Incidental Mutation 'R8312:Ampd2'
ID |
641423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd2
|
Ensembl Gene |
ENSMUSG00000027889 |
Gene Name |
adenosine monophosphate deaminase 2 |
Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
MMRRC Submission |
067718-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R8312 (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 A
at 107987432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 134
(V134L)
|
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: V160L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077946 Gene: ENSMUSG00000027889 AA Change: V160L
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: V134L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099697 Gene: ENSMUSG00000027889 AA Change: V134L
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: V134L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099698 Gene: ENSMUSG00000027889 AA Change: V134L
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,662,190 (GRCm39) |
R23G |
probably damaging |
Het |
Abraxas2 |
A |
G |
7: 132,478,329 (GRCm39) |
Y163C |
probably damaging |
Het |
Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
Agbl5 |
A |
G |
5: 31,051,850 (GRCm39) |
E556G |
probably damaging |
Het |
Arih2 |
A |
G |
9: 108,521,473 (GRCm39) |
S2P |
probably damaging |
Het |
C87436 |
T |
A |
6: 86,434,813 (GRCm39) |
L387Q |
probably damaging |
Het |
Card9 |
A |
T |
2: 26,247,801 (GRCm39) |
Y183* |
probably null |
Het |
Cdk14 |
T |
C |
5: 4,944,141 (GRCm39) |
D394G |
probably benign |
Het |
Cep135 |
C |
T |
5: 76,784,746 (GRCm39) |
S947L |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,121 (GRCm39) |
K505E |
probably benign |
Het |
Cnot4 |
T |
A |
6: 35,000,076 (GRCm39) |
D708V |
probably damaging |
Het |
Col16a1 |
T |
A |
4: 129,948,244 (GRCm39) |
L281M |
unknown |
Het |
Col6a3 |
G |
T |
1: 90,741,412 (GRCm39) |
D673E |
possibly damaging |
Het |
Ctdnep1 |
G |
A |
11: 69,879,527 (GRCm39) |
S150N |
probably benign |
Het |
Fanca |
T |
A |
8: 123,996,549 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,736,050 (GRCm39) |
N548K |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,304,812 (GRCm39) |
M83V |
probably benign |
Het |
Gbp2b |
C |
A |
3: 142,304,815 (GRCm39) |
P84T |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,795,842 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,511,587 (GRCm39) |
|
probably benign |
Het |
Grn |
A |
C |
11: 102,327,073 (GRCm39) |
K557T |
probably damaging |
Het |
Hapln1 |
C |
T |
13: 89,749,563 (GRCm39) |
A36V |
probably benign |
Het |
Heg1 |
C |
T |
16: 33,547,045 (GRCm39) |
R635W |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,308,653 (GRCm39) |
Q298K |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,614,515 (GRCm39) |
I1297T |
probably damaging |
Het |
Hp1bp3 |
T |
A |
4: 137,950,750 (GRCm39) |
|
probably benign |
Het |
Htr4 |
C |
G |
18: 62,570,549 (GRCm39) |
F201L |
probably damaging |
Het |
Insrr |
C |
G |
3: 87,707,791 (GRCm39) |
Q78E |
possibly damaging |
Het |
Itga6 |
A |
T |
2: 71,686,297 (GRCm39) |
M1072L |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,675,216 (GRCm39) |
|
probably null |
Het |
Klhl7 |
T |
C |
5: 24,339,965 (GRCm39) |
I149T |
probably damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Mag |
T |
C |
7: 30,610,894 (GRCm39) |
Y116C |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,287,683 (GRCm39) |
S131P |
probably benign |
Het |
Mlec |
C |
A |
5: 115,288,266 (GRCm39) |
|
probably null |
Het |
Mrap2 |
G |
A |
9: 87,051,712 (GRCm39) |
|
probably null |
Het |
Myo5b |
A |
G |
18: 74,867,033 (GRCm39) |
K1395E |
probably damaging |
Het |
Nipa2 |
G |
A |
7: 55,583,050 (GRCm39) |
Q232* |
probably null |
Het |
Nsd3 |
C |
T |
8: 26,153,268 (GRCm39) |
T536M |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,274,632 (GRCm39) |
N56S |
probably benign |
Het |
Or10p22 |
A |
G |
10: 128,826,347 (GRCm39) |
T189A |
probably benign |
Het |
Or13c7 |
A |
T |
4: 43,854,461 (GRCm39) |
I51F |
probably benign |
Het |
Or2m13 |
T |
C |
16: 19,225,987 (GRCm39) |
M260V |
probably benign |
Het |
Pax3 |
C |
T |
1: 78,172,006 (GRCm39) |
R68Q |
probably damaging |
Het |
Pcnx2 |
G |
T |
8: 126,489,589 (GRCm39) |
H1668Q |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,786,102 (GRCm39) |
S463G |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,485,829 (GRCm39) |
T871M |
probably damaging |
Het |
Prdx1 |
A |
G |
4: 116,556,398 (GRCm39) |
D182G |
possibly damaging |
Het |
Prkch |
T |
A |
12: 73,807,358 (GRCm39) |
F593I |
noncoding transcript |
Het |
Psrc1 |
C |
T |
3: 108,293,673 (GRCm39) |
P194L |
probably benign |
Het |
Ptp4a2 |
A |
T |
4: 129,733,427 (GRCm39) |
I18L |
probably benign |
Het |
Samd10 |
A |
T |
2: 181,238,668 (GRCm39) |
L153H |
probably damaging |
Het |
Shc3 |
T |
G |
13: 51,596,754 (GRCm39) |
H423P |
probably damaging |
Het |
Siae |
A |
T |
9: 37,557,593 (GRCm39) |
I467F |
|
Het |
Slc27a5 |
C |
T |
7: 12,725,214 (GRCm39) |
R411Q |
probably damaging |
Het |
Spata24 |
A |
G |
18: 35,793,861 (GRCm39) |
I56T |
probably benign |
Het |
Spns3 |
G |
A |
11: 72,390,534 (GRCm39) |
T407M |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,067,777 (GRCm39) |
C2068Y |
probably damaging |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,471,181 (GRCm39) |
D479G |
|
Het |
Trhde |
T |
C |
10: 114,249,192 (GRCm39) |
Y858C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,781,992 (GRCm39) |
R1057C |
unknown |
Het |
Tulp4 |
G |
T |
17: 6,257,333 (GRCm39) |
|
probably null |
Het |
Tyk2 |
T |
C |
9: 21,026,945 (GRCm39) |
T613A |
possibly damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,390,799 (GRCm39) |
K356R |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,841 (GRCm39) |
V159A |
noncoding transcript |
Het |
Vps35 |
A |
G |
8: 86,001,498 (GRCm39) |
V440A |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,627 (GRCm39) |
N1136S |
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 |
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 |
|
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'- AGAATCAGTGAGCCCACAGC -3'
(R):5'- CCAGATATTCTTCTTCGAGCCAAG -3'
Sequencing Primer
(F):5'- AGTGAGCCCACAGCCTCTG -3'
(R):5'- TTCGAGCCAAGCAAGATTTCCTG -3'
|
Posted On |
2020-07-28 |