Incidental Mutation 'R3052:Ampd2'
ID |
264981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd2
|
Ensembl Gene |
ENSMUSG00000027889 |
Gene Name |
adenosine monophosphate deaminase 2 |
Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
MMRRC Submission |
040561-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R3052 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
C to T
at 107993803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
AlphaFold |
Q9DBT5 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078912
|
SMART Domains |
Protein: ENSMUSP00000077946 Gene: ENSMUSG00000027889
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
|
SMART Domains |
Protein: ENSMUSP00000099697 Gene: ENSMUSG00000027889
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
|
SMART Domains |
Protein: ENSMUSP00000099698 Gene: ENSMUSG00000027889
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: 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186471
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (38/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,686,179 (GRCm39) |
E668G |
probably benign |
Het |
Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,623,938 (GRCm39) |
S80P |
probably damaging |
Het |
Banp |
G |
A |
8: 122,732,426 (GRCm39) |
|
probably null |
Het |
Capn2 |
G |
A |
1: 182,315,337 (GRCm39) |
T306M |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,913,150 (GRCm39) |
S229C |
probably damaging |
Het |
Cep250 |
G |
T |
2: 155,832,968 (GRCm39) |
S1630I |
probably damaging |
Het |
Ces1g |
C |
A |
8: 94,061,676 (GRCm39) |
V77L |
possibly damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,729,852 (GRCm39) |
H1211L |
possibly damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
Gm10384 |
A |
G |
15: 36,871,996 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
C |
1: 59,672,299 (GRCm39) |
|
probably benign |
Het |
Ift88 |
C |
T |
14: 57,668,025 (GRCm39) |
P9S |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,845,635 (GRCm39) |
L172P |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,739,613 (GRCm39) |
I119F |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,462,153 (GRCm39) |
E1428G |
possibly damaging |
Het |
Or12e7 |
C |
A |
2: 87,288,247 (GRCm39) |
T246K |
probably damaging |
Het |
Phf13 |
T |
C |
4: 152,076,820 (GRCm39) |
D124G |
possibly damaging |
Het |
Ppp3ca |
T |
G |
3: 136,503,605 (GRCm39) |
S59R |
probably benign |
Het |
Rsu1 |
A |
G |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,033,370 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
Sc5d |
G |
T |
9: 42,166,866 (GRCm39) |
N224K |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
Ugt3a1 |
G |
T |
15: 9,365,374 (GRCm39) |
W329L |
probably damaging |
Het |
Unk |
T |
C |
11: 115,940,949 (GRCm39) |
Y237H |
probably benign |
Het |
Vcam1 |
A |
C |
3: 115,918,079 (GRCm39) |
|
probably null |
Het |
Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
Zc3h12c |
A |
T |
9: 52,055,356 (GRCm39) |
L132Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGAAAGTCTGCACAGCGAG -3'
(R):5'- CAGGGCTTCTGCTTGAAATGG -3'
Sequencing Primer
(F):5'- TCTGCACAGCGAGGGAGC -3'
(R):5'- AAGGGGATTTACCTTCAGTCCTCAG -3'
|
Posted On |
2015-02-05 |