Incidental Mutation 'IGL02686:Ampd2'
| ID |
303574 |
| 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 # |
IGL02686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107983811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 575
(D575E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
| AlphaFold |
Q9DBT5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078912
AA Change: D575E
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: D575E
| 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 benign
Transcript: ENSMUST00000102637
AA Change: D549E
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: D549E
| 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 benign
Transcript: ENSMUST00000102638
AA Change: D549E
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: D549E
| 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: ENSMUST00000153626
|
| 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
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
C |
T |
12: 81,468,448 (GRCm39) |
G58S |
possibly damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,458,110 (GRCm39) |
A304T |
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,975,865 (GRCm39) |
T110A |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 72,985,591 (GRCm39) |
Y668C |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,503,504 (GRCm39) |
E317K |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
| Bicc1 |
C |
A |
10: 70,779,190 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,721,840 (GRCm39) |
M559T |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,113,563 (GRCm39) |
I1245T |
probably benign |
Het |
| Bltp3b |
A |
T |
10: 89,641,055 (GRCm39) |
Q742L |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,369,155 (GRCm39) |
A294V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,604,723 (GRCm39) |
P1197S |
possibly damaging |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,398,784 (GRCm39) |
T241A |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,330,037 (GRCm39) |
I2615V |
possibly damaging |
Het |
| Cxcl12 |
A |
G |
6: 117,150,546 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,140,000 (GRCm39) |
D307G |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,525,412 (GRCm39) |
I909V |
probably damaging |
Het |
| Foxk1 |
T |
A |
5: 142,439,340 (GRCm39) |
S427T |
probably damaging |
Het |
| Gosr1 |
G |
A |
11: 76,641,688 (GRCm39) |
T130M |
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,806,649 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
C |
T |
3: 103,685,333 (GRCm39) |
S94N |
possibly damaging |
Het |
| Ints7 |
T |
C |
1: 191,318,704 (GRCm39) |
L147P |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,156,086 (GRCm39) |
D551G |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,426 (GRCm39) |
M170I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,093 (GRCm39) |
I157F |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,535,516 (GRCm39) |
|
probably benign |
Het |
| Ren1 |
A |
T |
1: 133,286,207 (GRCm39) |
N250I |
possibly damaging |
Het |
| Ripply2 |
A |
C |
9: 86,898,009 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,975 (GRCm39) |
|
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,575,064 (GRCm39) |
K51M |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,011,370 (GRCm39) |
|
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,608,726 (GRCm39) |
V42G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,481 (GRCm39) |
V323A |
probably damaging |
Het |
| Tdo2 |
T |
C |
3: 81,875,462 (GRCm39) |
N164S |
probably benign |
Het |
| Tefm |
T |
A |
11: 80,027,722 (GRCm39) |
L345F |
probably damaging |
Het |
| Tmem145 |
C |
A |
7: 25,014,150 (GRCm39) |
N407K |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,767 (GRCm39) |
N445S |
probably damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,362,585 (GRCm39) |
M733T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,533,526 (GRCm39) |
V477M |
possibly damaging |
Het |
| Zdhhc4 |
A |
G |
5: 143,306,146 (GRCm39) |
F194S |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,821,771 (GRCm39) |
S25T |
probably 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 |
|
|
IGL02174:Ampd2
|
APN |
3 |
107,987,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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