Incidental Mutation 'R9621:Ap2b1'
ID 724811
Institutional Source Beutler Lab
Gene Symbol Ap2b1
Ensembl Gene ENSMUSG00000035152
Gene Name adaptor-related protein complex 2, beta 1 subunit
Synonyms 1300012O03Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9621 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83189850-83295861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83293424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 937 (V937A)
Ref Sequence ENSEMBL: ENSMUSP00000018875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523]
AlphaFold Q9DBG3
Predicted Effect probably damaging
Transcript: ENSMUST00000018875
AA Change: V937A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: V937A

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 possibly damaging
Transcript: ENSMUST00000065692
AA Change: V923A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: V923A

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 probably benign
Transcript: ENSMUST00000176430
SMART Domains Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

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 damaging
Transcript: ENSMUST00000176523
AA Change: V899A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: V899A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,092,918 (GRCm39) T289A probably benign Het
Adnp A T 2: 168,024,663 (GRCm39) S877R probably benign Het
Akap13 T A 7: 75,386,090 (GRCm39) H555Q probably benign Het
Alg6 T A 4: 99,615,131 (GRCm39) Y38* probably null Het
Amtn C A 5: 88,528,205 (GRCm39) Q93K probably benign Het
Arih1 ATCGTCCGGCTCGTCCTCGTCGTCGTCC ATCGTCC 9: 59,393,520 (GRCm39) probably benign Het
Atosa A G 9: 74,917,512 (GRCm39) N711D possibly damaging Het
Bhmt A G 13: 93,758,079 (GRCm39) S211P possibly damaging Het
Bltp3a T A 17: 28,105,753 (GRCm39) S760T probably benign Het
Bmp1 T C 14: 70,715,306 (GRCm39) Y943C probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cbfb A C 8: 105,905,243 (GRCm39) T62P probably damaging Het
Ccdc154 T C 17: 25,386,355 (GRCm39) F249L probably damaging Het
Cdh26 T A 2: 178,111,983 (GRCm39) F514L probably damaging Het
Cdhr2 A G 13: 54,866,350 (GRCm39) E352G Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Cfdp1 A G 8: 112,571,807 (GRCm39) V34A probably damaging Het
Cntnap2 A T 6: 46,965,726 (GRCm39) I846F probably damaging Het
Cntrl A G 2: 35,050,278 (GRCm39) K1464E probably damaging Het
Crybg3 T C 16: 59,326,613 (GRCm39) D1039G possibly damaging Het
Csmd3 A T 15: 47,713,116 (GRCm39) S778R Het
Daam2 C T 17: 49,780,332 (GRCm39) C729Y probably damaging Het
Ddx18 T C 1: 121,489,132 (GRCm39) H305R probably damaging Het
Dio1 C T 4: 107,149,558 (GRCm39) C248Y probably benign Het
Dnah1 C A 14: 31,016,772 (GRCm39) A1582S probably damaging Het
Eef1a1 A T 9: 78,386,632 (GRCm39) D319E probably benign Het
Fam171b G A 2: 83,643,109 (GRCm39) R6H probably damaging Het
Flnb G A 14: 7,926,421 (GRCm38) G1822R probably damaging Het
Gabrb1 G A 5: 72,279,363 (GRCm39) V303I possibly damaging Het
Gli3 T G 13: 15,901,253 (GRCm39) S1547A probably benign Het
Gm4884 A T 7: 40,693,111 (GRCm39) N360I possibly damaging Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Ino80 C G 2: 119,280,496 (GRCm39) K289N probably damaging Het
Itpr1 G A 6: 108,393,870 (GRCm39) E1638K probably damaging Het
Jakmip1 A T 5: 37,274,812 (GRCm39) I45F unknown Het
Kif1a G A 1: 92,983,445 (GRCm39) P684L probably benign Het
Kpnb1 A T 11: 97,058,460 (GRCm39) S610T probably benign Het
Man1a2 A G 3: 100,591,961 (GRCm39) V73A probably benign Het
Mbtps1 A G 8: 120,235,621 (GRCm39) V1019A possibly damaging Het
Muc21 T A 17: 35,932,720 (GRCm39) T489S unknown Het
Nup210 G C 6: 90,994,375 (GRCm39) N1774K probably benign Het
Or10p21 G T 10: 128,847,759 (GRCm39) V202F probably benign Het
Pik3c2b T C 1: 132,999,345 (GRCm39) S398P probably damaging Het
Pmpca A G 2: 26,279,988 (GRCm39) T37A probably benign Het
Ppfia1 A G 7: 144,052,516 (GRCm39) S840P probably damaging Het
Prkcq A T 2: 11,261,014 (GRCm39) K355N probably benign Het
Prorp C A 12: 55,429,042 (GRCm39) H538N probably benign Het
Ptprg A G 14: 12,237,809 (GRCm38) K1422R probably benign Het
Ptprq T C 10: 107,378,523 (GRCm39) E2006G probably damaging Het
Qsox1 TG T 1: 155,671,135 (GRCm39) probably null Het
Rcor2 A T 19: 7,251,591 (GRCm39) T412S probably benign Het
Rnf224 A T 2: 25,126,200 (GRCm39) M51K probably benign Het
Robo4 A G 9: 37,317,509 (GRCm39) D521G probably damaging Het
Sf3b4 T A 3: 96,084,115 (GRCm39) S360T unknown Het
Sgo2b T C 8: 64,380,651 (GRCm39) D727G probably damaging Het
Smpd2 C A 10: 41,364,283 (GRCm39) V172L probably benign Het
Spring1 C T 5: 118,393,880 (GRCm39) T86I possibly damaging Het
Syne1 C T 10: 5,273,887 (GRCm39) A1966T probably benign Het
Syt13 G A 2: 92,745,575 (GRCm39) G15D possibly damaging Het
Taf3 A T 2: 9,923,070 (GRCm39) L18Q unknown Het
Tcam1 T A 11: 106,176,259 (GRCm39) N328K probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tet2 A T 3: 133,193,767 (GRCm39) Y222* probably null Het
Timm29 A T 9: 21,504,218 (GRCm39) probably benign Het
Tmc6 T C 11: 117,669,995 (GRCm39) D17G probably benign Het
Tmem30a T A 9: 79,687,926 (GRCm39) D81V probably benign Het
Tnnt1 T C 7: 4,511,501 (GRCm39) I195V probably benign Het
Ttll5 T A 12: 85,938,896 (GRCm39) V398E possibly damaging Het
Ttn T C 2: 76,748,441 (GRCm39) T4203A possibly damaging Het
Ubc A G 5: 125,464,511 (GRCm39) I272T probably damaging Het
Unc45a A G 7: 79,983,785 (GRCm39) L337P probably damaging Het
Vmn1r229 T C 17: 21,035,315 (GRCm39) F187L probably benign Het
Wrn A T 8: 33,814,301 (GRCm39) M381K probably benign Het
Zdbf2 A G 1: 63,342,635 (GRCm39) N338S possibly damaging Het
Zfp541 A G 7: 15,805,892 (GRCm39) E9G possibly damaging Het
Zrsr2-ps1 G A 11: 22,923,418 (GRCm39) R64Q possibly damaging Het
Zswim8 T A 14: 20,772,231 (GRCm39) S1614T 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
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
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'- CCAAGCTGGAGTTCTGAAATCC -3'
(R):5'- CCTATCCAACAGGGTGAATGC -3'

Sequencing Primer
(F):5'- CTGGAGTTCTGAAATCCATGGTTTG -3'
(R):5'- CCTATCCAACAGGGTGAATGCTAATG -3'
Posted On 2022-09-12