Incidental Mutation 'R2046:Ap2b1'
ID 221999
Institutional Source Beutler Lab
Gene Symbol Ap2b1
Ensembl Gene ENSMUSG00000035152
Gene Name adaptor-related protein complex 2, beta 1 subunit
Synonyms 1300012O03Rik
MMRRC Submission 040053-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2046 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83189850-83295861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83227212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 328 (Y328F)
Ref Sequence ENSEMBL: ENSMUSP00000070714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523] [ENSMUST00000176944]
AlphaFold Q9DBG3
Predicted Effect probably benign
Transcript: ENSMUST00000018875
AA Change: Y328F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: Y328F

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: Y328F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: Y328F

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 benign
Transcript: ENSMUST00000176430
AA Change: Y328F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: Y328F

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
AA Change: Y290F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: Y290F

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
SMART Domains Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152

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
Meta Mutation Damage Score 0.2569 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,553 (GRCm39) D84V probably damaging Het
Abcc5 A T 16: 20,218,567 (GRCm39) S272T possibly damaging Het
Adgre4 A G 17: 56,085,847 (GRCm39) N49D possibly damaging Het
Arhgef33 G C 17: 80,680,895 (GRCm39) E678D probably benign Het
Arid2 G A 15: 96,267,268 (GRCm39) V583I probably damaging Het
Bdkrb1 T A 12: 105,570,985 (GRCm39) S184T probably benign Het
Bend3 T C 10: 43,387,842 (GRCm39) F745S probably damaging Het
Card10 A T 15: 78,671,673 (GRCm39) V597E possibly damaging Het
Casp3 T A 8: 47,082,761 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,316,629 (GRCm39) V340A probably benign Het
Cdkl3 G T 11: 51,917,677 (GRCm39) V325L probably benign Het
Clec4n T A 6: 123,223,463 (GRCm39) N153K probably benign Het
Crtac1 C T 19: 42,322,492 (GRCm39) V83I probably damaging Het
Cul9 C A 17: 46,854,659 (GRCm39) L14F probably damaging Het
Dgka T C 10: 128,559,404 (GRCm39) Y519C probably damaging Het
Dhrs7 T G 12: 72,699,040 (GRCm39) K314T possibly damaging Het
Dnaaf9 T A 2: 130,652,837 (GRCm39) I42L possibly damaging Het
Dnah10 G T 5: 124,873,405 (GRCm39) K2542N probably benign Het
Dock5 A T 14: 68,049,591 (GRCm39) V731E probably benign Het
Dpy19l1 T A 9: 24,334,455 (GRCm39) H571L probably damaging Het
Dzip1 A T 14: 119,159,890 (GRCm39) I106N probably damaging Het
Eif2ak4 A T 2: 118,281,889 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,799 (GRCm39) Y70C probably damaging Het
Eps15 T C 4: 109,227,793 (GRCm39) F344S probably damaging Het
Erbb4 C T 1: 68,337,482 (GRCm39) R612Q probably benign Het
Fam83h T C 15: 75,874,787 (GRCm39) H850R probably benign Het
Fancg A G 4: 43,004,604 (GRCm39) C484R probably damaging Het
Fzd9 A G 5: 135,278,538 (GRCm39) I449T probably damaging Het
Gm10647 A G 9: 66,705,519 (GRCm39) probably benign Het
Iigp1c T A 18: 60,378,571 (GRCm39) H35Q probably benign Het
Itga11 C T 9: 62,634,979 (GRCm39) L86F probably damaging Het
Lamc2 C T 1: 153,017,511 (GRCm39) R492H probably benign Het
Marchf6 A G 15: 31,486,580 (GRCm39) V325A probably benign Het
Myo5b A T 18: 74,710,526 (GRCm39) I47F probably benign Het
Nek9 T A 12: 85,367,481 (GRCm39) probably benign Het
Nelfb T A 2: 25,096,323 (GRCm39) N262I probably damaging Het
Neurl4 A G 11: 69,799,523 (GRCm39) D942G probably damaging Het
Nipbl G A 15: 8,353,951 (GRCm39) P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 (GRCm39) T468A possibly damaging Het
Nrm G A 17: 36,175,109 (GRCm39) V146I probably benign Het
Or8h9 C A 2: 86,789,077 (GRCm39) A242S possibly damaging Het
Pitx3 T C 19: 46,125,618 (GRCm39) E42G possibly damaging Het
Pkd1l2 C T 8: 117,726,694 (GRCm39) A2271T probably damaging Het
Pofut2 A G 10: 77,096,428 (GRCm39) N51S probably damaging Het
Ppp1r3a T C 6: 14,722,103 (GRCm39) E273G probably benign Het
Psme4 A G 11: 30,767,723 (GRCm39) probably benign Het
Pus7l T C 15: 94,438,666 (GRCm39) I60V probably benign Het
Pygo2 T A 3: 89,340,455 (GRCm39) N284K possibly damaging Het
Ralgapa1 C T 12: 55,741,945 (GRCm39) C1368Y probably damaging Het
Rbm45 G A 2: 76,205,742 (GRCm39) G198E probably benign Het
Reln T C 5: 22,147,625 (GRCm39) I2442V probably benign Het
Rmi1 T C 13: 58,555,772 (GRCm39) V7A probably benign Het
Rsf1 T C 7: 97,310,884 (GRCm39) L538P probably benign Het
Rsph4a T G 10: 33,790,539 (GRCm39) probably benign Het
Sardh A T 2: 27,105,094 (GRCm39) D676E possibly damaging Het
Sh3tc2 A G 18: 62,123,914 (GRCm39) M892V probably benign Het
Slc38a11 A G 2: 65,188,529 (GRCm39) F80S probably damaging Het
Slc6a2 C A 8: 93,699,554 (GRCm39) S194* probably null Het
Slco2b1 A G 7: 99,339,686 (GRCm39) F86L probably damaging Het
Smc3 G A 19: 53,627,845 (GRCm39) D875N probably benign Het
Sp100 G A 1: 85,636,786 (GRCm39) E575K possibly damaging Het
Spns2 A G 11: 72,349,866 (GRCm39) L196P possibly damaging Het
Taf8 A G 17: 47,801,201 (GRCm39) S261P probably benign Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Ttn C A 2: 76,738,138 (GRCm39) V4134F probably benign Het
Ush2a A G 1: 188,089,124 (GRCm39) T360A probably benign Het
Usp28 T A 9: 48,950,375 (GRCm39) C935S probably damaging Het
Vps37d T A 5: 135,102,831 (GRCm39) M134L probably benign Het
Vwa2 T G 19: 56,894,010 (GRCm39) V329G probably benign Het
Zfp110 A G 7: 12,583,349 (GRCm39) R666G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTACGAGGGTTTTCCGCCTG -3'
(R):5'- GTGGCATATTCCTTCAGCTCCG -3'

Sequencing Primer
(F):5'- TTTTCCGCCTGAAGAGGGC -3'
(R):5'- CTTTGGAAGAGAACTGAGCCATCTC -3'
Posted On 2014-08-25