Incidental Mutation 'R4305:Asap2'
| ID |
324004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asap2
|
| Ensembl Gene |
ENSMUSG00000052632 |
| Gene Name |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 |
| Synonyms |
6530401G17Rik, LOC385250, Ddef2 |
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
20990459-21270171 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21229481 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 426
(I426T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050990]
[ENSMUST00000064595]
[ENSMUST00000090834]
[ENSMUST00000101562]
|
| AlphaFold |
Q7SIG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050990
AA Change: I423T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: I423T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
PH
|
306 |
399 |
2.31e-18 |
SMART |
|
ArfGap
|
421 |
541 |
6.82e-27 |
SMART |
|
ANK
|
584 |
616 |
6.17e-1 |
SMART |
|
ANK
|
620 |
649 |
4.03e-5 |
SMART |
|
ANK
|
653 |
683 |
1.48e3 |
SMART |
|
low complexity region
|
693 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
847 |
N/A |
INTRINSIC |
|
SH3
|
896 |
954 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064595
AA Change: I423T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: I423T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR
|
11 |
247 |
2.4e-9 |
PFAM |
|
Pfam:BAR_3
|
31 |
265 |
3.3e-28 |
PFAM |
|
PH
|
306 |
399 |
2.31e-18 |
SMART |
|
ArfGap
|
421 |
541 |
6.82e-27 |
SMART |
|
ANK
|
584 |
616 |
6.17e-1 |
SMART |
|
ANK
|
620 |
649 |
4.03e-5 |
SMART |
|
ANK
|
653 |
683 |
1.48e3 |
SMART |
|
low complexity region
|
693 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
892 |
N/A |
INTRINSIC |
|
SH3
|
941 |
999 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090834
|
| SMART Domains |
Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
Blast:PH
|
196 |
318 |
1e-50 |
BLAST |
|
Blast:ArfGap
|
334 |
395 |
5e-30 |
BLAST |
|
ANK
|
438 |
470 |
6.17e-1 |
SMART |
|
ANK
|
474 |
503 |
4.03e-5 |
SMART |
|
ANK
|
507 |
537 |
1.48e3 |
SMART |
|
low complexity region
|
547 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
701 |
N/A |
INTRINSIC |
|
SH3
|
750 |
808 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101562
AA Change: I426T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: I426T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
PH
|
309 |
402 |
2.31e-18 |
SMART |
|
ArfGap
|
424 |
544 |
6.82e-27 |
SMART |
|
ANK
|
587 |
619 |
6.17e-1 |
SMART |
|
ANK
|
623 |
652 |
4.03e-5 |
SMART |
|
ANK
|
656 |
686 |
1.48e3 |
SMART |
|
low complexity region
|
696 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
850 |
N/A |
INTRINSIC |
|
SH3
|
899 |
957 |
4.28e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.5621 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 11,972,076 |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,641,563 |
M695K |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,341,992 |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 124,125,074 |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,234,670 |
V98A |
probably benign |
Het |
| Chrdl2 |
A |
G |
7: 100,022,022 |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,526,520 |
|
probably null |
Het |
| Fam71f1 |
A |
G |
6: 29,326,612 |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,633,992 |
E394G |
possibly damaging |
Het |
| Gm5155 |
T |
A |
7: 17,905,193 |
Y372N |
probably benign |
Het |
| Gm7173 |
C |
G |
X: 79,498,029 |
K469N |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,238,941 |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,904,270 |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,859,483 |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,548,010 |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,477,924 |
D657G |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,329,298 |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,843,260 |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,918,337 |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,274 |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,624,152 |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,248,237 |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,208,422 |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,324,344 |
|
probably benign |
Het |
|
| Other mutations in Asap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Asap2
|
APN |
12 |
21239648 |
missense |
possibly damaging |
0.66 |
|
IGL01140:Asap2
|
APN |
12 |
21206316 |
missense |
probably damaging |
1.00 |
|
IGL01285:Asap2
|
APN |
12 |
21229263 |
missense |
probably damaging |
1.00 |
|
IGL01318:Asap2
|
APN |
12 |
21247295 |
missense |
probably null |
0.00 |
|
IGL01355:Asap2
|
APN |
12 |
21218086 |
splice site |
probably benign |
|
|
IGL01593:Asap2
|
APN |
12 |
21213202 |
missense |
probably null |
0.03 |
|
IGL01705:Asap2
|
APN |
12 |
21249368 |
missense |
possibly damaging |
0.85 |
|
IGL01716:Asap2
|
APN |
12 |
21254306 |
missense |
possibly damaging |
0.94 |
|
IGL02822:Asap2
|
APN |
12 |
21265910 |
missense |
probably damaging |
1.00 |
|
IGL02876:Asap2
|
APN |
12 |
21258163 |
missense |
probably benign |
0.00 |
|
IGL02991:Asap2
|
APN |
12 |
21249293 |
splice site |
probably benign |
|
|
R0157:Asap2
|
UTSW |
12 |
21206325 |
missense |
probably damaging |
1.00 |
|
R0399:Asap2
|
UTSW |
12 |
21217997 |
missense |
possibly damaging |
0.90 |
|
R0472:Asap2
|
UTSW |
12 |
21213185 |
missense |
possibly damaging |
0.47 |
|
R0959:Asap2
|
UTSW |
12 |
21247319 |
missense |
probably damaging |
1.00 |
|
R0981:Asap2
|
UTSW |
12 |
21265960 |
missense |
probably damaging |
0.98 |
|
R1141:Asap2
|
UTSW |
12 |
21185110 |
missense |
probably damaging |
1.00 |
|
R1382:Asap2
|
UTSW |
12 |
21265954 |
missense |
probably damaging |
1.00 |
|
R1418:Asap2
|
UTSW |
12 |
21239585 |
missense |
probably damaging |
1.00 |
|
R1418:Asap2
|
UTSW |
12 |
21239589 |
missense |
probably damaging |
1.00 |
|
R1469:Asap2
|
UTSW |
12 |
21213179 |
missense |
probably benign |
0.00 |
|
R1469:Asap2
|
UTSW |
12 |
21213179 |
missense |
probably benign |
0.00 |
|
R1526:Asap2
|
UTSW |
12 |
21185187 |
missense |
probably damaging |
1.00 |
|
R1542:Asap2
|
UTSW |
12 |
21265997 |
missense |
probably damaging |
1.00 |
|
R1710:Asap2
|
UTSW |
12 |
21224392 |
missense |
probably damaging |
1.00 |
|
R1750:Asap2
|
UTSW |
12 |
21203998 |
missense |
probably damaging |
1.00 |
|
R2151:Asap2
|
UTSW |
12 |
21112083 |
missense |
probably damaging |
1.00 |
|
R2152:Asap2
|
UTSW |
12 |
21112083 |
missense |
probably damaging |
1.00 |
|
R2154:Asap2
|
UTSW |
12 |
21112083 |
missense |
probably damaging |
1.00 |
|
R2323:Asap2
|
UTSW |
12 |
21203968 |
missense |
probably damaging |
1.00 |
|
R2378:Asap2
|
UTSW |
12 |
21254318 |
missense |
possibly damaging |
0.95 |
|
R3151:Asap2
|
UTSW |
12 |
21224377 |
missense |
probably damaging |
1.00 |
|
R3757:Asap2
|
UTSW |
12 |
21267766 |
missense |
probably damaging |
1.00 |
|
R4307:Asap2
|
UTSW |
12 |
21229481 |
missense |
probably damaging |
1.00 |
|
R4308:Asap2
|
UTSW |
12 |
21229481 |
missense |
probably damaging |
1.00 |
|
R4345:Asap2
|
UTSW |
12 |
21230831 |
missense |
probably damaging |
1.00 |
|
R4525:Asap2
|
UTSW |
12 |
21229292 |
splice site |
probably null |
|
|
R4562:Asap2
|
UTSW |
12 |
21112093 |
missense |
probably damaging |
1.00 |
|
R4999:Asap2
|
UTSW |
12 |
21252765 |
missense |
probably benign |
0.19 |
|
R5027:Asap2
|
UTSW |
12 |
21204081 |
missense |
probably damaging |
1.00 |
|
R5221:Asap2
|
UTSW |
12 |
21213190 |
missense |
probably benign |
0.14 |
|
R5645:Asap2
|
UTSW |
12 |
21265982 |
missense |
probably damaging |
0.99 |
|
R5799:Asap2
|
UTSW |
12 |
21168246 |
missense |
probably damaging |
1.00 |
|
R5876:Asap2
|
UTSW |
12 |
21212809 |
missense |
possibly damaging |
0.88 |
|
R5888:Asap2
|
UTSW |
12 |
21218190 |
missense |
probably damaging |
1.00 |
|
R5912:Asap2
|
UTSW |
12 |
21206343 |
missense |
probably damaging |
1.00 |
|
R6576:Asap2
|
UTSW |
12 |
21244703 |
missense |
probably damaging |
1.00 |
|
R6896:Asap2
|
UTSW |
12 |
21265525 |
missense |
probably damaging |
1.00 |
|
R6934:Asap2
|
UTSW |
12 |
21168250 |
missense |
probably damaging |
1.00 |
|
R7134:Asap2
|
UTSW |
12 |
21265963 |
nonsense |
probably null |
|
|
R7347:Asap2
|
UTSW |
12 |
21229457 |
missense |
probably benign |
0.03 |
|
R7378:Asap2
|
UTSW |
12 |
21112051 |
missense |
probably benign |
0.01 |
|
R7515:Asap2
|
UTSW |
12 |
21229239 |
missense |
possibly damaging |
0.76 |
|
R8033:Asap2
|
UTSW |
12 |
21224389 |
missense |
probably damaging |
1.00 |
|
R8793:Asap2
|
UTSW |
12 |
21168211 |
missense |
probably damaging |
1.00 |
|
R8891:Asap2
|
UTSW |
12 |
21112143 |
missense |
probably damaging |
1.00 |
|
R8972:Asap2
|
UTSW |
12 |
21229248 |
missense |
probably damaging |
1.00 |
|
R9021:Asap2
|
UTSW |
12 |
21203998 |
missense |
possibly damaging |
0.94 |
|
R9216:Asap2
|
UTSW |
12 |
21213190 |
missense |
probably benign |
0.14 |
|
R9323:Asap2
|
UTSW |
12 |
21112147 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAATGTCAGATGTAAGTGCTGTG -3'
(R):5'- GATGAGCCCAGACTGCTTTG -3'
Sequencing Primer
(F):5'- CAGATGTAAGTGCTGTGGGTGG -3'
(R):5'- TTTCAGGCATCCCTGGAA -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation