Incidental Mutation 'R5955:Ampd2'
| ID |
501665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R5955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107987088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 178
(V178A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078912]
[ENSMUST00000102637]
[ENSMUST00000102638]
|
| AlphaFold |
Q9DBT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078912
AA Change: V178A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: V178A
| 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: V152A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: V152A
| 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: V152A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: V152A
| 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: ENSMUST00000106667
|
| SMART Domains |
Protein: ENSMUSP00000102278
Gene: ENSMUSG00000027889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
1 |
42 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153626
|
| 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: ENSMUST00000149479
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
| Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,889 (GRCm39) |
F200L |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,248,843 (GRCm39) |
N569K |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
| Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,969,055 (GRCm39) |
I495V |
probably benign |
Het |
| Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
| Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
| Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
| Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
| Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
| Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
| Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
| Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
| Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
| Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
| Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
| Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,153 (GRCm39) |
Y590H |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,343,129 (GRCm39) |
N426S |
probably benign |
Het |
| Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
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 |
|
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'- TAGACACCCAGGACAGTTGG -3'
(R):5'- CTGTGGGCTCACTGATTCTCTG -3'
Sequencing Primer
(F):5'- CCACCAGCAGATACAGGGG -3'
(R):5'- CACTGATTCTCTGGGACCAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation