Incidental Mutation 'R9268:Acap2'
| ID |
702707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap2
|
| Ensembl Gene |
ENSMUSG00000049076 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
| Synonyms |
Centb2, 9530039J15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R9268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30955392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 161
(V161E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
| AlphaFold |
Q6ZQK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058033
AA Change: V161E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V161E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
5 |
238 |
9.1e-96 |
PFAM |
|
PH
|
267 |
363 |
1.73e-17 |
SMART |
|
ArfGap
|
399 |
520 |
2.23e-63 |
SMART |
|
ANK
|
632 |
661 |
6.71e-2 |
SMART |
|
ANK
|
665 |
694 |
3.04e0 |
SMART |
|
ANK
|
698 |
727 |
6.64e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229010
AA Change: V179E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230614
AA Change: V179E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231125
AA Change: V179E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,969,030 (GRCm39) |
T218A |
possibly damaging |
Het |
| Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,031,233 (GRCm39) |
I26T |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,719 (GRCm39) |
D265V |
probably benign |
Het |
| Asb15 |
G |
A |
6: 24,566,298 (GRCm39) |
R417H |
probably benign |
Het |
| Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
| Bace1 |
G |
T |
9: 45,767,282 (GRCm39) |
|
probably benign |
Het |
| Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
| Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
| Ces1b |
A |
C |
8: 93,798,583 (GRCm39) |
V201G |
probably damaging |
Het |
| Clk1 |
A |
G |
1: 58,458,882 (GRCm39) |
L133S |
unknown |
Het |
| Clstn3 |
G |
A |
6: 124,433,880 (GRCm39) |
L427F |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,207,781 (GRCm39) |
|
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
| Dtna |
T |
A |
18: 23,702,643 (GRCm39) |
V58D |
possibly damaging |
Het |
| Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
| Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,640,778 (GRCm39) |
M147V |
probably benign |
Het |
| Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
| F13a1 |
C |
T |
13: 37,076,910 (GRCm39) |
G593D |
probably benign |
Het |
| Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
| Fat4 |
C |
T |
3: 38,942,396 (GRCm39) |
R430C |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 24,842,832 (GRCm39) |
|
probably null |
Het |
| Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,279 (GRCm39) |
V268E |
probably benign |
Het |
| Igkv4-72 |
A |
T |
6: 69,203,980 (GRCm39) |
Y70* |
probably null |
Het |
| Kdm1b |
A |
C |
13: 47,217,705 (GRCm39) |
N388T |
probably benign |
Het |
| Klri2 |
A |
T |
6: 129,710,037 (GRCm39) |
W188R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
| Mfsd14b |
A |
G |
13: 65,222,855 (GRCm39) |
L265P |
probably damaging |
Het |
| Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
| Myo3b |
A |
C |
2: 70,257,305 (GRCm39) |
*1334C |
probably null |
Het |
| Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,490,548 (GRCm39) |
M393K |
probably damaging |
Het |
| Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,616,917 (GRCm39) |
C1787S |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,415,509 (GRCm39) |
K443E |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
| Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,853 (GRCm39) |
I34T |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,346,833 (GRCm39) |
I193T |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 92,007,355 (GRCm39) |
T412A |
probably benign |
Het |
| Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
| Sptlc1 |
A |
T |
13: 53,512,872 (GRCm39) |
I162N |
probably damaging |
Het |
| Ssrp1 |
C |
A |
2: 84,870,606 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,034,359 (GRCm39) |
N523S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,705 (GRCm39) |
S249P |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,043,819 (GRCm39) |
F411L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,768,079 (GRCm39) |
W3007R |
unknown |
Het |
| Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
| Vmn1r29 |
T |
A |
6: 58,284,577 (GRCm39) |
V99E |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,525,812 (GRCm39) |
F112L |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,235,507 (GRCm39) |
V636A |
possibly damaging |
Het |
| Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
probably damaging |
Het |
|
| Other mutations in Acap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Acap2
|
APN |
16 |
30,958,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Acap2
|
APN |
16 |
30,973,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01420:Acap2
|
APN |
16 |
30,920,637 (GRCm39) |
splice site |
probably benign |
|
|
IGL02064:Acap2
|
APN |
16 |
30,946,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Acap2
|
APN |
16 |
30,926,965 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02453:Acap2
|
APN |
16 |
30,950,075 (GRCm39) |
splice site |
probably null |
|
|
IGL02883:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03203:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03342:Acap2
|
APN |
16 |
30,924,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Acap2
|
UTSW |
16 |
30,926,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Acap2
|
UTSW |
16 |
30,934,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Acap2
|
UTSW |
16 |
30,923,754 (GRCm39) |
nonsense |
probably null |
|
|
R1594:Acap2
|
UTSW |
16 |
30,946,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1829:Acap2
|
UTSW |
16 |
30,929,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Acap2
|
UTSW |
16 |
30,936,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Acap2
|
UTSW |
16 |
30,952,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2023:Acap2
|
UTSW |
16 |
30,938,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2086:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Acap2
|
UTSW |
16 |
30,924,342 (GRCm39) |
missense |
probably benign |
|
|
R2177:Acap2
|
UTSW |
16 |
30,952,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2214:Acap2
|
UTSW |
16 |
30,926,946 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2392:Acap2
|
UTSW |
16 |
30,958,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2438:Acap2
|
UTSW |
16 |
30,936,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Acap2
|
UTSW |
16 |
30,934,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4207:Acap2
|
UTSW |
16 |
30,938,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4274:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
|
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5310:Acap2
|
UTSW |
16 |
30,952,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5345:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
|
R5388:Acap2
|
UTSW |
16 |
30,928,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Acap2
|
UTSW |
16 |
30,923,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Acap2
|
UTSW |
16 |
30,924,364 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6659:Acap2
|
UTSW |
16 |
30,950,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6977:Acap2
|
UTSW |
16 |
30,936,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Acap2
|
UTSW |
16 |
30,946,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7304:Acap2
|
UTSW |
16 |
30,926,934 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7310:Acap2
|
UTSW |
16 |
30,926,972 (GRCm39) |
nonsense |
probably null |
|
|
R7318:Acap2
|
UTSW |
16 |
30,946,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Acap2
|
UTSW |
16 |
30,973,385 (GRCm39) |
splice site |
probably null |
|
|
R7875:Acap2
|
UTSW |
16 |
30,958,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Acap2
|
UTSW |
16 |
30,958,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9026:Acap2
|
UTSW |
16 |
30,925,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9177:Acap2
|
UTSW |
16 |
30,955,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Acap2
|
UTSW |
16 |
30,920,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9329:Acap2
|
UTSW |
16 |
30,946,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9528:Acap2
|
UTSW |
16 |
30,929,908 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9762:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTTTGTGAAGCAGGCC -3'
(R):5'- CTGTAATCTGCAGGACCGAC -3'
Sequencing Primer
(F):5'- CTTTGTGAAGCAGGCCATAAGTTAGC -3'
(R):5'- TAATCTGCAGGACCGACCAGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation