Incidental Mutation 'R6416:Ap2b1'
ID 517950
Institutional Source Beutler Lab
Gene Symbol Ap2b1
Ensembl Gene ENSMUSG00000035152
Gene Name adaptor-related protein complex 2, beta 1 subunit
Synonyms 1300012O03Rik
MMRRC Submission 044558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6416 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 83299024-83405035 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 83308239 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000070714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000142680] [ENSMUST00000176430] [ENSMUST00000176523] [ENSMUST00000176944]
AlphaFold Q9DBG3
Predicted Effect probably null
Transcript: ENSMUST00000018875
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: M1K

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 null
Transcript: ENSMUST00000065692
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: M1K

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 null
Transcript: ENSMUST00000142680
AA Change: M1K
Predicted Effect probably null
Transcript: ENSMUST00000176430
AA Change: M1K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: M1K

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 null
Transcript: ENSMUST00000176523
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: M1K

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 null
Transcript: ENSMUST00000176944
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: M1K

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
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,707,891 (GRCm38) R6L unknown Het
Anxa11 A G 14: 25,874,270 (GRCm38) Q235R possibly damaging Het
Atl2 G A 17: 79,850,223 (GRCm38) T563I probably benign Het
Azin1 A T 15: 38,492,343 (GRCm38) S307R possibly damaging Het
Ccdc153 A G 9: 44,245,780 (GRCm38) T118A probably benign Het
Chac1 G A 2: 119,353,534 (GRCm38) V206I probably damaging Het
Chrm3 A G 13: 9,877,662 (GRCm38) V446A probably benign Het
Cped1 T C 6: 22,123,649 (GRCm38) F467S probably damaging Het
Csmd3 G A 15: 48,673,560 (GRCm38) P82L probably damaging Het
Ddx60 C T 8: 61,998,681 (GRCm38) H1202Y probably benign Het
Ddx60 T A 8: 61,977,950 (GRCm38) S840T probably benign Het
Dnah8 T A 17: 30,765,635 (GRCm38) N3102K probably benign Het
Dst A T 1: 34,116,128 (GRCm38) K85M probably damaging Het
Ehbp1l1 T C 19: 5,718,757 (GRCm38) I839M probably benign Het
Fam184b T A 5: 45,537,653 (GRCm38) M750L probably benign Het
Frem2 T C 3: 53,572,378 (GRCm38) T1965A probably benign Het
Ftl1 A T 7: 45,459,210 (GRCm38) D41E probably benign Het
Garem2 G A 5: 30,116,737 (GRCm38) W698* probably null Het
Glt8d2 T C 10: 82,652,906 (GRCm38) Y283C probably damaging Het
Hars T C 18: 36,773,590 (GRCm38) E109G possibly damaging Het
Hspb9 T C 11: 100,714,210 (GRCm38) S121P probably damaging Het
Hus1b A T 13: 30,947,205 (GRCm38) L157Q probably damaging Het
Hykk A G 9: 54,946,359 (GRCm38) M322V probably benign Het
Igkv4-61 C A 6: 69,417,154 (GRCm38) A31S possibly damaging Het
Il17f T A 1: 20,777,907 (GRCm38) M116L probably benign Het
Kif22 T C 7: 127,028,932 (GRCm38) K9E possibly damaging Het
Krt90 T C 15: 101,559,244 (GRCm38) E233G probably benign Het
Lipg T C 18: 74,957,236 (GRCm38) M81V probably benign Het
Mocos C T 18: 24,701,456 (GRCm38) S850L probably damaging Het
