Incidental Mutation 'PIT4445001:Ampd2'
ID 555380
Institutional Source Beutler Lab
Gene Symbol Ampd2
Ensembl Gene ENSMUSG00000027889
Gene Name adenosine monophosphate deaminase 2
Synonyms m4521Dajl, 1200014F01Rik, Ampd-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # PIT4445001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 107981378-107993967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107982328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 767 (L767Q)
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: L793Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077946
Gene: ENSMUSG00000027889
AA Change: L793Q

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: L767Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099697
Gene: ENSMUSG00000027889
AA Change: L767Q

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: L767Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099698
Gene: ENSMUSG00000027889
AA Change: L767Q

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:A_deaminase 331 738 7.5e-125 PFAM
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D 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
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
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'- ATCAGGTGGGAGGGGTCTAATC -3'
(R):5'- CAAGGTATGGAACTCAGCCTG -3'

Sequencing Primer
(F):5'- GGTCTAATCACGGTCACAGTC -3'
(R):5'- ATGGAACTCAGCCTGCTTGG -3'
Posted On 2019-06-07