Incidental Mutation 'R2164:Ampd2'
ID |
235333 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd2
|
Ensembl Gene |
ENSMUSG00000027889 |
Gene Name |
adenosine monophosphate deaminase 2 |
Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
MMRRC Submission |
040167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R2164 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107981378-107993967 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 107992685 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: ENSMUST00000133129
|
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
CTGTAGGAAATCTTCAATGT |
CTGT |
11: 110,101,019 (GRCm39) |
|
probably null |
Het |
Adcy8 |
C |
T |
15: 64,792,783 (GRCm39) |
G58S |
probably benign |
Het |
Adgra2 |
T |
A |
8: 27,604,232 (GRCm39) |
L24* |
probably null |
Het |
Ankrd26 |
T |
G |
6: 118,502,752 (GRCm39) |
E806A |
probably damaging |
Het |
Apol9b |
A |
G |
15: 77,619,639 (GRCm39) |
D145G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,726 (GRCm39) |
M1535K |
probably benign |
Het |
Atf6 |
A |
G |
1: 170,622,304 (GRCm39) |
M439T |
probably damaging |
Het |
B3glct |
A |
T |
5: 149,677,621 (GRCm39) |
M417L |
probably damaging |
Het |
Cep192 |
A |
T |
18: 67,953,431 (GRCm39) |
T483S |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,354,657 (GRCm39) |
E914K |
probably damaging |
Het |
Chst15 |
C |
T |
7: 131,872,114 (GRCm39) |
A56T |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,143,661 (GRCm39) |
T450S |
probably benign |
Het |
Cpsf2 |
A |
G |
12: 101,951,594 (GRCm39) |
N177S |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Ctc1 |
C |
T |
11: 68,926,441 (GRCm39) |
A859V |
possibly damaging |
Het |
Dcakd |
A |
G |
11: 102,888,183 (GRCm39) |
Y134H |
possibly damaging |
Het |
Dctn3 |
G |
T |
4: 41,723,065 (GRCm39) |
Y22* |
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,124,797 (GRCm39) |
D2025V |
probably damaging |
Het |
Dync2li1 |
T |
C |
17: 84,943,702 (GRCm39) |
S92P |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,853,356 (GRCm39) |
V81A |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,228,023 (GRCm39) |
R1625C |
probably damaging |
Het |
Fam181a |
T |
C |
12: 103,282,785 (GRCm39) |
V230A |
probably benign |
Het |
Fanci |
T |
A |
7: 79,045,743 (GRCm39) |
D28E |
probably benign |
Het |
Fmn1 |
A |
G |
2: 113,195,962 (GRCm39) |
N554S |
unknown |
Het |
Frem2 |
T |
C |
3: 53,444,751 (GRCm39) |
Y2460C |
probably damaging |
Het |
Fscb |
G |
A |
12: 64,520,567 (GRCm39) |
P300S |
probably damaging |
Het |
Gm28042 |
A |
G |
2: 119,867,229 (GRCm39) |
D438G |
probably benign |
Het |
Ldaf1 |
A |
G |
7: 119,719,462 (GRCm39) |
E157G |
possibly damaging |
Het |
Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
Nbas |
A |
G |
12: 13,380,647 (GRCm39) |
D635G |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,414,095 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
T |
1: 62,783,514 (GRCm39) |
E205V |
probably damaging |
Het |
Pcdhb3 |
A |
T |
18: 37,435,239 (GRCm39) |
T402S |
possibly damaging |
Het |
Phc1 |
T |
C |
6: 122,299,296 (GRCm39) |
N638D |
possibly damaging |
Het |
Plcb1 |
A |
G |
2: 135,188,250 (GRCm39) |
N781S |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,523,071 (GRCm39) |
D1164E |
probably damaging |
Het |
Proser2 |
T |
A |
2: 6,105,506 (GRCm39) |
R353W |
possibly damaging |
Het |
Prxl2b |
T |
G |
4: 154,982,606 (GRCm39) |
Y56S |
probably damaging |
Het |
Ptges |
T |
A |
2: 30,782,708 (GRCm39) |
T115S |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
Pum1 |
T |
A |
4: 130,455,394 (GRCm39) |
L173* |
probably null |
Het |
Pum1 |
G |
T |
4: 130,455,395 (GRCm39) |
L269F |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,838,470 (GRCm39) |
Y106C |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,598,697 (GRCm39) |
|
probably benign |
Het |
Rdh1 |
A |
G |
10: 127,596,041 (GRCm39) |
T79A |
possibly damaging |
Het |
Relb |
A |
C |
7: 19,347,686 (GRCm39) |
|
probably null |
Het |
Rnf122 |
G |
A |
8: 31,602,192 (GRCm39) |
W6* |
probably null |
Het |
Rnf31 |
A |
G |
14: 55,829,994 (GRCm39) |
E138G |
possibly damaging |
Het |
Scaf8 |
G |
A |
17: 3,247,485 (GRCm39) |
R936Q |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,385,108 (GRCm39) |
V686D |
possibly damaging |
Het |
Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
Spns2 |
C |
T |
11: 72,349,497 (GRCm39) |
V252M |
possibly damaging |
Het |
Tomm40l |
C |
T |
1: 171,047,703 (GRCm39) |
S220N |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,237 (GRCm39) |
D423G |
probably damaging |
Het |
Trpc6 |
A |
AT |
9: 8,610,466 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,360,226 (GRCm39) |
R481Q |
possibly damaging |
Het |
Uba5 |
A |
T |
9: 103,937,442 (GRCm39) |
M89K |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,163,718 (GRCm39) |
D628G |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,595,904 (GRCm39) |
L819P |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,518 (GRCm39) |
D354E |
possibly damaging |
Het |
Xrn1 |
A |
G |
9: 95,888,873 (GRCm39) |
E984G |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,191,557 (GRCm39) |
V223A |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,691,186 (GRCm39) |
S1122P |
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 |
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'- TCATTGCAGAGAGGGTGCTG -3'
(R):5'- GGCACTCTAAAGACTGGAGTGG -3'
Sequencing Primer
(F):5'- GGGACCTTATCGGAGGCAC -3'
(R):5'- CACTCTAAAGACTGGAGTGGGAAGAG -3'
|
Posted On |
2014-10-01 |