Incidental Mutation 'R1561:Ap1g2'
ID 170631
Institutional Source Beutler Lab
Gene Symbol Ap1g2
Ensembl Gene ENSMUSG00000040701
Gene Name adaptor protein complex AP-1, gamma 2 subunit
Synonyms gamma 2-adaptin, Adtg2
MMRRC Submission 039600-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R1561 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55336292-55344050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55342344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 171 (E171G)
Ref Sequence ENSEMBL: ENSMUSP00000122796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000170285] [ENSMUST00000151314]
AlphaFold O88512
Predicted Effect probably benign
Transcript: ENSMUST00000022819
SMART Domains Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000036041
AA Change: E171G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 2.7e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124493
SMART Domains Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127870
AA Change: E171G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131323
AA Change: E171G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132992
Predicted Effect probably damaging
Transcript: ENSMUST00000170285
AA Change: E171G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 1.5e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151314
AA Change: E171G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144197
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the gamma-2 subunit of the adaptor protein complex 1 (AP-1). AP-1 complex is a heterotetramer comprised of two heavy and one each of medium and small subunits. The encoded protein is a heavy subunit of AP-1 complex that regulates polarized sorting of cargo at the trans-Golgi network and endosomes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,431 (GRCm39) N69D probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atg7 T C 6: 114,678,133 (GRCm39) V341A possibly damaging Het
Bace1 G T 9: 45,750,492 (GRCm39) R56L probably benign Het
Cd200l1 A G 16: 45,262,875 (GRCm39) V88A possibly damaging Het
Chfr A T 5: 110,306,674 (GRCm39) D472V probably benign Het
Ckap2l G A 2: 129,112,645 (GRCm39) T621I probably benign Het
Cmip A G 8: 118,180,589 (GRCm39) T554A probably benign Het
Crocc C T 4: 140,757,579 (GRCm39) E905K probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
F5 C A 1: 164,014,472 (GRCm39) S581* probably null Het
Fam227a T A 15: 79,520,963 (GRCm39) Y291F possibly damaging Het
Gpr151 A T 18: 42,712,221 (GRCm39) S152R probably benign Het
Gpr158 A T 2: 21,820,505 (GRCm39) probably null Het
Kcna5 T C 6: 126,511,546 (GRCm39) Y194C probably damaging Het
Khsrp A G 17: 57,332,639 (GRCm39) S214P probably benign Het
Mrgprb1 C G 7: 48,096,873 (GRCm39) probably null Het
Mrnip C T 11: 50,067,676 (GRCm39) T30I probably damaging Het
Mtus2 A C 5: 148,013,362 (GRCm39) K52Q probably benign Het
Naca G T 10: 127,876,267 (GRCm39) probably benign Het
Obscn T G 11: 58,926,899 (GRCm39) T5539P probably damaging Het
Or13p3 T A 4: 118,566,751 (GRCm39) I49N probably damaging Het
Or9m1 C T 2: 87,733,505 (GRCm39) V172I probably benign Het
Ovca2 A G 11: 75,068,805 (GRCm39) L198P probably damaging Het
Pdzrn4 T C 15: 92,575,518 (GRCm39) V308A possibly damaging Het
Pkd1l3 A G 8: 110,341,445 (GRCm39) I99M unknown Het
Polr3b T A 10: 84,470,776 (GRCm39) M139K probably damaging Het
Prkag2 T C 5: 25,076,593 (GRCm39) Y191C probably damaging Het
Prss47 A T 13: 65,194,062 (GRCm39) C278S probably damaging Het
Ptprm T C 17: 67,247,536 (GRCm39) T600A probably damaging Het
Ruvbl1 T C 6: 88,456,136 (GRCm39) V70A probably damaging Het
Sf3a1 T C 11: 4,129,217 (GRCm39) V726A probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc26a3 A G 12: 31,516,451 (GRCm39) N603S probably benign Het
Slc2a1 A G 4: 118,993,606 (GRCm39) E481G possibly damaging Het
Slc35a5 A C 16: 44,971,884 (GRCm39) S127A possibly damaging Het
Spen C A 4: 141,199,694 (GRCm39) G2978* probably null Het
Srrt T A 5: 137,298,281 (GRCm39) E297V probably benign Het
Srsf4 T A 4: 131,625,006 (GRCm39) D134E probably damaging Het
Tdrd6 G A 17: 43,936,515 (GRCm39) S1511L probably damaging Het
Tmem65 T A 15: 58,694,707 (GRCm39) I91F probably benign Het
Top2b A G 14: 16,398,993 (GRCm38) K538E possibly damaging Het
Trappc8 G A 18: 20,974,680 (GRCm39) R883* probably null Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vav3 T C 3: 109,402,154 (GRCm39) probably null Het
Vmn1r42 C T 6: 89,822,363 (GRCm39) G69S probably damaging Het
Zan A T 5: 137,379,100 (GRCm39) Y5333* probably null Het
Zfp994 A C 17: 22,420,206 (GRCm39) F248V probably damaging Het
Other mutations in Ap1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1g2 APN 14 55,342,571 (GRCm39) missense probably benign 0.01
IGL02421:Ap1g2 APN 14 55,339,859 (GRCm39) missense probably damaging 1.00
IGL02633:Ap1g2 APN 14 55,338,104 (GRCm39) splice site probably null
IGL02967:Ap1g2 APN 14 55,342,479 (GRCm39) splice site probably benign
IGL03030:Ap1g2 APN 14 55,343,504 (GRCm39) missense probably damaging 1.00
IGL03087:Ap1g2 APN 14 55,340,493 (GRCm39) missense probably damaging 0.99
IGL03261:Ap1g2 APN 14 55,337,987 (GRCm39) missense probably benign 0.00
IGL03308:Ap1g2 APN 14 55,342,333 (GRCm39) missense probably benign 0.44
R0284:Ap1g2 UTSW 14 55,339,149 (GRCm39) splice site probably benign
R0614:Ap1g2 UTSW 14 55,337,230 (GRCm39) missense probably benign 0.00
R0762:Ap1g2 UTSW 14 55,337,868 (GRCm39) splice site probably benign
R1889:Ap1g2 UTSW 14 55,338,886 (GRCm39) missense probably damaging 1.00
R1938:Ap1g2 UTSW 14 55,337,229 (GRCm39) missense possibly damaging 0.80
R1997:Ap1g2 UTSW 14 55,339,835 (GRCm39) missense probably benign 0.00
R2169:Ap1g2 UTSW 14 55,336,797 (GRCm39) critical splice acceptor site probably null
R3157:Ap1g2 UTSW 14 55,336,731 (GRCm39) missense probably damaging 0.96
R3820:Ap1g2 UTSW 14 55,338,030 (GRCm39) splice site probably benign
R3850:Ap1g2 UTSW 14 55,342,363 (GRCm39) missense probably benign 0.03
R4750:Ap1g2 UTSW 14 55,341,822 (GRCm39) missense probably damaging 1.00
R4909:Ap1g2 UTSW 14 55,342,483 (GRCm39) critical splice donor site probably null
R5305:Ap1g2 UTSW 14 55,336,533 (GRCm39) missense probably benign
R5880:Ap1g2 UTSW 14 55,340,157 (GRCm39) missense probably damaging 1.00
R6243:Ap1g2 UTSW 14 55,336,530 (GRCm39) missense probably benign
R6964:Ap1g2 UTSW 14 55,336,722 (GRCm39) missense possibly damaging 0.85
R7039:Ap1g2 UTSW 14 55,340,111 (GRCm39) nonsense probably null
R7180:Ap1g2 UTSW 14 55,341,908 (GRCm39) missense probably damaging 1.00
R7563:Ap1g2 UTSW 14 55,337,206 (GRCm39) missense probably damaging 1.00
R7818:Ap1g2 UTSW 14 55,337,181 (GRCm39) missense probably benign 0.44
R7854:Ap1g2 UTSW 14 55,343,390 (GRCm39) missense probably damaging 1.00
R9060:Ap1g2 UTSW 14 55,337,887 (GRCm39) missense probably benign 0.00
R9171:Ap1g2 UTSW 14 55,336,581 (GRCm39) missense probably benign 0.05
R9276:Ap1g2 UTSW 14 55,339,818 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTGGGAACACAGCAAGTAAGGC -3'
(R):5'- TCCCTATGTGCGGAAGAAGGTGAG -3'

Sequencing Primer
(F):5'- GAGTATCCTGTAGTCACCAGAGTC -3'
(R):5'- AGATGTGGGCGGTTACCTC -3'
Posted On 2014-04-13