Incidental Mutation 'R2907:Ap1b1'
ID 261699
Institutional Source Beutler Lab
Gene Symbol Ap1b1
Ensembl Gene ENSMUSG00000009090
Gene Name adaptor protein complex AP-1, beta 1 subunit
Synonyms Adtb1, beta-prime adaptin, b2b1660Clo
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 4936824-4992791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4981641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 516 (N516K)
Ref Sequence ENSEMBL: ENSMUSP00000009234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]
AlphaFold O35643
Predicted Effect probably damaging
Transcript: ENSMUST00000009234
AA Change: N516K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: N516K

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 534 1.5e-174 PFAM
Pfam:HEAT_2 88 157 3.2e-8 PFAM
Pfam:Cnd1 99 268 4.1e-41 PFAM
low complexity region 594 616 N/A INTRINSIC
low complexity region 626 638 N/A INTRINSIC
low complexity region 657 670 N/A INTRINSIC
low complexity region 674 686 N/A INTRINSIC
Alpha_adaptinC2 713 823 3.38e-18 SMART
B2-adapt-app_C 832 942 4.6e-51 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101613
AA Change: N489K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: N489K

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 179 7.5e-61 PFAM
Pfam:HEAT_2 88 179 2e-9 PFAM
Pfam:Cnd1 99 176 2.4e-19 PFAM
Pfam:Cnd1 174 241 1.9e-10 PFAM
Pfam:Adaptin_N 176 507 3.8e-102 PFAM
low complexity region 567 589 N/A INTRINSIC
low complexity region 599 611 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 654 666 N/A INTRINSIC
Alpha_adaptinC2 693 803 3.38e-18 SMART
B2-adapt-app_C 812 922 4.6e-51 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109897
AA Change: N489K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: N489K

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 179 1.2e-60 PFAM
Pfam:HEAT_2 88 185 3.9e-10 PFAM
Pfam:Cnd1 99 175 5e-20 PFAM
Pfam:Cnd1 174 241 1.7e-7 PFAM
Pfam:Adaptin_N 176 507 4.9e-102 PFAM
low complexity region 567 589 N/A INTRINSIC
low complexity region 599 611 N/A INTRINSIC
low complexity region 630 643 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
Alpha_adaptinC2 686 796 3.38e-18 SMART
B2-adapt-app_C 805 915 4.6e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145704
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V probably benign Het
Other mutations in Ap1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ap1b1 APN 11 4,969,433 (GRCm39) missense probably damaging 1.00
IGL01843:Ap1b1 APN 11 4,989,169 (GRCm39) missense probably damaging 1.00
IGL01981:Ap1b1 APN 11 4,969,336 (GRCm39) missense possibly damaging 0.84
IGL02055:Ap1b1 APN 11 4,974,452 (GRCm39) nonsense probably null
IGL02318:Ap1b1 APN 11 4,969,294 (GRCm39) missense probably benign 0.14
IGL02505:Ap1b1 APN 11 4,981,700 (GRCm39) missense probably benign 0.11
IGL02824:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
IGL02825:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
IGL02963:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
PIT4142001:Ap1b1 UTSW 11 4,990,360 (GRCm39) missense probably damaging 1.00
R0321:Ap1b1 UTSW 11 4,982,464 (GRCm39) missense probably benign
R0477:Ap1b1 UTSW 11 4,981,787 (GRCm39) missense probably benign 0.13
R0622:Ap1b1 UTSW 11 4,987,707 (GRCm39) missense probably damaging 0.96
R0831:Ap1b1 UTSW 11 4,973,092 (GRCm39) splice site probably benign
R1502:Ap1b1 UTSW 11 4,990,290 (GRCm39) missense probably benign
R1529:Ap1b1 UTSW 11 4,989,547 (GRCm39) missense probably damaging 1.00
R2110:Ap1b1 UTSW 11 4,965,613 (GRCm39) missense probably damaging 0.99
R2112:Ap1b1 UTSW 11 4,965,613 (GRCm39) missense probably damaging 0.99
R2186:Ap1b1 UTSW 11 4,965,737 (GRCm39) missense possibly damaging 0.84
R2906:Ap1b1 UTSW 11 4,981,641 (GRCm39) missense probably damaging 1.00
R2908:Ap1b1 UTSW 11 4,981,641 (GRCm39) missense probably damaging 1.00
R3154:Ap1b1 UTSW 11 4,973,135 (GRCm39) missense possibly damaging 0.95
R3611:Ap1b1 UTSW 11 4,974,427 (GRCm39) missense possibly damaging 0.87
R3805:Ap1b1 UTSW 11 4,983,225 (GRCm39) splice site probably null
R4207:Ap1b1 UTSW 11 4,981,637 (GRCm39) missense probably damaging 0.96
R4660:Ap1b1 UTSW 11 4,966,760 (GRCm39) missense probably damaging 1.00
R4710:Ap1b1 UTSW 11 4,981,664 (GRCm39) missense probably damaging 0.97
R4826:Ap1b1 UTSW 11 4,968,043 (GRCm39) missense probably benign 0.11
R4914:Ap1b1 UTSW 11 4,974,400 (GRCm39) missense possibly damaging 0.73
R5086:Ap1b1 UTSW 11 4,968,020 (GRCm39) missense possibly damaging 0.83
R5249:Ap1b1 UTSW 11 4,976,364 (GRCm39) missense probably damaging 0.97
R6014:Ap1b1 UTSW 11 4,969,364 (GRCm39) missense possibly damaging 0.55
R6268:Ap1b1 UTSW 11 4,969,493 (GRCm39) missense probably damaging 1.00
R6388:Ap1b1 UTSW 11 4,976,319 (GRCm39) missense probably damaging 1.00
R6765:Ap1b1 UTSW 11 4,969,427 (GRCm39) missense probably damaging 1.00
R6913:Ap1b1 UTSW 11 4,962,972 (GRCm39) missense possibly damaging 0.84
R7012:Ap1b1 UTSW 11 4,980,963 (GRCm39) missense probably damaging 1.00
R7107:Ap1b1 UTSW 11 4,989,558 (GRCm39) missense probably benign 0.02
R8291:Ap1b1 UTSW 11 4,968,027 (GRCm39) missense probably damaging 1.00
R9075:Ap1b1 UTSW 11 4,975,597 (GRCm39) missense possibly damaging 0.93
R9090:Ap1b1 UTSW 11 4,973,174 (GRCm39) missense probably damaging 1.00
R9271:Ap1b1 UTSW 11 4,973,174 (GRCm39) missense probably damaging 1.00
R9297:Ap1b1 UTSW 11 4,990,157 (GRCm39) missense probably benign 0.05
R9318:Ap1b1 UTSW 11 4,990,157 (GRCm39) missense probably benign 0.05
R9560:Ap1b1 UTSW 11 4,976,363 (GRCm39) missense probably benign 0.38
X0018:Ap1b1 UTSW 11 4,959,581 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGTTTGAAAGCCAACTTTTG -3'
(R):5'- TTGTGGTAGACAGAGGCCAG -3'

Sequencing Primer
(F):5'- GCAGAGCTCTGAGTTCAAAGTC -3'
(R):5'- CAGCGTGCCAATGTAGCAG -3'
Posted On 2015-01-23