Incidental Mutation 'R8769:Ampd2'
| ID |
664276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
068624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R8769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107982613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 714
(M714I)
|
| 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: M740I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: M740I
| 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: M714I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: M714I
| 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: M714I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: M714I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
331 |
738 |
7.5e-125 |
PFAM |
|
| Meta Mutation Damage Score |
0.2903 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (57/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,589 (GRCm39) |
N289K |
unknown |
Het |
| Adgrl2 |
T |
C |
3: 148,522,917 (GRCm39) |
I436V |
|
Het |
| Agbl3 |
C |
T |
6: 34,834,549 (GRCm39) |
S911L |
probably damaging |
Het |
| Asb6 |
T |
C |
2: 30,718,143 (GRCm39) |
D19G |
possibly damaging |
Het |
| Atosa |
C |
A |
9: 74,933,107 (GRCm39) |
L1025I |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,061,227 (GRCm39) |
Q298R |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,420,263 (GRCm39) |
M1223K |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,096 (GRCm39) |
F144I |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,503,105 (GRCm39) |
F32L |
|
Het |
| Clhc1 |
G |
A |
11: 29,511,401 (GRCm39) |
E293K |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,571 (GRCm39) |
D195E |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,376,003 (GRCm39) |
D1512V |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,832,828 (GRCm39) |
T1372A |
possibly damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,857,208 (GRCm39) |
D490E |
possibly damaging |
Het |
| E4f1 |
C |
T |
17: 24,663,574 (GRCm39) |
V626M |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,634,678 (GRCm39) |
R232C |
probably damaging |
Het |
| Eppk1 |
A |
G |
15: 75,994,895 (GRCm39) |
I662T |
probably benign |
Het |
| G3bp2 |
C |
T |
5: 92,231,356 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
T |
C |
4: 125,550,166 (GRCm39) |
L397P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,419,936 (GRCm39) |
N627S |
possibly damaging |
Het |
| Hecw2 |
C |
T |
1: 53,952,507 (GRCm39) |
V909I |
probably benign |
Het |
| Hsd17b12 |
A |
T |
2: 93,945,397 (GRCm39) |
M75K |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,977,633 (GRCm39) |
T809I |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,655,381 (GRCm39) |
S609P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,666 (GRCm39) |
C234S |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,536 (GRCm39) |
L1963P |
probably benign |
Het |
| Lypd3 |
C |
A |
7: 24,337,932 (GRCm39) |
H99Q |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,751,390 (GRCm39) |
H4593Q |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,297,126 (GRCm39) |
S325G |
probably benign |
Het |
| Muc5ac |
G |
A |
7: 141,372,609 (GRCm39) |
G3452R |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,612,696 (GRCm39) |
D884E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,370 (GRCm39) |
H260Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,408,883 (GRCm39) |
L519P |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,194 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,307 (GRCm39) |
C177* |
probably null |
Het |
| Or5w1b |
A |
T |
2: 87,475,960 (GRCm39) |
F169Y |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,854,260 (GRCm39) |
K184R |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp6r1 |
A |
T |
7: 4,644,289 (GRCm39) |
V379E |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,842,286 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,442 (GRCm39) |
E1982G |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,509,838 (GRCm39) |
T88A |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,979,212 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,177 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
C |
T |
19: 7,670,086 (GRCm39) |
R256Q |
possibly damaging |
Het |
| Slc43a2 |
G |
T |
11: 75,434,192 (GRCm39) |
|
probably null |
Het |
| Smarcd3 |
T |
C |
5: 24,803,792 (GRCm39) |
M30V |
probably benign |
Het |
| Tes3-ps |
T |
A |
13: 49,647,356 (GRCm39) |
D77E |
probably benign |
Het |
| Thbs3 |
G |
A |
3: 89,131,937 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,768,128 (GRCm39) |
N790K |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,405,816 (GRCm39) |
N492K |
possibly damaging |
Het |
| Ttc39c |
T |
C |
18: 12,828,545 (GRCm39) |
L235P |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,278,360 (GRCm39) |
|
probably benign |
Het |
| Whamm |
A |
T |
7: 81,234,933 (GRCm39) |
K333* |
probably null |
Het |
| Ydjc |
A |
G |
16: 16,968,732 (GRCm39) |
I224V |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,313,416 (GRCm39) |
D210N |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,127 (GRCm39) |
E55K |
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 |
|
|
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 |
|
|
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 |
|
|
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'- CTTTTCACCTGCAGGGGTATAGG -3'
(R):5'- TTCACCAAGGTCAGACCCAG -3'
Sequencing Primer
(F):5'- CACCTGCAGGGGTATAGGTAACAG -3'
(R):5'- CCAAGGGCAGGTATCTGGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation