Incidental Mutation 'R6413:Amdhd2'
ID 514832
Institutional Source Beutler Lab
Gene Symbol Amdhd2
Ensembl Gene ENSMUSG00000036820
Gene Name amidohydrolase domain containing 2
Synonyms 5730457F11Rik
MMRRC Submission 044555-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R6413 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24374807-24382740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24377290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 208 (S208P)
Ref Sequence ENSEMBL: ENSMUSP00000036141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040735] [ENSMUST00000129523]
AlphaFold Q8JZV7
Predicted Effect probably damaging
Transcript: ENSMUST00000040735
AA Change: S208P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
AA Change: S208P

DomainStartEndE-ValueType
Pfam:Amidohydro_1 62 401 7.2e-18 PFAM
Pfam:Amidohydro_3 327 404 5.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129523
SMART Domains Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820

DomainStartEndE-ValueType
Pfam:Amidohydro_5 1 71 1.5e-7 PFAM
Pfam:Amidohydro_4 22 176 2.5e-9 PFAM
Pfam:Amidohydro_1 27 134 2.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132944
Predicted Effect probably benign
Transcript: ENSMUST00000138685
SMART Domains Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820

DomainStartEndE-ValueType
Pfam:Amidohydro_1 5 57 1.1e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,647 (GRCm39) probably benign Het
Agtpbp1 A G 13: 59,647,834 (GRCm39) V662A possibly damaging Het
Ambra1 T G 2: 91,599,429 (GRCm39) V183G possibly damaging Het
Ankdd1a C T 9: 65,417,654 (GRCm39) V133I probably benign Het
Ankrd35 A G 3: 96,592,129 (GRCm39) K805R probably damaging Het
Arhgap28 T C 17: 68,182,583 (GRCm39) Q270R probably benign Het
Cabp2 G A 19: 4,135,698 (GRCm39) probably null Het
Ccnt1 A G 15: 98,441,850 (GRCm39) S473P probably benign Het
Cenpt G A 8: 106,572,973 (GRCm39) P373S possibly damaging Het
Cyp3a44 T A 5: 145,731,254 (GRCm39) D182V probably damaging Het
Ddx54 A G 5: 120,765,127 (GRCm39) T799A probably benign Het
Dtna T A 18: 23,755,071 (GRCm39) D464E probably damaging Het
E030025P04Rik T C 11: 109,030,425 (GRCm39) Y154C unknown Het
Ephb2 C A 4: 136,498,433 (GRCm39) E215D probably benign Het
Eya4 T C 10: 22,992,724 (GRCm39) D445G probably damaging Het
Flg2 A T 3: 93,127,683 (GRCm39) L2198F unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klhl22 T C 16: 17,607,181 (GRCm39) F496L probably benign Het
Numa1 A T 7: 101,639,778 (GRCm39) probably null Het
Papola T C 12: 105,772,763 (GRCm39) probably benign Het
Phldb1 T C 9: 44,607,440 (GRCm39) E1255G probably damaging Het
Rgs8 A T 1: 153,568,619 (GRCm39) D168V probably damaging Het
Rlf A G 4: 121,004,522 (GRCm39) V1486A probably damaging Het
Rpa2 G T 4: 132,501,156 (GRCm39) A118S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina1f T A 12: 103,659,953 (GRCm39) I110F probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Sh2b3 A G 5: 121,966,986 (GRCm39) Y43H probably damaging Het
Shank2 A G 7: 143,963,955 (GRCm39) E514G probably damaging Het
Slc44a5 T C 3: 153,963,387 (GRCm39) F388S probably benign Het
Spmip6 A T 4: 41,505,135 (GRCm39) V196D possibly damaging Het
Tmem176b T C 6: 48,815,266 (GRCm39) N9S possibly damaging Het
Trip11 T A 12: 101,851,790 (GRCm39) Q758L probably benign Het
Trrap T A 5: 144,720,856 (GRCm39) I231N possibly damaging Het
Ttn A T 2: 76,730,397 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,870,973 (GRCm39) N770S probably damaging Het
Vmn2r73 A T 7: 85,519,544 (GRCm39) Y471* probably null Het
Vmn2r8 T G 5: 108,949,589 (GRCm39) E419D probably benign Het
Wdfy4 C A 14: 32,689,604 (GRCm39) L2818F probably damaging Het
Zfhx4 A T 3: 5,308,205 (GRCm39) Y477F probably damaging Het
Other mutations in Amdhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Amdhd2 APN 17 24,382,574 (GRCm39) missense probably benign 0.38
IGL01868:Amdhd2 APN 17 24,376,504 (GRCm39) missense probably damaging 1.00
IGL02889:Amdhd2 APN 17 24,376,761 (GRCm39) missense probably damaging 1.00
IGL03127:Amdhd2 APN 17 24,376,712 (GRCm39) critical splice donor site probably null
R0619:Amdhd2 UTSW 17 24,375,562 (GRCm39) missense possibly damaging 0.65
R0759:Amdhd2 UTSW 17 24,380,587 (GRCm39) missense probably benign 0.02
R0970:Amdhd2 UTSW 17 24,375,544 (GRCm39) critical splice donor site probably null
R1657:Amdhd2 UTSW 17 24,375,029 (GRCm39) missense probably damaging 1.00
R1929:Amdhd2 UTSW 17 24,376,860 (GRCm39) splice site probably null
R2080:Amdhd2 UTSW 17 24,375,578 (GRCm39) missense probably benign 0.00
R2127:Amdhd2 UTSW 17 24,377,282 (GRCm39) critical splice donor site probably null
R2871:Amdhd2 UTSW 17 24,376,829 (GRCm39) unclassified probably benign
R4419:Amdhd2 UTSW 17 24,377,652 (GRCm39) missense probably benign 0.31
R5681:Amdhd2 UTSW 17 24,375,014 (GRCm39) missense probably damaging 1.00
R6315:Amdhd2 UTSW 17 24,377,330 (GRCm39) missense probably benign 0.00
R7402:Amdhd2 UTSW 17 24,380,657 (GRCm39) missense
R8276:Amdhd2 UTSW 17 24,382,574 (GRCm39) missense probably damaging 0.98
R8831:Amdhd2 UTSW 17 24,376,712 (GRCm39) critical splice donor site probably null
R9327:Amdhd2 UTSW 17 24,377,421 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACAGGCAACATGGCATTGAAG -3'
(R):5'- TGCCTGCTAGAACTACCTCTG -3'

Sequencing Primer
(F):5'- CAACATGGCATTGAAGAGGTG -3'
(R):5'- ACTTGGAGGGCCCATTCATCAG -3'
Posted On 2018-05-04