Incidental Mutation 'R3052:Ampd2'
ID 264981
Institutional Source Beutler Lab
Gene Symbol Ampd2
Ensembl Gene ENSMUSG00000027889
Gene Name adenosine monophosphate deaminase 2
Synonyms m4521Dajl, 1200014F01Rik, Ampd-2
MMRRC Submission 040561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R3052 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107981378-107993967 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 107993803 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Atp8b1 T C 18: 64,686,179 (GRCm39) E668G probably benign Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
B430306N03Rik T C 17: 48,623,938 (GRCm39) S80P probably damaging Het
Banp G A 8: 122,732,426 (GRCm39) probably null Het
Capn2 G A 1: 182,315,337 (GRCm39) T306M probably benign Het
Ccpg1 A T 9: 72,913,150 (GRCm39) S229C probably damaging Het
Cep250 G T 2: 155,832,968 (GRCm39) S1630I probably damaging Het
Ces1g C A 8: 94,061,676 (GRCm39) V77L possibly damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col6a3 T A 1: 90,729,852 (GRCm39) H1211L possibly damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Gm10384 A G 15: 36,871,996 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,672,299 (GRCm39) probably benign Het
Ift88 C T 14: 57,668,025 (GRCm39) P9S probably damaging Het
Mfsd2a A G 4: 122,845,635 (GRCm39) L172P probably damaging Het
Nav3 T A 10: 109,739,613 (GRCm39) I119F probably damaging Het
Nbeal2 T C 9: 110,462,153 (GRCm39) E1428G possibly damaging Het
Or12e7 C A 2: 87,288,247 (GRCm39) T246K probably damaging Het
Phf13 T C 4: 152,076,820 (GRCm39) D124G possibly damaging Het
Ppp3ca T G 3: 136,503,605 (GRCm39) S59R probably benign Het
Rsu1 A G 2: 13,174,946 (GRCm39) probably benign Het
Rttn T C 18: 89,033,370 (GRCm39) probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Sc5d G T 9: 42,166,866 (GRCm39) N224K probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt3a1 G T 15: 9,365,374 (GRCm39) W329L probably damaging Het
Unk T C 11: 115,940,949 (GRCm39) Y237H probably benign Het
Vcam1 A C 3: 115,918,079 (GRCm39) probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zc3h12c A T 9: 52,055,356 (GRCm39) L132Q possibly damaging Het
Other mutations in Ampd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACGAAAGTCTGCACAGCGAG -3'
(R):5'- CAGGGCTTCTGCTTGAAATGG -3'

Sequencing Primer
(F):5'- TCTGCACAGCGAGGGAGC -3'
(R):5'- AAGGGGATTTACCTTCAGTCCTCAG -3'
Posted On 2015-02-05