Incidental Mutation 'R4419:Amdhd2'
ID 327023
Institutional Source Beutler Lab
Gene Symbol Amdhd2
Ensembl Gene ENSMUSG00000036820
Gene Name amidohydrolase domain containing 2
Synonyms 5730457F11Rik
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24374807-24382740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24377652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 126 (P126L)
Ref Sequence ENSEMBL: ENSMUSP00000036141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040735] [ENSMUST00000129523]
AlphaFold Q8JZV7
Predicted Effect probably benign
Transcript: ENSMUST00000040735
AA Change: P126L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
AA Change: P126L

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
AA Change: P135L

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820
AA Change: P135L

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P probably benign 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
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
R6413:Amdhd2 UTSW 17 24,377,290 (GRCm39) missense probably damaging 1.00
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'- TTTCCCGGCTGATGAATGG -3'
(R):5'- GGTAGGTCATCAAGTAGTCCTGG -3'

Sequencing Primer
(F):5'- GCTGATGAATGGGCCCTC -3'
(R):5'- CATCAAGTAGTCCTGGTTGTCAG -3'
Posted On 2015-07-07