Incidental Mutation 'R7938:Ampd2'
| ID |
648852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
045984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7938 (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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
T |
G |
7: 19,490,738 (GRCm39) |
E586D |
probably benign |
Het |
| Bmp7 |
A |
C |
2: 172,721,283 (GRCm39) |
I264S |
probably benign |
Het |
| Casz1 |
G |
A |
4: 149,028,943 (GRCm39) |
M1129I |
probably benign |
Het |
| Ccdc59 |
T |
A |
10: 105,677,455 (GRCm39) |
N31K |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,887,376 (GRCm39) |
Y607C |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,597 (GRCm39) |
E639G |
probably benign |
Het |
| Coch |
T |
A |
12: 51,643,366 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
C |
9: 105,657,883 (GRCm39) |
Y776* |
probably null |
Het |
| Cyp1a1 |
T |
G |
9: 57,609,073 (GRCm39) |
L318R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,666 (GRCm39) |
Y233F |
probably benign |
Het |
| Dgkz |
G |
T |
2: 91,795,817 (GRCm39) |
R42S |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,673,218 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,163,922 (GRCm39) |
N3111S |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,260,246 (GRCm39) |
S768P |
probably benign |
Het |
| Gm45861 |
T |
A |
8: 28,071,990 (GRCm39) |
N1269K |
unknown |
Het |
| Gpr12 |
T |
A |
5: 146,520,094 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Hace1 |
C |
T |
10: 45,562,792 (GRCm39) |
P769L |
probably benign |
Het |
| Hapln1 |
G |
A |
13: 89,753,347 (GRCm39) |
R171H |
probably damaging |
Het |
| Hlx |
T |
G |
1: 184,464,125 (GRCm39) |
T72P |
probably benign |
Het |
| Iqcm |
G |
T |
8: 76,304,596 (GRCm39) |
C119F |
probably benign |
Het |
| Katna1 |
G |
T |
10: 7,637,075 (GRCm39) |
A409S |
probably benign |
Het |
| Kcnip2 |
A |
T |
19: 45,782,729 (GRCm39) |
I204N |
probably damaging |
Het |
| Kel |
G |
T |
6: 41,675,310 (GRCm39) |
Q314K |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,536,444 (GRCm39) |
V5A |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,607,896 (GRCm39) |
C282S |
probably benign |
Het |
| Lyar |
A |
G |
5: 38,388,295 (GRCm39) |
T274A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,415,959 (GRCm39) |
H306R |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,947,082 (GRCm39) |
Y120F |
probably benign |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,240 (GRCm39) |
T193A |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,583,327 (GRCm39) |
W8R |
unknown |
Het |
| Nfasc |
A |
G |
1: 132,533,269 (GRCm39) |
V644A |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,842,855 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,141,866 (GRCm39) |
K393E |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,590,991 (GRCm39) |
M107L |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,173 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,325 (GRCm39) |
Y258* |
probably null |
Het |
| Orc4 |
A |
T |
2: 48,800,203 (GRCm39) |
V315E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,443,549 (GRCm39) |
|
probably null |
Het |
| Pif1 |
A |
G |
9: 65,502,073 (GRCm39) |
D635G |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,310,648 (GRCm39) |
T52A |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,180 (GRCm39) |
D301V |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,619,312 (GRCm39) |
V410G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,155,870 (GRCm39) |
N2207K |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,327,810 (GRCm39) |
V180A |
probably benign |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rsph3a |
G |
T |
17: 8,165,050 (GRCm39) |
E137* |
probably null |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Sqle |
C |
A |
15: 59,196,315 (GRCm39) |
H369Q |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,057,016 (GRCm39) |
D250E |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,097,567 (GRCm39) |
C251* |
probably null |
Het |
| Tdrd9 |
A |
T |
12: 111,997,649 (GRCm39) |
N713Y |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,717 (GRCm39) |
S202P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trav8-1 |
T |
G |
14: 53,707,688 (GRCm39) |
D109E |
possibly damaging |
Het |
| Trem2 |
T |
A |
17: 48,658,777 (GRCm39) |
S181T |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,037,863 (GRCm39) |
N199S |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,111,712 (GRCm39) |
M227T |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,296,519 (GRCm39) |
I448F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,132 (GRCm39) |
L697M |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,300 (GRCm39) |
D613G |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,622,304 (GRCm39) |
Y11C |
unknown |
Het |
| Zw10 |
T |
A |
9: 48,982,933 (GRCm39) |
D521E |
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 |
|
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 |
|
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'- AGGGAACATCCAGCCTTCTC -3'
(R):5'- TTCCTGAAGACAGACAGCG -3'
Sequencing Primer
(F):5'- TCTGGTCCCAGAGAATCAGTG -3'
(R):5'- CAGCGACTCAGACTTACAGTAAGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation