Incidental Mutation 'R5180:Ampd2'
| ID |
399694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
042760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R5180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107986358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 273
(Q273K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
| AlphaFold |
Q9DBT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078912
AA Change: Q299K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: Q299K
| 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: Q273K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: Q273K
| 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: Q273K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: Q273K
| 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: ENSMUST00000149479
|
| 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: ENSMUST00000153626
|
| Meta Mutation Damage Score |
0.0988 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (60/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ankrd35 |
C |
A |
3: 96,587,789 (GRCm39) |
H109Q |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
| Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
| Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
| Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
| Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
| Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
| Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
| Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
| Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
| Pde4d |
A |
G |
13: 109,877,007 (GRCm39) |
N73S |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
| Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
| Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
| Smarcc2 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
10: 128,323,231 (GRCm39) |
|
probably benign |
Het |
| Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
A |
3: 54,616,506 (GRCm39) |
H254Q |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,509,216 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCTGAAGACAGGAGCAC -3'
(R):5'- ATGAGCACTGTGAGCCAAG -3'
Sequencing Primer
(F):5'- TTAGCTGAAGACAGGAGCACAGAAG -3'
(R):5'- TGTGGTGCACGTCTACAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation