Incidental Mutation 'R0441:Ampd1'
ID 39148
Institutional Source Beutler Lab
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Name adenosine monophosphate deaminase 1
Synonyms Ampd-1
MMRRC Submission 038642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R0441 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 102981330-103007036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 102995794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 235 (L235V)
Ref Sequence ENSEMBL: ENSMUSP00000088217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000176440]
AlphaFold Q3V1D3
Predicted Effect probably benign
Transcript: ENSMUST00000090715
AA Change: L235V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: L235V

DomainStartEndE-ValueType
low complexity region 234 246 N/A INTRINSIC
Pfam:A_deaminase 294 701 5.4e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155034
AA Change: L235V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: L235V

DomainStartEndE-ValueType
low complexity region 234 246 N/A INTRINSIC
Pfam:A_deaminase 294 676 5.2e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176440
Meta Mutation Damage Score 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Kat6b T C 14: 21,720,301 (GRCm39) L1551P probably damaging Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rec114 G A 9: 58,565,053 (GRCm39) T201I probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
Tecpr1 C A 5: 144,132,759 (GRCm39) R1159L probably benign Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Tpp2 A G 1: 44,029,722 (GRCm39) N68D possibly damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T probably damaging Het
Other mutations in Ampd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Ampd1 APN 3 103,007,010 (GRCm39) missense possibly damaging 0.64
IGL00909:Ampd1 APN 3 102,995,744 (GRCm39) missense probably benign 0.10
IGL01543:Ampd1 APN 3 103,003,029 (GRCm39) missense probably benign 0.00
IGL01743:Ampd1 APN 3 103,002,201 (GRCm39) splice site probably benign
IGL02390:Ampd1 APN 3 102,986,357 (GRCm39) missense probably benign 0.28
IGL02637:Ampd1 APN 3 103,002,199 (GRCm39) splice site probably benign
IGL02735:Ampd1 APN 3 102,992,693 (GRCm39) missense probably damaging 1.00
IGL03151:Ampd1 APN 3 102,999,786 (GRCm39) splice site probably null
twinkle_toes UTSW 3 103,002,962 (GRCm39) nonsense probably null
R0158:Ampd1 UTSW 3 102,999,046 (GRCm39) nonsense probably null
R0646:Ampd1 UTSW 3 103,006,913 (GRCm39) missense probably damaging 1.00
R1474:Ampd1 UTSW 3 103,006,154 (GRCm39) missense probably damaging 1.00
R1499:Ampd1 UTSW 3 102,998,980 (GRCm39) missense probably damaging 1.00
R1789:Ampd1 UTSW 3 103,006,442 (GRCm39) missense possibly damaging 0.46
R2131:Ampd1 UTSW 3 103,002,194 (GRCm39) critical splice donor site probably null
R3706:Ampd1 UTSW 3 102,995,627 (GRCm39) splice site probably benign
R4007:Ampd1 UTSW 3 102,999,776 (GRCm39) missense probably damaging 0.99
R4169:Ampd1 UTSW 3 103,002,157 (GRCm39) missense probably damaging 1.00
R4525:Ampd1 UTSW 3 103,002,049 (GRCm39) missense probably damaging 1.00
R4828:Ampd1 UTSW 3 102,988,413 (GRCm39) missense probably damaging 1.00
R5015:Ampd1 UTSW 3 103,006,981 (GRCm39) missense possibly damaging 0.89
R5514:Ampd1 UTSW 3 102,986,488 (GRCm39) missense possibly damaging 0.50
R5839:Ampd1 UTSW 3 102,992,744 (GRCm39) missense possibly damaging 0.47
R5872:Ampd1 UTSW 3 102,986,446 (GRCm39) missense probably benign 0.00
R5890:Ampd1 UTSW 3 102,997,391 (GRCm39) missense probably damaging 1.00
R5986:Ampd1 UTSW 3 102,992,713 (GRCm39) missense probably damaging 1.00
R6272:Ampd1 UTSW 3 102,992,699 (GRCm39) missense possibly damaging 0.50
R6473:Ampd1 UTSW 3 103,002,962 (GRCm39) nonsense probably null
R6504:Ampd1 UTSW 3 103,006,911 (GRCm39) missense possibly damaging 0.90
R7051:Ampd1 UTSW 3 102,997,389 (GRCm39) missense probably damaging 1.00
R7323:Ampd1 UTSW 3 102,992,696 (GRCm39) missense probably benign
R7424:Ampd1 UTSW 3 102,995,758 (GRCm39) missense probably benign 0.05
R7436:Ampd1 UTSW 3 102,981,435 (GRCm39) critical splice donor site probably null
R7546:Ampd1 UTSW 3 103,003,028 (GRCm39) missense probably benign
R8344:Ampd1 UTSW 3 103,003,002 (GRCm39) missense possibly damaging 0.90
R8366:Ampd1 UTSW 3 102,995,810 (GRCm39) missense probably damaging 0.99
R8423:Ampd1 UTSW 3 102,988,305 (GRCm39) missense probably benign
R8543:Ampd1 UTSW 3 102,986,486 (GRCm39) missense possibly damaging 0.50
R8730:Ampd1 UTSW 3 102,992,676 (GRCm39) nonsense probably null
R8904:Ampd1 UTSW 3 102,988,374 (GRCm39) missense probably benign 0.12
R9017:Ampd1 UTSW 3 102,995,786 (GRCm39) missense probably benign 0.01
R9121:Ampd1 UTSW 3 103,005,998 (GRCm39) nonsense probably null
R9150:Ampd1 UTSW 3 102,988,359 (GRCm39) missense possibly damaging 0.49
R9242:Ampd1 UTSW 3 102,998,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- cagcaatgcctggctCCTAGTTATTT -3'
(R):5'- GAAGGCAGTATTTGACAATGATAAGCATGTGA -3'

Sequencing Primer
(F):5'- cagccagggttacatagtgag -3'
(R):5'- GCATGTGAAAAGCATTCTTATGACC -3'
Posted On 2013-05-23