Incidental Mutation 'R7012:Ap1b1'
ID 545086
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 045113-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R7012 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 4936824-4992791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 4980963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 453 (V453G)
Ref Sequence ENSEMBL: ENSMUSP00000105523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]
AlphaFold O35643
Predicted Effect probably damaging
Transcript: ENSMUST00000009234
AA Change: V480G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: V480G

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: V453G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: V453G

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: V453G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: V453G

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
Meta Mutation Damage Score 0.6112 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,431 (GRCm39) F686L probably benign Het
Adcy4 C T 14: 56,017,376 (GRCm39) V266I possibly damaging Het
Adgrb1 A G 15: 74,401,750 (GRCm39) T249A probably damaging Het
Adss1 A G 12: 112,600,670 (GRCm39) D213G probably benign Het
Apold1 G A 6: 134,961,007 (GRCm39) G154R probably damaging Het
Birc5 A G 11: 117,740,262 (GRCm39) E29G probably benign Het
Clcn1 G A 6: 42,267,542 (GRCm39) R75H probably benign Het
Cngb1 T A 8: 95,984,583 (GRCm39) I868F possibly damaging Het
Cntn6 T A 6: 104,703,223 (GRCm39) V215E probably damaging Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Col6a2 A T 10: 76,450,511 (GRCm39) I140N possibly damaging Het
Cops5 A G 1: 10,100,890 (GRCm39) *147Q probably null Het
Dbr1 T A 9: 99,465,374 (GRCm39) Y317* probably null Het
Dock5 A C 14: 68,060,035 (GRCm39) V468G probably damaging Het
F13b A G 1: 139,444,096 (GRCm39) I477V probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Git1 T C 11: 77,390,606 (GRCm39) L114P probably damaging Het
Greb1l G T 18: 10,529,707 (GRCm39) probably null Het
Itih4 A G 14: 30,612,706 (GRCm39) N244S probably benign Het
Lin28a A G 4: 133,746,040 (GRCm39) S5P probably damaging Het
Lipt1 T C 1: 37,915,060 (GRCm39) I372T probably benign Het
Lysmd4 A G 7: 66,875,765 (GRCm39) T143A probably benign Het
Muc16 T C 9: 18,406,914 (GRCm39) probably null Het
Or13c9 A G 4: 52,936,193 (GRCm39) L30P probably damaging Het
Or2y1g A T 11: 49,171,823 (GRCm39) M283L probably benign Het
Or5t16 A T 2: 86,819,051 (GRCm39) H156Q possibly damaging Het
Or6e1 A G 14: 54,519,674 (GRCm39) I226T possibly damaging Het
Pclo G A 5: 14,800,493 (GRCm39) G4438D unknown Het
Phlpp2 T A 8: 110,603,486 (GRCm39) F51I possibly damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rxfp2 T C 5: 150,004,659 (GRCm39) V711A probably benign Het
Sbno2 A T 10: 79,905,352 (GRCm39) probably benign Het
Setd2 T A 9: 110,376,751 (GRCm39) S189T probably damaging Het
Sez6 A G 11: 77,868,621 (GRCm39) N965S probably benign Het
Sh3d19 A G 3: 85,992,320 (GRCm39) N116S probably benign Het
Slc43a3 T C 2: 84,777,313 (GRCm39) Y221H probably damaging Het
Slco1a6 T C 6: 142,032,287 (GRCm39) I613V probably benign Het
Stag3 T A 5: 138,295,871 (GRCm39) probably null Het
Ston1 T C 17: 88,943,413 (GRCm39) M273T probably damaging Het
Tbc1d32 A T 10: 56,100,820 (GRCm39) Y53N probably damaging Het
Tmem132b T A 5: 125,775,654 (GRCm39) L376Q probably damaging Het
Trim60 A G 8: 65,453,043 (GRCm39) V402A possibly damaging Het
Tssk5 A C 15: 76,257,745 (GRCm39) N178K probably damaging Het
Ttll9 T C 2: 152,844,982 (GRCm39) I450T possibly damaging Het
Tyw1 T G 5: 130,306,571 (GRCm39) probably null Het
Usp16 T C 16: 87,255,632 (GRCm39) probably null Het
Vmn2r97 T C 17: 19,167,756 (GRCm39) V670A probably damaging Het
Vmn2r98 A G 17: 19,286,530 (GRCm39) N343D probably benign Het
Zfp472 T G 17: 33,196,220 (GRCm39) N98K 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
R2907: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
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'- GGACTTGAAGCTCTTGACAGG -3'
(R):5'- TCTGACATTGATTCGCACATGC -3'

Sequencing Primer
(F):5'- GCTCTTGACAGGCATCTAGGAATC -3'
(R):5'- CATGCGCTACTCTTGAGAGATTAGAG -3'
Posted On 2019-05-13