Incidental Mutation 'R2873:Hdhd2'
ID 260437
Institutional Source Beutler Lab
Gene Symbol Hdhd2
Ensembl Gene ENSMUSG00000025421
Gene Name haloacid dehalogenase-like hydrolase domain containing 2
Synonyms 3110052N05Rik, 0610039H12Rik
MMRRC Submission 040461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2873 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 77031775-77059867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77042702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 44 (F44L)
Ref Sequence ENSEMBL: ENSMUSP00000116152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026485] [ENSMUST00000097521] [ENSMUST00000097522] [ENSMUST00000142456] [ENSMUST00000143910] [ENSMUST00000145634] [ENSMUST00000148955] [ENSMUST00000147332] [ENSMUST00000150990] [ENSMUST00000156454]
AlphaFold Q3UGR5
Predicted Effect probably damaging
Transcript: ENSMUST00000026485
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.1e-21 PFAM
Pfam:HAD_2 167 223 1e-7 PFAM
Pfam:Hydrolase_like 176 251 3.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097521
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 123 4.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097522
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142456
SMART Domains Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Yos1 5 66 4.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143910
AA Change: F44L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 116 2.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145634
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148955
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147332
AA Change: F44L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 123 4.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150990
AA Change: F44L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156454
AA Change: F44L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421
AA Change: F44L

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 60 1.6e-13 PFAM
Meta Mutation Damage Score 0.7251 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (81/81)
MGI Phenotype PHENOTYPE: Mice homozygous for a transposon insertion results in complete embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Acvr1 G A 2: 58,367,808 (GRCm39) Q118* probably null Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ankrd40 T C 11: 94,224,771 (GRCm39) V60A possibly damaging Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp13a2 T C 4: 140,730,294 (GRCm39) I773T probably benign Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Ccdc162 G T 10: 41,531,095 (GRCm39) T537N possibly damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cd101 A T 3: 100,911,164 (GRCm39) D831E probably benign Het
Ch25h T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Chek2 C A 5: 111,011,202 (GRCm39) Y333* probably null Het
Cimap1d G A 10: 79,481,487 (GRCm39) T14I probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Flnc A G 6: 29,447,542 (GRCm39) D1115G probably damaging Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Gm5519 A C 19: 33,802,410 (GRCm39) D151A possibly damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mdm1 A G 10: 117,986,847 (GRCm39) T267A probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Ndufs1 A G 1: 63,203,882 (GRCm39) probably benign Het
Nlrp4b C T 7: 10,444,170 (GRCm39) Q40* probably null Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notch1 A G 2: 26,350,247 (GRCm39) C2298R possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Pms2 G A 5: 143,848,732 (GRCm39) probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Ptger4 T C 15: 5,264,286 (GRCm39) R457G probably benign Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Ralgds A G 2: 28,438,781 (GRCm39) probably null Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Sgk2 A G 2: 162,836,449 (GRCm39) probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc4a4 G T 5: 89,283,623 (GRCm39) V481L probably damaging Het
Slc5a8 A G 10: 88,740,825 (GRCm39) I247V probably benign Het
Slit3 G T 11: 35,435,620 (GRCm39) E184* probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tet2 C T 3: 133,192,715 (GRCm39) G573E probably damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Usp9y T A Y: 1,310,502 (GRCm39) probably benign Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Other mutations in Hdhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Hdhd2 APN 18 77,052,969 (GRCm39) splice site probably null
IGL01102:Hdhd2 APN 18 77,044,607 (GRCm39) missense probably damaging 1.00
R0021:Hdhd2 UTSW 18 77,058,311 (GRCm39) missense probably damaging 1.00
R0021:Hdhd2 UTSW 18 77,058,311 (GRCm39) missense probably damaging 1.00
R0717:Hdhd2 UTSW 18 77,038,900 (GRCm39) missense possibly damaging 0.94
R1958:Hdhd2 UTSW 18 77,052,841 (GRCm39) missense probably benign
R2060:Hdhd2 UTSW 18 77,052,738 (GRCm39) splice site probably null
R2266:Hdhd2 UTSW 18 77,052,866 (GRCm39) missense probably benign 0.00
R2268:Hdhd2 UTSW 18 77,052,866 (GRCm39) missense probably benign 0.00
R2269:Hdhd2 UTSW 18 77,052,866 (GRCm39) missense probably benign 0.00
R2871:Hdhd2 UTSW 18 77,042,702 (GRCm39) missense probably damaging 1.00
R2871:Hdhd2 UTSW 18 77,042,702 (GRCm39) missense probably damaging 1.00
R2872:Hdhd2 UTSW 18 77,042,702 (GRCm39) missense probably damaging 1.00
R2872:Hdhd2 UTSW 18 77,042,702 (GRCm39) missense probably damaging 1.00
R3788:Hdhd2 UTSW 18 77,042,883 (GRCm39) critical splice donor site probably null
R3789:Hdhd2 UTSW 18 77,042,883 (GRCm39) critical splice donor site probably null
R5784:Hdhd2 UTSW 18 77,054,841 (GRCm39) missense probably damaging 1.00
R7403:Hdhd2 UTSW 18 77,042,736 (GRCm39) missense probably benign 0.00
R7406:Hdhd2 UTSW 18 77,031,811 (GRCm39) missense probably benign 0.01
R7644:Hdhd2 UTSW 18 77,031,871 (GRCm39) missense possibly damaging 0.79
R7849:Hdhd2 UTSW 18 77,052,962 (GRCm39) missense probably damaging 1.00
R8992:Hdhd2 UTSW 18 77,058,366 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- GCCCACAGGGTGTGTATCATTTG -3'
(R):5'- ATCCCCACGTGAAGAACTTGG -3'

Sequencing Primer
(F):5'- GTAGGCATTCTGAGTAGATTAAAAGC -3'
(R):5'- CACGTGAAGAACTTGGTCAACTTCTC -3'
Posted On 2015-01-23