Mug2 T A 6: 122,082,754 (GRCm38) S1364T probably damaging Het
Neb A T 2: 52,185,328 (GRCm38) N208K probably benign Het
Oca2 G T 7: 56,328,767 (GRCm38) R561L probably benign Het
Olfm5 A G 7: 104,154,053 (GRCm38) L401P probably damaging Het
Olfr109 T A 17: 37,467,080 (GRCm38) Y291* probably null Het
Olfr1238 C A 2: 89,406,522 (GRCm38) A186S possibly damaging Het
Olfr331 T C 11: 58,502,340 (GRCm38) D72G probably damaging Het
Olfr828 G A 9: 18,815,892 (GRCm38) T134M probably benign Het
Olfr952 T A 9: 39,426,891 (GRCm38) Y60F probably damaging Het
Oxgr1 T C 14: 120,022,448 (GRCm38) N116D probably damaging Het
Pcdha11 G T 18: 37,012,169 (GRCm38) probably null Het
Pi4ka T C 16: 17,358,322 (GRCm38) I418V probably benign Het
Pih1d2 T C 9: 50,618,609 (GRCm38) V62A probably benign Het
Pkib T A 10: 57,728,138 (GRCm38) V46E probably damaging Het
Pum1 A G 4: 130,728,287 (GRCm38) probably null Het
Rbak G T 5: 143,176,552 (GRCm38) Q19K possibly damaging Het
Sema3c A G 5: 17,576,961 (GRCm38) T32A probably damaging Het
Shprh T C 10: 11,167,873 (GRCm38) W835R probably damaging Het
Sis T G 3: 72,911,854 (GRCm38) K1456N probably damaging Het
Slc4a4 A T 5: 89,179,729 (GRCm38) N675I probably benign Het
Slc8a3 C A 12: 81,315,627 (GRCm38) M139I probably damaging Het
Sorcs3 T C 19: 48,802,759 (GRCm38) F1182S probably damaging Het
St8sia2 A T 7: 73,971,921 (GRCm38) I96N probably damaging Het
Stx19 T C 16: 62,822,057 (GRCm38) S79P probably damaging Het
Tecta C T 9: 42,375,267 (GRCm38) V698M probably damaging Het
Timm22 T C 11: 76,411,139 (GRCm38) S150P probably damaging Het
Tjp1 C T 7: 65,313,205 (GRCm38) D995N possibly damaging Het
Tmem135 T A 7: 89,147,794 (GRCm38) T365S probably benign Het
Tmem174 T C 13: 98,636,981 (GRCm38) T114A probably benign Het
Tnc A G 4: 64,007,816 (GRCm38) I909T probably benign Het
Trcg1 A G 9: 57,241,330 (GRCm38) I62V possibly damaging Het
Tulp1 A T 17: 28,356,031 (GRCm38) *487K probably null Het
Unc79 T A 12: 103,131,646 (GRCm38) V1826E possibly damaging Het
Vmn2r13 A T 5: 109,174,116 (GRCm38) N238K probably damaging Het
Vmn2r22 T A 6: 123,637,738 (GRCm38) N298Y probably damaging Het
Vmn2r23 T A 6: 123,712,902 (GRCm38) F246I probably damaging Het
Vps9d1 A C 8: 123,248,639 (GRCm38) V194G probably damaging Het
Zfp260 A T 7: 30,104,810 (GRCm38) H45L possibly damaging Het
Zfp846 A T 9: 20,593,720 (GRCm38) H292L possibly damaging Het
Other mutations in Ap2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Ap2b1 APN 11 83,333,158 (GRCm38) missense probably damaging 0.99
IGL01583:Ap2b1 APN 11 83,324,611 (GRCm38) missense possibly damaging 0.61
IGL01753:Ap2b1 APN 11 83,321,973 (GRCm38) missense probably damaging 1.00
IGL01992:Ap2b1 APN 11 83,335,530 (GRCm38) missense probably damaging 1.00
IGL02192:Ap2b1 APN 11 83,346,766 (GRCm38) missense possibly damaging 0.48
IGL02315:Ap2b1 APN 11 83,336,799 (GRCm38) missense probably damaging 0.96
IGL03235:Ap2b1 APN 11 83,341,384 (GRCm38) missense probably benign 0.41
P0045:Ap2b1 UTSW 11 83,368,026 (GRCm38) missense probably damaging 1.00
R0121:Ap2b1 UTSW 11 83,321,967 (GRCm38) missense possibly damaging 0.66
R0334:Ap2b1 UTSW 11 83,367,874 (GRCm38) splice site probably benign
R1222:Ap2b1 UTSW 11 83,346,738 (GRCm38) missense probably benign 0.06
R1297:Ap2b1 UTSW 11 83,333,109 (GRCm38) missense probably damaging 1.00
R1653:Ap2b1 UTSW 11 83,346,831 (GRCm38) missense probably damaging 1.00
R1719:Ap2b1 UTSW 11 83,324,604 (GRCm38) missense probably damaging 1.00
R1885:Ap2b1 UTSW 11 83,390,735 (GRCm38) missense probably damaging 0.99
R1886:Ap2b1 UTSW 11 83,390,735 (GRCm38) missense probably damaging 0.99
R1965:Ap2b1 UTSW 11 83,346,895 (GRCm38) missense probably benign 0.00
R1966:Ap2b1 UTSW 11 83,346,895 (GRCm38) missense probably benign 0.00
R2046:Ap2b1 UTSW 11 83,336,386 (GRCm38) missense probably benign 0.14
R2086:Ap2b1 UTSW 11 83,351,118 (GRCm38) missense possibly damaging 0.88
R2132:Ap2b1 UTSW 11 83,324,761 (GRCm38) splice site probably benign
R3615:Ap2b1 UTSW 11 83,324,565 (GRCm38) missense possibly damaging 0.84
R3616:Ap2b1 UTSW 11 83,324,565 (GRCm38) missense possibly damaging 0.84
R3983:Ap2b1 UTSW 11 83,390,716 (GRCm38) missense probably damaging 1.00
R4124:Ap2b1 UTSW 11 83,365,645 (GRCm38) critical splice acceptor site probably null
R4125:Ap2b1 UTSW 11 83,365,645 (GRCm38) critical splice acceptor site probably null
R4198:Ap2b1 UTSW 11 83,342,603 (GRCm38) missense probably damaging 1.00
R4202:Ap2b1 UTSW 11 83,335,604 (GRCm38) critical splice donor site probably null
R4543:Ap2b1 UTSW 11 83,324,650 (GRCm38) missense probably damaging 1.00
R4583:Ap2b1 UTSW 11 83,397,779 (GRCm38) missense probably benign 0.00
R4589:Ap2b1 UTSW 11 83,333,011 (GRCm38) nonsense probably null
R4916:Ap2b1 UTSW 11 83,390,706 (GRCm38) missense probably damaging 1.00
R5005:Ap2b1 UTSW 11 83,339,392 (GRCm38) missense probably damaging 1.00
R5385:Ap2b1 UTSW 11 83,342,601 (GRCm38) missense probably damaging 1.00
R5510:Ap2b1 UTSW 11 83,336,737 (GRCm38) splice site probably null
R5738:Ap2b1 UTSW 11 83,336,430 (GRCm38) splice site probably null
R6023:Ap2b1 UTSW 11 83,335,398 (GRCm38) missense probably damaging 0.99
R6269:Ap2b1 UTSW 11 83,346,673 (GRCm38) missense probably damaging 1.00
R6383:Ap2b1 UTSW 11 83,346,825 (GRCm38) missense probably damaging 1.00
R6502:Ap2b1 UTSW 11 83,342,679 (GRCm38) missense probably damaging 0.97
R6810:Ap2b1 UTSW 11 83,335,491 (GRCm38) missense possibly damaging 0.89
R6969:Ap2b1 UTSW 11 83,389,726 (GRCm38) missense probably damaging 0.99
R7238:Ap2b1 UTSW 11 83,333,122 (GRCm38) missense possibly damaging 0.91
R7241:Ap2b1 UTSW 11 83,351,105 (GRCm38) missense probably benign 0.16
R7429:Ap2b1 UTSW 11 83,367,998 (GRCm38) missense probably benign 0.00
R7588:Ap2b1 UTSW 11 83,324,522 (GRCm38) missense probably benign 0.00
R7635:Ap2b1 UTSW 11 83,389,728 (GRCm38) missense probably benign 0.09
R7651:Ap2b1 UTSW 11 83,339,430 (GRCm38) critical splice donor site probably null
R7753:Ap2b1 UTSW 11 83,367,907 (GRCm38) nonsense probably null
R8468:Ap2b1 UTSW 11 83,351,065 (GRCm38) missense probably damaging 1.00
R8943:Ap2b1 UTSW 11 83,346,753 (GRCm38) missense probably damaging 1.00
R9093:Ap2b1 UTSW 11 83,324,569 (GRCm38) missense probably damaging 1.00
R9621:Ap2b1 UTSW 11 83,402,598 (GRCm38) missense probably damaging 1.00
X0064:Ap2b1 UTSW 11 83,324,569 (GRCm38) missense probably damaging 1.00
Z1177:Ap2b1 UTSW 11 83,365,753 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCAAGTTGCAGTTCTTATTTCCCG -3'
(R):5'- AGCATGTAAAGTCCCCTACACTTC -3'

Sequencing Primer
(F):5'- GTGCTGCTTGAACCACAAATG -3'
(R):5'- TAAAGTCCCCTACACTTCAATAAATG -3'
Posted On 2018-05-24