Incidental Mutation 'R9410:Ampd2'
| ID |
711739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R9410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107982590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 722
(V722E)
|
| 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: V748E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: V748E
| 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: V722E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: V722E
| 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: V722E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: V722E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
331 |
738 |
7.5e-125 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,869,703 (GRCm39) |
S772L |
probably benign |
Het |
| Appbp2 |
A |
T |
11: 85,106,067 (GRCm39) |
F83Y |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,273 (GRCm39) |
Y132F |
possibly damaging |
Het |
| Cnr1 |
A |
G |
4: 33,944,973 (GRCm39) |
T454A |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
A |
T |
1: 60,951,911 (GRCm39) |
T147S |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,677,101 (GRCm39) |
L152P |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,464,590 (GRCm39) |
I362F |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,324,050 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,386,948 (GRCm39) |
C760S |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,989 (GRCm39) |
V512E |
probably benign |
Het |
| Faiml |
C |
A |
9: 99,111,587 (GRCm39) |
K157N |
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,604 (GRCm39) |
T200I |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,430,432 (GRCm39) |
R201* |
probably null |
Het |
| Hcrtr1 |
A |
T |
4: 130,029,514 (GRCm39) |
L189Q |
probably damaging |
Het |
| Igkv4-62 |
T |
C |
6: 69,376,832 (GRCm39) |
T84A |
probably benign |
Het |
| Krtap2-4 |
C |
A |
11: 99,505,437 (GRCm39) |
R58L |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,833,987 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
T |
A |
12: 4,915,747 (GRCm39) |
I422F |
probably damaging |
Het |
| Mre11a |
G |
A |
9: 14,716,716 (GRCm39) |
V304M |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,023,496 (GRCm39) |
E19G |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,367,614 (GRCm39) |
Y339N |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,821 (GRCm39) |
V577A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
G |
A |
3: 49,699,615 (GRCm39) |
P949L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,413,995 (GRCm39) |
V210A |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,762,722 (GRCm39) |
M319T |
possibly damaging |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
G |
A |
7: 45,071,618 (GRCm39) |
Q422* |
probably null |
Het |
| Shroom1 |
C |
T |
11: 53,354,217 (GRCm39) |
R46C |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,805,732 (GRCm39) |
F161S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,311,676 (GRCm39) |
M468K |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,297,601 (GRCm39) |
F606L |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,797,038 (GRCm39) |
T120A |
probably benign |
Het |
| Sulf2 |
A |
C |
2: 165,936,444 (GRCm39) |
L174R |
|
Het |
| Sumf1 |
A |
C |
6: 108,150,363 (GRCm39) |
F156C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,032,396 (GRCm39) |
D708V |
probably damaging |
Het |
| Tmprss12 |
A |
C |
15: 100,190,622 (GRCm39) |
I331L |
possibly damaging |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,849 (GRCm39) |
C85G |
probably damaging |
Het |
| Trav10d |
C |
A |
14: 53,048,845 (GRCm39) |
Q79K |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,756 (GRCm39) |
Y291* |
probably null |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,915 (GRCm39) |
I796T |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,529,942 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,321,320 (GRCm39) |
L40Q |
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 |
|
|
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 |
|
Z1176:Ampd2
|
UTSW |
3 |
107,987,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTGGCACGTTGGTAC -3'
(R):5'- GCTGGAGCTTAGCAACTGTTAG -3'
Sequencing Primer
(F):5'- TACGGCGGATATCATTGCC -3'
(R):5'- GGAGCTTAGCAACTGTTAGCTAAGTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation