Incidental Mutation 'R1466:Ampd2'
ID 166021
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 # R1466 (G1)
Quality Score 141
Status Not validated
Chromosome 3
Chromosomal Location 107981378-107993967 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 107987653 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 probably null
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 null
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 null
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: 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: ENSMUST00000153626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133129
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
Meta Mutation Damage Score 0.9597 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.9%
  • 10x: 90.8%
  • 20x: 71.5%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C T 11: 77,406,236 (GRCm39) A71V probably damaging Het
Adamts12 T C 15: 11,311,445 (GRCm39) F1234S probably benign Het
Ahnak A G 19: 8,993,239 (GRCm39) D4841G probably damaging Het
Akap13 T C 7: 75,378,797 (GRCm39) S2095P possibly damaging Het
Arhgef17 G T 7: 100,578,866 (GRCm39) P694Q possibly damaging Het
Arrdc1 T C 2: 24,815,807 (GRCm39) I398V probably benign Het
Ash1l T C 3: 88,959,372 (GRCm39) Y2250H probably damaging Het
Aspg A G 12: 112,088,286 (GRCm39) N385D probably benign Het
Atxn3 G A 12: 101,892,758 (GRCm39) R319C possibly damaging Het
Brca2 G A 5: 150,475,723 (GRCm39) A2478T probably damaging Het
C1s1 C T 6: 124,508,090 (GRCm39) C633Y probably damaging Het
C8g C T 2: 25,390,228 (GRCm39) A6T probably benign Het
Cbl A T 9: 44,065,541 (GRCm39) V706E probably benign Het
Ccdc121rt3 C T 5: 112,502,630 (GRCm39) G358D probably benign Het
Cfhr1 C T 1: 139,485,312 (GRCm39) E45K probably benign Het
Chd7 G A 4: 8,840,561 (GRCm39) probably null Het
Chek1 G T 9: 36,637,153 (GRCm39) A2E probably damaging Het
Cntnap1 C A 11: 101,071,186 (GRCm39) F366L probably damaging Het
Corin C T 5: 72,460,133 (GRCm39) probably null Het
Crb2 T C 2: 37,673,400 (GRCm39) Y99H probably damaging Het
Ctdspl2 G A 2: 121,834,410 (GRCm39) R332K probably benign Het
Cym G A 3: 107,120,774 (GRCm39) T277I probably damaging Het
Cyp2d11 C T 15: 82,275,936 (GRCm39) C215Y probably benign Het
Dido1 G A 2: 180,304,121 (GRCm39) P1261L probably damaging Het
Dnah10 T A 5: 124,840,160 (GRCm39) Y1265N probably benign Het
Dtx3l G A 16: 35,753,098 (GRCm39) L503F probably damaging Het
Efhb A G 17: 53,744,206 (GRCm39) F462L probably damaging Het
Enpep T A 3: 129,113,097 (GRCm39) T203S probably damaging Het
Fat3 A C 9: 16,286,778 (GRCm39) V915G probably damaging Het
Fbln7 A G 2: 128,719,349 (GRCm39) T49A probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgf14 T A 14: 124,913,951 (GRCm39) K60M probably benign Het
Galnt4 A G 10: 98,944,571 (GRCm39) R99G probably benign Het
Gimap4 C A 6: 48,668,216 (GRCm39) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm39) T6I probably damaging Het
Gm10110 A T 14: 90,135,511 (GRCm39) noncoding transcript Het
Gm4884 A G 7: 40,692,552 (GRCm39) K174E probably damaging Het
Grip2 A T 6: 91,765,424 (GRCm39) D19E probably damaging Het
Grk4 T C 5: 34,852,094 (GRCm39) S113P probably benign Het
Hectd3 G A 4: 116,853,763 (GRCm39) E220K probably damaging Het
Helz2 G A 2: 180,878,090 (GRCm39) P903S probably damaging Het
Hydin T A 8: 111,259,585 (GRCm39) V2519E possibly damaging Het
Ints11 G A 4: 155,972,567 (GRCm39) probably null Het
Kif1a A G 1: 92,982,651 (GRCm39) W718R possibly damaging Het
Kif1b A T 4: 149,307,709 (GRCm39) Y839N probably damaging Het
Kif20b T A 19: 34,927,999 (GRCm39) V1047D probably benign Het
Klhl23 T C 2: 69,664,232 (GRCm39) I527T probably damaging Het
Klra10 T A 6: 130,256,278 (GRCm39) R125S probably damaging Het
Klra10 T C 6: 130,256,394 (GRCm39) N87D probably damaging Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lcn4 G A 2: 26,558,588 (GRCm39) P166L probably damaging Het
Letmd1 T A 15: 100,370,423 (GRCm39) probably null Het
Map4k2 G T 19: 6,391,947 (GRCm39) W87L probably damaging Het
Mccc1 A G 3: 36,028,435 (GRCm39) V457A probably benign Het
Mdn1 T A 4: 32,730,788 (GRCm39) S2886T probably benign Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Mrpl24 T A 3: 87,829,235 (GRCm39) Y21* probably null Het
Mrps35 C T 6: 146,957,482 (GRCm39) T169M probably damaging Het
Mtcl1 T A 17: 66,687,430 (GRCm39) D492V probably damaging Het
Muc2 A G 7: 141,302,711 (GRCm39) Y457C probably damaging Het
Muc4 G A 16: 32,574,886 (GRCm39) G1157D probably benign Het
Myg1 T A 15: 102,245,825 (GRCm39) L275Q probably damaging Het
Naga T A 15: 82,218,989 (GRCm39) M237L probably null Het
Oc90 T A 15: 65,769,569 (GRCm39) Y96F probably damaging Het
Or12d13 A T 17: 37,647,847 (GRCm39) L92H probably benign Het
Or13a18 A G 7: 140,190,882 (GRCm39) I268V probably benign Het
Or4a80 C T 2: 89,582,611 (GRCm39) C187Y probably damaging Het
Or5m11b T A 2: 85,806,339 (GRCm39) F251I probably damaging Het
Or6ae1 A G 7: 139,742,116 (GRCm39) V249A probably damaging Het
Orc4 A T 2: 48,799,506 (GRCm39) C324S possibly damaging Het
Pcdh10 T G 3: 45,334,409 (GRCm39) L241R probably damaging Het
Pdzrn4 T C 15: 92,668,418 (GRCm39) S857P probably benign Het
Plec C T 15: 76,070,108 (GRCm39) E1000K possibly damaging Het
Plvap A T 8: 71,961,125 (GRCm39) V149D probably benign Het
Ppef1 C A X: 159,408,670 (GRCm39) probably null Het
Prkaa1 C A 15: 5,208,279 (GRCm39) P507T probably benign Het
Ptch1 A G 13: 63,672,783 (GRCm39) Y804H probably benign Het
R3hdm2 A G 10: 127,312,559 (GRCm39) I434V probably benign Het
Rfx5 T A 3: 94,863,614 (GRCm39) Y88N probably damaging Het
Rnase2b A T 14: 51,400,296 (GRCm39) K126* probably null Het
Rpl3l A G 17: 24,949,845 (GRCm39) I15V probably benign Het
Saal1 G T 7: 46,351,969 (GRCm39) probably null Het
Sbpl A C 17: 24,172,228 (GRCm39) D230E unknown Het
Scn10a T C 9: 119,495,556 (GRCm39) Y322C probably damaging Het
Sec16a A T 2: 26,321,169 (GRCm39) Y1308N probably damaging Het
Sis A T 3: 72,839,393 (GRCm39) D824E possibly damaging Het
Slc25a36 A G 9: 96,962,408 (GRCm39) F194L probably damaging Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Slc7a11 G T 3: 50,335,522 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,897 (GRCm39) S322T probably damaging Het
Smarcc2 A T 10: 128,310,114 (GRCm39) T376S probably damaging Het
Srebf1 C T 11: 60,091,528 (GRCm39) R999H probably benign Het
St3gal3 A C 4: 117,964,859 (GRCm39) M1R probably null Het
Syp A T X: 7,514,944 (GRCm39) probably benign Het
Tas1r2 A G 4: 139,396,722 (GRCm39) D687G probably damaging Het
Tekt4 A T 17: 25,691,048 (GRCm39) Q118L probably benign Het
Thoc2l T A 5: 104,666,123 (GRCm39) I215N probably damaging Het
Tph2 T C 10: 114,915,600 (GRCm39) N480S probably benign Het
Tsc2 A T 17: 24,827,947 (GRCm39) M839K probably damaging Het
Ttc22 T C 4: 106,479,977 (GRCm39) F77S probably damaging Het
Uaca C T 9: 60,761,603 (GRCm39) A205V possibly damaging Het
Uhmk1 A T 1: 170,036,222 (GRCm39) probably null Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vwa3a A G 7: 120,367,388 (GRCm39) Y181C probably damaging Het
Wfikkn2 G A 11: 94,129,721 (GRCm39) T140I probably damaging Het
Zfp704 G T 3: 9,512,408 (GRCm39) T288N possibly damaging Het
Zfp93 T C 7: 23,975,521 (GRCm39) V502A probably damaging Het
Zzef1 C T 11: 72,815,505 (GRCm39) P2942S 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
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
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'- GAGATGATGACCCGCTGAAATTCCC -3'
(R):5'- TGCCTGGAAGGCAGCATAGAACAC -3'

Sequencing Primer
(F):5'- GCTGAAATTCCCGTTCCAATAC -3'
(R):5'- GGCAGCATAGAACACATTCTTTGG -3'
Posted On 2014-03-28