Incidental Mutation 'R0271:Ampd2'
| ID |
35288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
038497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R0271 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 107994032 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
| C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
| Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
| Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
| Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
| Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
| Gm1110 |
A |
G |
9: 26,831,962 (GRCm39) |
F63S |
probably damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,747 (GRCm39) |
M274L |
probably benign |
Het |
| Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
| Nes |
G |
A |
3: 87,885,949 (GRCm39) |
E1359K |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
| Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
| Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
| Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,496,477 (GRCm39) |
Y252N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
| Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
| Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
| Tpx2 |
A |
G |
2: 152,709,287 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
| Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
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 |
|
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 |
|
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'- TACGAAAGTCTGCACAGCGAGG -3'
(R):5'- TCTGCTTGAAATGGATTCTGGGACC -3'
Sequencing Primer
(F):5'- TTCAGCGGCCAGACTGAC -3'
(R):5'- atttaccttcagtcctcagtaactc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation