Incidental Mutation 'IGL02174:Ampd2'
| ID |
283017 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL02174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107987601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 108
(D108G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
| AlphaFold |
Q9DBT5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078912
AA Change: D134G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: D134G
| 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: D108G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: D108G
| 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: D108G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: D108G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,738,154 (GRCm39) |
I1199V |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,575,783 (GRCm39) |
T4861I |
probably benign |
Het |
| Azin1 |
A |
G |
15: 38,493,730 (GRCm39) |
F298L |
probably benign |
Het |
| Bag1 |
T |
A |
4: 40,941,555 (GRCm39) |
E123D |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,339 (GRCm39) |
E330G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,938 (GRCm39) |
K435E |
probably benign |
Het |
| Clip2 |
T |
G |
5: 134,523,118 (GRCm39) |
K943T |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,185,415 (GRCm39) |
I3527V |
possibly damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,341,384 (GRCm39) |
R244C |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,001,544 (GRCm39) |
A284E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,041 (GRCm39) |
L279Q |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,009,856 (GRCm39) |
L497P |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,072 (GRCm39) |
I233F |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,926,085 (GRCm39) |
G720* |
probably null |
Het |
| Emc1 |
T |
C |
4: 139,098,979 (GRCm39) |
Y821H |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,948,003 (GRCm39) |
R519W |
probably damaging |
Het |
| Gamt |
A |
T |
10: 80,094,230 (GRCm39) |
V227E |
possibly damaging |
Het |
| Habp2 |
A |
G |
19: 56,300,169 (GRCm39) |
Q206R |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,990,105 (GRCm39) |
I90T |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,911,858 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
C |
11: 34,000,966 (GRCm39) |
|
probably benign |
Het |
| Lyrm2 |
A |
G |
4: 32,800,649 (GRCm39) |
I29V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,385,587 (GRCm39) |
D1168G |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,828,953 (GRCm39) |
S753P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,337,204 (GRCm39) |
E367G |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,139,206 (GRCm39) |
A255V |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,683 (GRCm39) |
P148S |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,023,712 (GRCm39) |
F222Y |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,442 (GRCm39) |
M284L |
possibly damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,438 (GRCm39) |
Y239C |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,081 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,589,188 (GRCm39) |
C1679Y |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,551 (GRCm39) |
I508N |
probably damaging |
Het |
| Pkd2l1 |
G |
A |
19: 44,145,707 (GRCm39) |
T172I |
probably benign |
Het |
| Pld5 |
A |
G |
1: 176,102,310 (GRCm39) |
V44A |
possibly damaging |
Het |
| Prss44 |
T |
C |
9: 110,646,199 (GRCm39) |
W309R |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,301,237 (GRCm39) |
N88K |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,359,768 (GRCm39) |
I102M |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,695,606 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
C |
A |
5: 119,813,649 (GRCm39) |
Y228* |
probably null |
Het |
| Tcf15 |
G |
T |
2: 151,986,065 (GRCm39) |
|
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,578,003 (GRCm39) |
S94P |
possibly damaging |
Het |
| Trmt10b |
A |
T |
4: 45,308,508 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,063 (GRCm39) |
G317* |
probably null |
Het |
| Urod |
T |
A |
4: 116,847,479 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,532,358 (GRCm39) |
R52L |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,210,643 (GRCm39) |
Q232H |
probably damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,316,872 (GRCm39) |
P228Q |
probably damaging |
Het |
| Zfp764l1 |
G |
A |
7: 126,991,525 (GRCm39) |
T154I |
possibly damaging |
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 |
|
|
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 |
|
|
R5507:Ampd2
|
UTSW |
3 |
107,984,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation