Incidental Mutation 'R8724:Ampd2'
| ID |
662271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd2
|
| Ensembl Gene |
ENSMUSG00000027889 |
| Gene Name |
adenosine monophosphate deaminase 2 |
| Synonyms |
m4521Dajl, 1200014F01Rik, Ampd-2 |
| MMRRC Submission |
068573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R8724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (69/70) |
| 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 |
|---|
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,737,405 (GRCm39) |
D2826E |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,051,120 (GRCm39) |
I486F |
probably damaging |
Het |
| Atg4b |
A |
T |
1: 93,696,023 (GRCm39) |
Y54F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,945 (GRCm39) |
I792F |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 36,945,042 (GRCm39) |
V334I |
probably damaging |
Het |
| Ccser1 |
A |
C |
6: 61,288,199 (GRCm39) |
S121R |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,856,199 (GRCm39) |
V406E |
possibly damaging |
Het |
| Ces2g |
C |
A |
8: 105,692,955 (GRCm39) |
A331D |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,474,760 (GRCm39) |
R299H |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dock10 |
T |
G |
1: 80,570,344 (GRCm39) |
I371L |
probably benign |
Het |
| Dpp9 |
T |
A |
17: 56,512,867 (GRCm39) |
T114S |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,796,475 (GRCm39) |
R160G |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,923,961 (GRCm39) |
D188G |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,651,624 (GRCm39) |
K122R |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,886 (GRCm39) |
S1486P |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,182,098 (GRCm39) |
I361T |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,818 (GRCm39) |
C761Y |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Eya1 |
A |
T |
1: 14,279,206 (GRCm39) |
D346E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,786 (GRCm39) |
Y2309C |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,066 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,577,097 (GRCm39) |
V143A |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,144,109 (GRCm39) |
I114T |
probably damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,564 (GRCm39) |
I109T |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hsf1 |
C |
T |
15: 76,381,999 (GRCm39) |
S199L |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,815,981 (GRCm39) |
N152S |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,617,100 (GRCm39) |
E82D |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,705,917 (GRCm39) |
K367T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,916,146 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,931,335 (GRCm39) |
V643I |
probably benign |
Het |
| Lipk |
G |
A |
19: 33,996,120 (GRCm39) |
V11M |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,751,249 (GRCm39) |
L66* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,451,500 (GRCm39) |
K379E |
probably damaging |
Het |
| Nat1 |
T |
A |
8: 67,944,443 (GRCm39) |
I276N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,141,184 (GRCm39) |
V910M |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,704 (GRCm39) |
I141N |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,373 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,124,583 (GRCm39) |
V529A |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,848,146 (GRCm39) |
T51I |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,968,956 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,333,982 (GRCm39) |
D438G |
unknown |
Het |
| Pgm1 |
A |
G |
4: 99,786,964 (GRCm39) |
T68A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,913,619 (GRCm39) |
V1006I |
unknown |
Het |
| Plk4 |
C |
T |
3: 40,768,022 (GRCm39) |
T855I |
probably damaging |
Het |
| Pnldc1 |
T |
A |
17: 13,111,703 (GRCm39) |
N335Y |
probably damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,784 (GRCm39) |
P658S |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,841,837 (GRCm39) |
I1011T |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,150 (GRCm39) |
V370G |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,643,316 (GRCm39) |
E43G |
unknown |
Het |
| Rtp2 |
C |
T |
16: 23,746,064 (GRCm39) |
G189D |
possibly damaging |
Het |
| Ryr1 |
G |
A |
7: 28,816,802 (GRCm39) |
A78V |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,293,165 (GRCm39) |
Y850* |
probably null |
Het |
| Senp3 |
T |
C |
11: 69,564,419 (GRCm39) |
Q547R |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,976 (GRCm39) |
L402P |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,855,453 (GRCm39) |
I485V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,012,610 (GRCm39) |
H204Q |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,623,301 (GRCm39) |
I180S |
probably damaging |
Het |
| Smyd1 |
T |
A |
6: 71,193,767 (GRCm39) |
Y420F |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,139,658 (GRCm39) |
I1168T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,861 (GRCm39) |
E7737G |
possibly damaging |
Het |
| Trappc4 |
T |
A |
9: 44,316,560 (GRCm39) |
H145L |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,512 (GRCm39) |
V1453A |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,681,110 (GRCm39) |
I318T |
probably benign |
Het |
| Zfp846 |
G |
A |
9: 20,505,352 (GRCm39) |
R404H |
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 |
|
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 |
|
|
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'- TCCCAGAGAATCAGTGAGCC -3'
(R):5'- TTCTTCTTCGAGCCAAGCAAG -3'
Sequencing Primer
(F):5'- GAGAATCAGTGAGCCCACAGC -3'
(R):5'- TTCGAGCCAAGCAAGATTTCCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation