Incidental Mutation 'R7323:Ampd1'
ID 568268
Institutional Source Beutler Lab
Gene Symbol Ampd1
Ensembl Gene ENSMUSG00000070385
Gene Name adenosine monophosphate deaminase 1
Synonyms Ampd-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7323 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 102981330-103007036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102992696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 150 (Q150L)
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: Q150L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: Q150L

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: Q150L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: Q150L

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
AA Change: Q146L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik C A 5: 100,126,945 (GRCm39) A9E unknown Het
6030452D12Rik A T 8: 107,227,411 (GRCm39) probably null Het
Abcb11 C A 2: 69,117,979 (GRCm39) Q466H probably damaging Het
Adam20 A G 8: 41,248,421 (GRCm39) D177G probably benign Het
Angpt2 A C 8: 18,755,840 (GRCm39) M209R probably benign Het
Aoc2 G A 11: 101,219,371 (GRCm39) R598Q probably damaging Het
Arap1 A G 7: 101,049,418 (GRCm39) D960G probably damaging Het
Bhlhe40 G C 6: 108,642,242 (GRCm39) L395F probably benign Het
Cacna1i T C 15: 80,275,854 (GRCm39) C1882R possibly damaging Het
Ccr6 A G 17: 8,475,611 (GRCm39) N272S possibly damaging Het
Ces1f A T 8: 93,998,472 (GRCm39) W175R probably damaging Het
Ces3a A C 8: 105,782,239 (GRCm39) H364P possibly damaging Het
Cfap54 T C 10: 92,637,000 (GRCm39) M3130V probably benign Het
Clca3b G A 3: 144,531,681 (GRCm39) P708S possibly damaging Het
Cps1 A T 1: 67,197,028 (GRCm39) T360S probably benign Het
Cramp1 A T 17: 25,201,379 (GRCm39) M701K possibly damaging Het
Dnah1 A G 14: 31,020,664 (GRCm39) I1235T probably damaging Het
Efcab3 T C 11: 104,920,837 (GRCm39) L4676P probably benign Het
Ergic1 A G 17: 26,860,644 (GRCm39) E244G probably damaging Het
Fignl2 C A 15: 100,951,382 (GRCm39) R300L unknown Het
Fry T C 5: 150,419,814 (GRCm39) M628T Het
Fscn3 A G 6: 28,431,544 (GRCm39) T292A possibly damaging Het
Fsip2 A T 2: 82,819,860 (GRCm39) I5198L probably benign Het
Gm4181 T A 14: 51,869,990 (GRCm39) R104W probably damaging Het
Gnl1 G A 17: 36,294,305 (GRCm39) R308H probably benign Het
Gtf2h4 G T 17: 35,980,857 (GRCm39) L271I probably damaging Het
Helq GTTT GTT 5: 100,931,051 (GRCm39) probably null Het
Hhatl A T 9: 121,618,652 (GRCm39) W117R probably benign Het
Hlx A G 1: 184,462,993 (GRCm39) F220L probably benign Het
Il31ra T C 13: 112,688,497 (GRCm39) I27V probably damaging Het
Itga8 T G 2: 12,266,940 (GRCm39) D165A probably damaging Het
Krt33a A C 11: 99,902,801 (GRCm39) V341G probably benign Het
Lrrc3c A G 11: 98,490,266 (GRCm39) M208V possibly damaging Het
Mapk8ip3 A T 17: 25,120,135 (GRCm39) S947T probably benign Het
Muc5b A G 7: 141,412,444 (GRCm39) I1797V unknown Het
Myh2 A T 11: 67,088,191 (GRCm39) T1936S probably benign Het
Nr1h2 T C 7: 44,199,746 (GRCm39) Y391C possibly damaging Het
Or1l8 T A 2: 36,817,986 (GRCm39) I47F probably damaging Het
Or4c114 A T 2: 88,904,811 (GRCm39) I208K probably damaging Het
Or4e2 A G 14: 52,688,670 (GRCm39) I267V probably benign Het
Or5d40 A G 2: 88,015,952 (GRCm39) T244A possibly damaging Het
Phf3 A G 1: 30,852,211 (GRCm39) M1064T probably benign Het
Pkd1 A G 17: 24,794,025 (GRCm39) E1904G probably benign Het
Polrmt A G 10: 79,576,483 (GRCm39) V491A probably benign Het
Ppm1j C A 3: 104,691,429 (GRCm39) R306S probably damaging Het
Prkd2 T C 7: 16,581,547 (GRCm39) F134S probably benign Het
Prpf8 C A 11: 75,382,610 (GRCm39) Q439K probably benign Het
Prss50 A T 9: 110,692,800 (GRCm39) I307F possibly damaging Het
Rgs20 A G 1: 4,982,535 (GRCm39) probably null Het
Rnf144b A G 13: 47,393,258 (GRCm39) E199G probably damaging Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc22a26 A T 19: 7,768,259 (GRCm39) V233E probably damaging Het
Slc27a2 T G 2: 126,395,124 (GRCm39) L17R probably benign Het
Slc6a17 A G 3: 107,398,794 (GRCm39) V269A probably benign Het
Srp54c T C 12: 55,304,237 (GRCm39) V395A probably benign Het
Sspo A T 6: 48,438,581 (GRCm39) S1550C possibly damaging Het
Tet1 A G 10: 62,715,818 (GRCm39) probably benign Het
Themis A T 10: 28,609,497 (GRCm39) H88L probably benign Het
Tmem63b G A 17: 45,971,773 (GRCm39) T814M possibly damaging Het
Tnc G A 4: 63,889,469 (GRCm39) T1679I probably damaging Het
Tnfrsf11a A G 1: 105,772,456 (GRCm39) D581G probably damaging Het
Trim30d A C 7: 104,132,555 (GRCm39) V244G probably benign Het
Trpv1 T C 11: 73,151,163 (GRCm39) S784P possibly damaging Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Ubap2l A C 3: 89,922,713 (GRCm39) V775G unknown Het
Vmn2r69 A C 7: 85,060,972 (GRCm39) I204R possibly damaging Het
Vmn2r72 T A 7: 85,399,771 (GRCm39) D426V probably benign Het
Vmn2r93 G A 17: 18,533,497 (GRCm39) W467* probably null Het
Wbp2nl T C 15: 82,198,542 (GRCm39) *360Q probably null Het
Xylt1 G A 7: 117,191,274 (GRCm39) probably null Het
Zc3h6 T G 2: 128,835,331 (GRCm39) N123K unknown Het
Zfp853 T C 5: 143,275,110 (GRCm39) Q185R unknown 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
R0441:Ampd1 UTSW 3 102,995,794 (GRCm39) missense probably benign 0.05
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
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'- TCTTTCCTGCAGAGAGTCCC -3'
(R):5'- GCTGGGTCACTGATCATCTAAGATC -3'

Sequencing Primer
(F):5'- CTGGACAGGCTCAACGAG -3'
(R):5'- TAGTTCCAGCACTCACTTAGGAGG -3'
Posted On 2019-06-26