Incidental Mutation 'R7854:Ap1g2'
| ID |
607153 |
| 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 |
045907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R7854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55343390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 66
(F66L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
|
| AlphaFold |
O88512 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022819
|
| SMART Domains |
Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
| Domain | Start | End | E-Value | Type |
|---|
|
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: F66L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: F66L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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: F66L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
|
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151314
AA Change: F66L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
|
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170285
AA Change: F66L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,741,207 (GRCm39) |
I86F |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,727,564 (GRCm39) |
*953W |
probably null |
Het |
| Aqp12 |
T |
G |
1: 92,934,176 (GRCm39) |
C18G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,490,523 (GRCm39) |
I826V |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,494,700 (GRCm39) |
Q321R |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,627,991 (GRCm39) |
I48V |
possibly damaging |
Het |
| Cep63 |
A |
T |
9: 102,480,197 (GRCm39) |
S269R |
probably damaging |
Het |
| Chchd7 |
T |
C |
4: 3,943,422 (GRCm39) |
V63A |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,969,964 (GRCm39) |
D163G |
probably benign |
Het |
| Dpep2 |
T |
C |
8: 106,716,160 (GRCm39) |
D251G |
|
Het |
| Ercc6 |
T |
C |
14: 32,288,249 (GRCm39) |
L807P |
probably damaging |
Het |
| Fads6 |
A |
T |
11: 115,188,222 (GRCm39) |
D27E |
probably benign |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,977,773 (GRCm39) |
I37N |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,030 (GRCm39) |
L128P |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,611,926 (GRCm39) |
T130A |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,467,631 (GRCm39) |
Y2527N |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,364,330 (GRCm39) |
D820G |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,751,276 (GRCm39) |
Y1289H |
probably damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,908,172 (GRCm39) |
I263F |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,917 (GRCm39) |
M427L |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,159,966 (GRCm39) |
M91L |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,089,741 (GRCm39) |
Y48F |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,231 (GRCm39) |
Y128C |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,066,938 (GRCm39) |
D140G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,981,538 (GRCm39) |
T1827A |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,828,036 (GRCm39) |
R302G |
probably benign |
Het |
| Or51f2 |
C |
T |
7: 102,526,992 (GRCm39) |
R222* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,896,805 (GRCm39) |
E1943G |
unknown |
Het |
| Pex19 |
T |
G |
1: 171,954,417 (GRCm39) |
|
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,117 (GRCm39) |
N166S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,066 (GRCm39) |
V328E |
probably damaging |
Het |
| Pstpip2 |
C |
T |
18: 77,962,004 (GRCm39) |
T258I |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Ros1 |
T |
C |
10: 52,004,563 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,748,779 (GRCm39) |
M787T |
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,596,730 (GRCm39) |
R1440W |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,396 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,061,835 (GRCm39) |
I2335V |
probably benign |
Het |
| Srp68 |
G |
C |
11: 116,144,909 (GRCm39) |
|
probably null |
Het |
| Taar1 |
A |
G |
10: 23,796,680 (GRCm39) |
D126G |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,013,395 (GRCm39) |
T1210A |
probably benign |
Het |
| Tle5 |
A |
G |
10: 81,401,481 (GRCm39) |
H183R |
probably damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,687,653 (GRCm39) |
F364L |
probably damaging |
Het |
| Trav2 |
A |
T |
14: 52,805,238 (GRCm39) |
K20* |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,951,918 (GRCm39) |
E927G |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,026,776 (GRCm39) |
D637E |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,580,009 (GRCm39) |
F271L |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,894 (GRCm39) |
D7V |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,321,512 (GRCm39) |
T534I |
unknown |
Het |
|
| Other mutations in Ap1g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R1561:Ap1g2
|
UTSW |
14 |
55,342,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GATGACAGCAGGCAGGTTTC -3'
(R):5'- GACCTAATCGAAGAGATTCGCG -3'
Sequencing Primer
(F):5'- GTCCCTACACTGAAACGGAGG -3'
(R):5'- AGATTCGCGGGGCCAAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation