Incidental Mutation 'R8743:Ampd2'
| ID |
663330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
068588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R8743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,264 (GRCm39) |
C468S |
probably damaging |
Het |
| Adamts7 |
G |
A |
9: 90,077,296 (GRCm39) |
R1321H |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,792 (GRCm39) |
V188A |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,564,423 (GRCm39) |
N323D |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,638,876 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,667,882 (GRCm39) |
|
probably null |
Het |
| Armc1 |
C |
T |
3: 19,211,700 (GRCm39) |
C40Y |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,214,928 (GRCm39) |
V309F |
probably damaging |
Het |
| Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,033,286 (GRCm39) |
L1237P |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,702,020 (GRCm39) |
E19G |
probably damaging |
Het |
| Ccr2 |
A |
C |
9: 123,906,131 (GRCm39) |
Y137S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,046,323 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
A |
4: 152,450,862 (GRCm39) |
V662E |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,057,220 (GRCm39) |
D544G |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Coro6 |
T |
A |
11: 77,357,265 (GRCm39) |
I158N |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,642,992 (GRCm39) |
S307G |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,081,587 (GRCm39) |
M583K |
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,223,252 (GRCm39) |
S1170* |
probably null |
Het |
| Dusp16 |
A |
T |
6: 134,694,933 (GRCm39) |
S633T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,572,123 (GRCm39) |
E739G |
probably damaging |
Het |
| Fam193a |
T |
A |
5: 34,577,501 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
A |
3: 38,942,592 (GRCm39) |
S495N |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,675,409 (GRCm39) |
Y556C |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,814 (GRCm39) |
T633S |
|
Het |
| Gc |
A |
T |
5: 89,591,311 (GRCm39) |
D142E |
probably benign |
Het |
| Gda |
A |
T |
19: 21,377,952 (GRCm39) |
F369Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,968,103 (GRCm39) |
S349R |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,612,901 (GRCm39) |
L351P |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,764,284 (GRCm39) |
Y323F |
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,598,858 (GRCm39) |
N589D |
probably damaging |
Het |
| Hsd17b3 |
A |
C |
13: 64,210,712 (GRCm39) |
D214E |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,022 (GRCm39) |
D1459G |
possibly damaging |
Het |
| Lad1 |
G |
A |
1: 135,758,933 (GRCm39) |
R465H |
probably benign |
Het |
| Lcmt1 |
T |
A |
7: 122,999,691 (GRCm39) |
D46E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,741,427 (GRCm39) |
R796L |
probably benign |
Het |
| Nat8l |
T |
A |
5: 34,154,510 (GRCm39) |
L108Q |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,118,172 (GRCm39) |
V632A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,636,387 (GRCm39) |
E496G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,065 (GRCm39) |
D258G |
probably damaging |
Het |
| Or8b12 |
G |
T |
9: 37,658,174 (GRCm39) |
C248F |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,738,995 (GRCm39) |
I3F |
probably benign |
Het |
| Papln |
A |
G |
12: 83,829,764 (GRCm39) |
K962E |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,372 (GRCm39) |
M618K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,580 (GRCm39) |
D1066G |
|
Het |
| Phip |
A |
T |
9: 82,809,140 (GRCm39) |
M446K |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,973,318 (GRCm39) |
K380R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,000,017 (GRCm39) |
T198A |
unknown |
Het |
| Ppa1 |
C |
A |
10: 61,496,758 (GRCm39) |
A82E |
possibly damaging |
Het |
| Prune2 |
A |
C |
19: 17,096,920 (GRCm39) |
D808A |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,828,467 (GRCm39) |
L1829R |
probably damaging |
Het |
| Rtp4 |
A |
C |
16: 23,431,866 (GRCm39) |
K133Q |
possibly damaging |
Het |
| Scaf11 |
C |
T |
15: 96,313,669 (GRCm39) |
A1371T |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,931 (GRCm39) |
H267L |
probably benign |
Het |
| Slc47a2 |
T |
G |
11: 61,233,588 (GRCm39) |
D6A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,765,255 (GRCm39) |
V329D |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,859 (GRCm39) |
S377P |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,030 (GRCm39) |
H121R |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,369 (GRCm39) |
Y303F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,418 (GRCm39) |
D407G |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,090,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Upb1 |
A |
G |
10: 75,275,710 (GRCm39) |
Y365C |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,317,247 (GRCm39) |
S164T |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 33,824,979 (GRCm39) |
G202R |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,309,084 (GRCm39) |
C770Y |
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 |
|
|
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'- CTGGTCCCAGAGAATCAGTGAG -3'
(R):5'- TCTTCGAGCCAAGCAAGATTTC -3'
Sequencing Primer
(F):5'- GAGAATCAGTGAGCCCACAGC -3'
(R):5'- TTTCCTGAAGACAGACAGCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation