Incidental Mutation 'R7605:Asphd2'
ID 588231
Institutional Source Beutler Lab
Gene Symbol Asphd2
Ensembl Gene ENSMUSG00000029348
Gene Name aspartate beta-hydroxylase domain containing 2
Synonyms 9230106G13Rik, 2900006N09Rik
MMRRC Submission 045675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 112532220-112542732 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112539807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 9 (W9R)
Ref Sequence ENSEMBL: ENSMUSP00000031291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031291] [ENSMUST00000196256] [ENSMUST00000197585] [ENSMUST00000199095] [ENSMUST00000199906] [ENSMUST00000200227]
AlphaFold Q80VP9
Predicted Effect probably damaging
Transcript: ENSMUST00000031291
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031291
Gene: ENSMUSG00000029348
AA Change: W9R

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 166 325 8.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196256
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143290
Gene: ENSMUSG00000029348
AA Change: W9R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197585
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142418
Gene: ENSMUSG00000029348
AA Change: W9R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199095
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000199906
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142332
Gene: ENSMUSG00000029348
AA Change: W9R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 52 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200227
AA Change: W9R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142729
Gene: ENSMUSG00000029348
AA Change: W9R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,881,899 (GRCm39) L610P probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Casp6 A T 3: 129,705,812 (GRCm39) M160L probably benign Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Col24a1 A T 3: 145,244,442 (GRCm39) Y1572F possibly damaging Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Robo1 C A 16: 72,821,189 (GRCm39) R1310S probably benign Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Specc1 A G 11: 62,102,506 (GRCm39) S942G possibly damaging Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V possibly damaging Het
Other mutations in Asphd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0487:Asphd2 UTSW 5 112,539,501 (GRCm39) missense possibly damaging 0.76
R0836:Asphd2 UTSW 5 112,539,635 (GRCm39) missense probably damaging 1.00
R1255:Asphd2 UTSW 5 112,539,677 (GRCm39) missense probably damaging 1.00
R4751:Asphd2 UTSW 5 112,539,612 (GRCm39) missense probably damaging 1.00
R5508:Asphd2 UTSW 5 112,534,649 (GRCm39) missense probably damaging 1.00
R5936:Asphd2 UTSW 5 112,533,623 (GRCm39) nonsense probably null
R6351:Asphd2 UTSW 5 112,533,698 (GRCm39) missense probably damaging 0.99
R8339:Asphd2 UTSW 5 112,539,501 (GRCm39) missense possibly damaging 0.76
R9041:Asphd2 UTSW 5 112,539,768 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACATGGACCCATTCTGCAGC -3'
(R):5'- CTGTTCATCAATGGAGCCCTTG -3'

Sequencing Primer
(F):5'- ATTCTGCAGCCCGTTGG -3'
(R):5'- CTTGGCAGGAACCGAGG -3'
Posted On 2019-10-24