Incidental Mutation 'R3907:Ampd3'
ID 310250
Institutional Source Beutler Lab
Gene Symbol Ampd3
Ensembl Gene ENSMUSG00000005686
Gene Name adenosine monophosphate deaminase 3
Synonyms
MMRRC Submission 040908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3907 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 110367413-110411612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110392877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000149655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000143786] [ENSMUST00000147587] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000213373]
AlphaFold O08739
Predicted Effect possibly damaging
Transcript: ENSMUST00000005829
AA Change: D206G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: D206G

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 309 716 1.5e-139 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106686
Predicted Effect probably benign
Transcript: ENSMUST00000143786
SMART Domains Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147587
SMART Domains Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148292
SMART Domains Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170374
AA Change: D206G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: D206G

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 309 716 7.6e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176487
Predicted Effect possibly damaging
Transcript: ENSMUST00000213373
AA Change: D215G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.0906 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Apba1 T C 19: 23,914,870 (GRCm39) I690T probably damaging Het
Arid1a T C 4: 133,420,223 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asns C T 6: 7,682,270 (GRCm39) probably null Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Asph T C 4: 9,474,934 (GRCm39) K680R probably benign Het
Atp2b4 A T 1: 133,666,324 (GRCm39) S243T probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Car4 G A 11: 84,855,183 (GRCm39) V141M probably damaging Het
Cct4 A G 11: 22,951,560 (GRCm39) I376V probably benign Het
Chrm4 C T 2: 91,758,084 (GRCm39) A164V probably damaging Het
Csf3r A T 4: 125,928,240 (GRCm39) D291V probably benign Het
Dcaf6 A T 1: 165,251,949 (GRCm39) C58* probably null Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Defb4 A T 8: 19,251,277 (GRCm39) Q48L possibly damaging Het
Dnaaf9 C T 2: 130,578,496 (GRCm39) A663T probably damaging Het
Duox2 C T 2: 122,113,541 (GRCm39) probably null Het
E130308A19Rik C T 4: 59,752,393 (GRCm39) T502I probably benign Het
Ephb1 A G 9: 101,878,925 (GRCm39) C522R probably benign Het
Fam76a T C 4: 132,643,432 (GRCm39) K101E probably damaging Het
Fat1 G C 8: 45,476,072 (GRCm39) R1706T probably benign Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gm10110 T C 14: 90,135,583 (GRCm39) noncoding transcript Het
Gphn T A 12: 78,540,716 (GRCm39) probably benign Het
Hars1 A T 18: 36,915,769 (GRCm39) D48E probably benign Het
Hmgcll1 G A 9: 75,979,943 (GRCm39) R111H probably benign Het
Ighv3-4 A G 12: 114,217,538 (GRCm39) S18P probably damaging Het
Iws1 G A 18: 32,212,973 (GRCm39) E134K possibly damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Krt16 A G 11: 100,137,989 (GRCm39) V329A possibly damaging Het
Loxhd1 A T 18: 77,496,464 (GRCm39) M1575L possibly damaging Het
Mapkapk2 A T 1: 130,984,651 (GRCm39) S234T probably damaging Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Nlrp5 T A 7: 23,133,071 (GRCm39) D905E possibly damaging Het
Or4c117 A C 2: 88,955,927 (GRCm39) Y49* probably null Het
Or6z7 A T 7: 6,483,678 (GRCm39) V159D probably damaging Het
Otoa A T 7: 120,724,788 (GRCm39) Q489L probably damaging Het
Pced1b T C 15: 97,282,431 (GRCm39) S157P probably damaging Het
Ppp1r16b T C 2: 158,603,410 (GRCm39) I345T probably benign Het
Prrt4 G T 6: 29,177,173 (GRCm39) L199M probably damaging Het
Ptpn6 T C 6: 124,702,239 (GRCm39) D347G possibly damaging Het
Pwwp3a T C 10: 80,074,150 (GRCm39) V401A probably damaging Het
Rcan1 A G 16: 92,262,917 (GRCm39) probably benign Het
Rif1 C T 2: 52,002,557 (GRCm39) L2004F probably benign Het
Rnf185 A G 11: 3,376,681 (GRCm39) probably benign Het
Shank2 C T 7: 143,963,313 (GRCm39) P307L probably damaging Het
Slc19a3 G A 1: 82,992,534 (GRCm39) R396C possibly damaging Het
Stn1 T C 19: 47,496,262 (GRCm39) D321G probably damaging Het
Taar7a T C 10: 23,868,457 (GRCm39) Y308C probably benign Het
Tespa1 T C 10: 130,192,666 (GRCm39) probably benign Het
Tmcc2 T C 1: 132,288,376 (GRCm39) D359G probably damaging Het
Trhde C T 10: 114,636,601 (GRCm39) G202E possibly damaging Het
Trip12 T C 1: 84,709,827 (GRCm39) T469A possibly damaging Het
Trip4 A G 9: 65,740,708 (GRCm39) I533T probably benign Het
Tsc22d1 T C 14: 76,653,983 (GRCm39) I154T probably damaging Het
Ttn C A 2: 76,733,686 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Usp54 A T 14: 20,636,181 (GRCm39) S288T probably damaging Het
Utrn C T 10: 12,585,926 (GRCm39) probably benign Het
Other mutations in Ampd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Ampd3 APN 7 110,402,354 (GRCm39) missense probably benign 0.01
IGL00576:Ampd3 APN 7 110,388,028 (GRCm39) splice site probably benign
IGL00805:Ampd3 APN 7 110,409,072 (GRCm39) missense possibly damaging 0.78
IGL01486:Ampd3 APN 7 110,409,123 (GRCm39) splice site probably benign
IGL01551:Ampd3 APN 7 110,404,183 (GRCm39) missense probably damaging 1.00
IGL02088:Ampd3 APN 7 110,392,893 (GRCm39) missense probably benign 0.00
IGL02123:Ampd3 APN 7 110,401,766 (GRCm39) missense possibly damaging 0.91
IGL02605:Ampd3 APN 7 110,394,965 (GRCm39) missense probably benign 0.00
IGL02990:Ampd3 APN 7 110,407,170 (GRCm39) splice site probably benign
carson UTSW 7 110,399,917 (GRCm39) missense probably damaging 1.00
commanche UTSW 7 110,407,078 (GRCm39) missense possibly damaging 0.95
guangdong UTSW 7 110,402,369 (GRCm39) missense probably damaging 1.00
macao UTSW 7 110,402,346 (GRCm39) missense probably damaging 1.00
penasco UTSW 7 110,402,433 (GRCm39) missense probably damaging 1.00
taos UTSW 7 110,404,142 (GRCm39) missense probably damaging 0.99
R0025:Ampd3 UTSW 7 110,392,876 (GRCm39) missense probably benign 0.04
R0025:Ampd3 UTSW 7 110,392,876 (GRCm39) missense probably benign 0.04
R0608:Ampd3 UTSW 7 110,394,998 (GRCm39) missense probably damaging 1.00
R0608:Ampd3 UTSW 7 110,394,997 (GRCm39) missense probably damaging 1.00
R0718:Ampd3 UTSW 7 110,377,015 (GRCm39) missense probably damaging 1.00
R0799:Ampd3 UTSW 7 110,399,904 (GRCm39) missense probably damaging 1.00
R1053:Ampd3 UTSW 7 110,387,887 (GRCm39) missense probably damaging 1.00
R1473:Ampd3 UTSW 7 110,404,142 (GRCm39) missense probably damaging 0.99
R1676:Ampd3 UTSW 7 110,394,940 (GRCm39) missense probably damaging 1.00
R1977:Ampd3 UTSW 7 110,402,369 (GRCm39) missense probably damaging 1.00
R2380:Ampd3 UTSW 7 110,399,917 (GRCm39) missense probably damaging 1.00
R2419:Ampd3 UTSW 7 110,367,576 (GRCm39) unclassified probably benign
R3438:Ampd3 UTSW 7 110,402,433 (GRCm39) missense probably damaging 1.00
R5367:Ampd3 UTSW 7 110,407,078 (GRCm39) missense possibly damaging 0.95
R5625:Ampd3 UTSW 7 110,401,730 (GRCm39) missense probably damaging 0.97
R6066:Ampd3 UTSW 7 110,392,974 (GRCm39) missense probably benign 0.12
R6267:Ampd3 UTSW 7 110,390,387 (GRCm39) splice site probably null
R6493:Ampd3 UTSW 7 110,395,018 (GRCm39) splice site probably null
R6852:Ampd3 UTSW 7 110,401,753 (GRCm39) missense probably benign 0.02
R7147:Ampd3 UTSW 7 110,404,059 (GRCm39) missense probably damaging 1.00
R7313:Ampd3 UTSW 7 110,405,261 (GRCm39) missense probably damaging 1.00
R7649:Ampd3 UTSW 7 110,377,049 (GRCm39) missense probably benign 0.01
R7843:Ampd3 UTSW 7 110,390,395 (GRCm39) missense probably benign 0.01
R7946:Ampd3 UTSW 7 110,377,147 (GRCm39) missense probably damaging 1.00
R8319:Ampd3 UTSW 7 110,394,982 (GRCm39) missense probably benign 0.01
R8377:Ampd3 UTSW 7 110,399,937 (GRCm39) missense probably damaging 1.00
R9202:Ampd3 UTSW 7 110,402,346 (GRCm39) missense probably damaging 1.00
R9498:Ampd3 UTSW 7 110,409,053 (GRCm39) missense probably damaging 1.00
R9623:Ampd3 UTSW 7 110,402,307 (GRCm39) missense probably damaging 1.00
R9720:Ampd3 UTSW 7 110,377,056 (GRCm39) missense probably benign
Z1088:Ampd3 UTSW 7 110,377,032 (GRCm39) missense probably damaging 1.00
Z1177:Ampd3 UTSW 7 110,387,987 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAGGCTTGCTCTAGAGACTG -3'
(R):5'- CCATCAGTGATGAGTGCCAG -3'

Sequencing Primer
(F):5'- CTTGCTCTAGAGACTGGACTATAGC -3'
(R):5'- CAGAATATGGCTCATGTCCACAATG -3'
Posted On 2015-04-17