S161P probably benign Het
Lrcol1 T A 5: 110,502,444 (GRCm39) S107T probably benign Het
Lrrc28 A T 7: 67,195,223 (GRCm39) probably null Het
Ncoa4 T C 14: 31,894,884 (GRCm39) V42A probably benign Het
Nkd2 C T 13: 73,969,599 (GRCm39) S277N probably benign Het
Nlrp2 A T 7: 5,340,769 (GRCm39) L15Q probably damaging Het
Nynrin T G 14: 56,107,968 (GRCm39) L1025R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5w1 G T 2: 87,486,757 (GRCm39) C169* probably null Het
Piwil4 A T 9: 14,645,783 (GRCm39) F152I probably damaging Het
Plod3 T C 5: 137,025,002 (GRCm39) S705P probably benign Het
Ppp2r2c T A 5: 37,026,166 (GRCm39) M1K probably null Het
Rgs19 T C 2: 181,331,246 (GRCm39) E129G probably damaging Het
Rpap2 T A 5: 107,768,061 (GRCm39) S223T probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc30a4 T C 2: 122,527,137 (GRCm39) I370V probably benign Het
Slco1b2 A G 6: 141,609,398 (GRCm39) I269M possibly damaging Het
Slco1c1 A G 6: 141,485,793 (GRCm39) Y142C probably damaging Het
Slco3a1 T C 7: 73,934,198 (GRCm39) N658S probably benign Het
Sos1 A T 17: 80,741,329 (GRCm39) S485R probably benign Het
Srpk1 A G 17: 28,825,291 (GRCm39) L127P probably damaging Het
St3gal6 T A 16: 58,314,033 (GRCm39) probably benign Het
Stk4 T A 2: 163,916,134 (GRCm39) M1K probably null Het
Tbc1d12 A G 19: 38,871,176 (GRCm39) E313G probably benign Het
Tbk1 A G 10: 121,393,134 (GRCm39) I472T probably benign Het
Tiam1 G A 16: 89,586,168 (GRCm39) R849W probably damaging Het
Tle3 A G 9: 61,317,307 (GRCm39) T381A probably benign Het
Tmem82 T G 4: 141,341,954 (GRCm39) T337P probably benign Het
Tmprss15 T C 16: 78,868,149 (GRCm39) T220A probably benign Het
Ung A G 5: 114,275,369 (GRCm39) K242E possibly damaging Het
Vmn1r211 A T 13: 23,036,571 (GRCm39) M32K probably benign Het
Vps13d T G 4: 144,771,658 (GRCm39) D956A probably damaging Het
Wdr64 T A 1: 175,594,722 (GRCm39) probably null Het
Other mutations in Ap2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Ap2b1 APN 11 83,223,984 (GRCm39) missense probably damaging 0.99
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
R5385:Ap2b1 UTSW 11 83,233,427 (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
Posted On 2013-12-09