Incidental Mutation 'R1061:Ampd2'
ID 94449
Institutional Source Beutler Lab
Gene Symbol Ampd2
Ensembl Gene ENSMUSG00000027889
Gene Name adenosine monophosphate deaminase 2
Synonyms m4521Dajl, 1200014F01Rik, Ampd-2
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R1061 (G1)
Quality Score 179
Status Not validated
Chromosome 3
Chromosomal Location 107981378-107993967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107983005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 641 (Y641H)
Ref Sequence ENSEMBL: ENSMUSP00000099698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078912] [ENSMUST00000102637] [ENSMUST00000102638]
AlphaFold Q9DBT5
Predicted Effect probably damaging
Transcript: ENSMUST00000078912
AA Change: Y667H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: Y667H

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 357 764 3.3e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102637
AA Change: Y641H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: Y641H

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:A_deaminase 331 738 7.5e-125 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102638
AA Change: Y641H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: Y641H

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:A_deaminase 331 738 7.5e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106667
SMART Domains Protein: ENSMUSP00000102278
Gene: ENSMUSG00000027889

DomainStartEndE-ValueType
Pfam:A_deaminase 1 42 5.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149479
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: ENSMUST00000133129
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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
Abcb11 C T 2: 69,108,153 (GRCm39) A715T probably benign Het
Aqp4 A T 18: 15,531,248 (GRCm39) V171E probably damaging Het
Arid4a T A 12: 71,121,729 (GRCm39) S381R probably damaging Het
Armc8 T G 9: 99,419,784 (GRCm39) N51H probably damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bcl11a A T 11: 24,114,069 (GRCm39) K471* probably null Het
Birc6 A G 17: 74,996,307 (GRCm39) T4494A probably damaging Het
Btbd9 A G 17: 30,746,409 (GRCm39) I139T probably benign Het
Ccdc60 C A 5: 116,310,527 (GRCm39) R178S possibly damaging Het
Cd163 C T 6: 124,286,128 (GRCm39) A226V probably benign Het
Cibar2 C A 8: 120,896,443 (GRCm39) probably null Het
Cog1 T G 11: 113,542,863 (GRCm39) S170A probably benign Het
Cwc15 T C 9: 14,419,211 (GRCm39) L169P probably damaging Het
Cyp3a25 A T 5: 145,923,643 (GRCm39) D333E probably benign Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Dlc1 T A 8: 37,325,205 (GRCm39) T367S probably benign Het
Dnah17 T C 11: 117,943,514 (GRCm39) D3183G possibly damaging Het
Eif2a T A 3: 58,452,486 (GRCm39) Y165* probably null Het
Eml6 T C 11: 29,727,267 (GRCm39) D1285G probably damaging Het
Fasn T C 11: 120,713,008 (GRCm39) probably null Het
Fbn1 T C 2: 125,187,883 (GRCm39) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 190,740,370 (GRCm39) V550E probably benign Het
Gcm2 A G 13: 41,259,347 (GRCm39) W41R probably damaging Het
Gli2 A T 1: 118,782,247 (GRCm39) M160K possibly damaging Het
Gpr61 C T 3: 108,057,623 (GRCm39) R346H probably damaging Het
Hoxa5 A T 6: 52,181,135 (GRCm39) S66T probably benign Het
Hsph1 A T 5: 149,541,883 (GRCm39) V781D possibly damaging Het
Kdm3b G A 18: 34,929,915 (GRCm39) V220M probably damaging Het
Klhl25 T A 7: 75,516,268 (GRCm39) Y391* probably null Het
Mc2r A T 18: 68,540,880 (GRCm39) Y138N probably damaging Het
Mtap C A 4: 89,074,821 (GRCm39) D106E probably benign Het
Nup43 G T 10: 7,543,435 (GRCm39) W37L probably damaging Het
Nxpe2 T A 9: 48,237,663 (GRCm39) E197D probably damaging Het
Odad1 T C 7: 45,591,179 (GRCm39) I218T probably damaging Het
Or10d1c C A 9: 38,893,779 (GRCm39) C187F probably damaging Het
Or55b4 T A 7: 102,133,321 (GRCm39) *335C probably null Het
Or5p60 T C 7: 107,723,663 (GRCm39) Y269C probably damaging Het
Or8h8 A T 2: 86,753,126 (GRCm39) V250D possibly damaging Het
Pitrm1 A G 13: 6,605,611 (GRCm39) H186R probably damaging Het
Pklr C T 3: 89,052,188 (GRCm39) R467C probably damaging Het
Plxna2 A G 1: 194,326,401 (GRCm39) N112D probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp3cb A C 14: 20,558,682 (GRCm39) probably null Het
R3hcc1l C T 19: 42,571,865 (GRCm39) R135* probably null Het
Ralyl A C 3: 14,180,761 (GRCm39) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
S100a1 T C 3: 90,418,619 (GRCm39) N65S probably damaging Het
Scn11a A T 9: 119,624,729 (GRCm39) M531K probably damaging Het
Slc5a5 T A 8: 71,342,865 (GRCm39) M232L probably benign Het
Tet3 A T 6: 83,350,305 (GRCm39) N1054K probably damaging Het
Tg A G 15: 66,570,408 (GRCm39) N1427D probably benign Het
Tns1 A C 1: 73,956,831 (GRCm39) V530G probably damaging Het
Trcg1 C A 9: 57,153,156 (GRCm39) Q600K possibly damaging Het
Tshz3 A G 7: 36,468,131 (GRCm39) E40G probably damaging Het
Usp34 T C 11: 23,334,420 (GRCm39) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,038,603 (GRCm39) T726I probably benign Het
Vmn2r97 A T 17: 19,148,440 (GRCm39) R112* probably null Het
Vwa2 G T 19: 56,897,426 (GRCm39) R577L probably benign Het
Vwa3b A C 1: 37,196,511 (GRCm39) Q46P probably damaging Het
Wdr25 T A 12: 108,958,725 (GRCm39) probably null Het
Wrap53 A G 11: 69,453,226 (GRCm39) L405P probably damaging Het
Zfp629 C A 7: 127,211,161 (GRCm39) W216L probably 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
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
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'- AGTTGCTAAGCTCCAGCAGCAAG -3'
(R):5'- AGCCCAGCCCAGGATTCATCATTC -3'

Sequencing Primer
(F):5'- TAGAGGCACCCAGTATCCC -3'
(R):5'- AGCCCAGGATTCATCATTCTTATG -3'
Posted On 2014-01-05