Incidental Mutation 'R5507:Ampd2'
| ID |
430965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107984929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
| AlphaFold |
Q9DBT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078912
AA Change: V405A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: V405A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
357 |
764 |
3.3e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102637
AA Change: V379A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: V379A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
331 |
738 |
7.5e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102638
AA Change: V379A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: V379A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
331 |
738 |
7.5e-125 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106667
|
| SMART Domains |
Protein: ENSMUSP00000102278
Gene: ENSMUSG00000027889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
1 |
42 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136712
|
| SMART Domains |
Protein: ENSMUSP00000122431
Gene: ENSMUSG00000027889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
97 |
165 |
4.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153626
|
| Meta Mutation Damage Score |
0.8125 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit proteinuria, tubules filled with protein casts and podocyte process effacement. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
probably benign |
Het |
|
| Other mutations in Ampd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ampd2
|
APN |
3 |
107,984,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Ampd2
|
APN |
3 |
107,987,660 (GRCm39) |
splice site |
probably benign |
|
|
IGL02174:Ampd2
|
APN |
3 |
107,987,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02686:Ampd2
|
APN |
3 |
107,983,811 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03326:Ampd2
|
APN |
3 |
107,986,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03493:Ampd2
|
APN |
3 |
107,982,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4186:Ampd2
|
UTSW |
3 |
107,988,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8562:Ampd2
|
UTSW |
3 |
107,988,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4445001:Ampd2
|
UTSW |
3 |
107,982,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Ampd2
|
UTSW |
3 |
107,994,032 (GRCm39) |
unclassified |
probably benign |
|
|
R0835:Ampd2
|
UTSW |
3 |
107,983,818 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0975:Ampd2
|
UTSW |
3 |
107,984,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Ampd2
|
UTSW |
3 |
107,983,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Ampd2
|
UTSW |
3 |
107,987,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1466:Ampd2
|
UTSW |
3 |
107,987,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1584:Ampd2
|
UTSW |
3 |
107,987,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2034:Ampd2
|
UTSW |
3 |
107,984,679 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2164:Ampd2
|
UTSW |
3 |
107,992,685 (GRCm39) |
intron |
probably benign |
|
|
R3040:Ampd2
|
UTSW |
3 |
107,983,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Ampd2
|
UTSW |
3 |
107,993,803 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4329:Ampd2
|
UTSW |
3 |
107,985,103 (GRCm39) |
intron |
probably benign |
|
|
R4425:Ampd2
|
UTSW |
3 |
107,994,052 (GRCm39) |
unclassified |
probably benign |
|
|
R5073:Ampd2
|
UTSW |
3 |
107,986,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5074:Ampd2
|
UTSW |
3 |
107,986,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5180:Ampd2
|
UTSW |
3 |
107,986,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Ampd2
|
UTSW |
3 |
107,986,865 (GRCm39) |
intron |
probably benign |
|
|
R5513:Ampd2
|
UTSW |
3 |
107,982,983 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5955:Ampd2
|
UTSW |
3 |
107,987,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Ampd2
|
UTSW |
3 |
107,986,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7744:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R7745:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R7815:Ampd2
|
UTSW |
3 |
107,982,247 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7938:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R7939:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R7941:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R7942:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8309:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8312:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8503:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8518:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8724:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8743:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8745:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8753:Ampd2
|
UTSW |
3 |
107,987,432 (GRCm39) |
missense |
probably benign |
|
|
R8769:Ampd2
|
UTSW |
3 |
107,982,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9339:Ampd2
|
UTSW |
3 |
107,987,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9410:Ampd2
|
UTSW |
3 |
107,982,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ampd2
|
UTSW |
3 |
107,987,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTCTCGGAGAACAGACTC -3'
(R):5'- CCTACCCTTTGTTGGACACAG -3'
Sequencing Primer
(F):5'- GAGAACAGACTCCCCAATAGG -3'
(R):5'- TTTGTTGGACACAGCAGCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation