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) question?
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

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: ENSMUST00000133129
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: 99.3%
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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