Incidental Mutation 'R0269:Hddc2'
ID 35153
Institutional Source Beutler Lab
Gene Symbol Hddc2
Ensembl Gene ENSMUSG00000000295
Gene Name HD domain containing 2
Synonyms 2310057G13Rik
MMRRC Submission 038495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0269 (G1)
Quality Score 175
Status Validated
Chromosome 10
Chromosomal Location 31189379-31204200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31203942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 190 (M190V)
Ref Sequence ENSEMBL: ENSMUSP00000000304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000000305] [ENSMUST00000159194] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000215515] [ENSMUST00000214644]
AlphaFold Q3SXD3
Predicted Effect probably benign
Transcript: ENSMUST00000000304
AA Change: M190V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: M190V

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
HDc 37 152 3.51e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000000305
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296

DomainStartEndE-ValueType
Pfam:TPD52 9 187 1.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159194
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295

DomainStartEndE-ValueType
Pfam:HD_3 1 100 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159659
Predicted Effect probably benign
Transcript: ENSMUST00000213528
Predicted Effect probably benign
Transcript: ENSMUST00000213639
Predicted Effect probably benign
Transcript: ENSMUST00000215515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214047
Predicted Effect probably benign
Transcript: ENSMUST00000214644
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.1%
  • 20x: 93.6%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,838,201 (GRCm39) V231I possibly damaging Het
Abca1 T C 4: 53,044,228 (GRCm39) D1798G probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Amhr2 T C 15: 102,355,503 (GRCm39) C189R probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
AW551984 T C 9: 39,511,246 (GRCm39) Y153C probably damaging Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Cd46 T G 1: 194,746,996 (GRCm39) I339L probably benign Het
Cdkn2aip A G 8: 48,165,012 (GRCm39) S234P probably damaging Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Csf2rb2 G T 15: 78,173,065 (GRCm39) T265N probably benign Het
Cyp2c40 A G 19: 39,762,340 (GRCm39) F436L probably damaging Het
D130040H23Rik T C 8: 69,753,446 (GRCm39) F24S probably benign Het
Defb12 G T 8: 19,164,375 (GRCm39) A34E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Gldc T A 19: 30,096,002 (GRCm39) I670F probably damaging Het
Guf1 A C 5: 69,716,942 (GRCm39) Q168P probably damaging Het
Hcn2 A G 10: 79,570,075 (GRCm39) probably benign Het
Kcnq2 T C 2: 180,738,767 (GRCm39) E294G probably benign Het
Kdelr1 T A 7: 45,523,463 (GRCm39) probably benign Het
Kidins220 T A 12: 25,090,511 (GRCm39) H1158Q probably damaging Het
Laptm5 A T 4: 130,658,127 (GRCm39) N185Y probably benign Het
Mgat4a A G 1: 37,529,388 (GRCm39) Y164H possibly damaging Het
Mlh3 C A 12: 85,315,179 (GRCm39) V336L probably benign Het
Myadm A G 7: 3,345,273 (GRCm39) T12A unknown Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or8g34 T C 9: 39,373,090 (GRCm39) M118T probably damaging Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Recql5 T C 11: 115,819,050 (GRCm39) D172G possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Rgs7 A G 1: 175,098,386 (GRCm39) S58P possibly damaging Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Sgsm1 T C 5: 113,434,795 (GRCm39) probably null Het
Slc22a19 A T 19: 7,686,986 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,936,332 (GRCm39) Y428* probably null Het
Smarca4 T G 9: 21,547,497 (GRCm39) M260R probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata17 T C 1: 186,830,069 (GRCm39) I322V probably benign Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Sult1d1 A T 5: 87,712,661 (GRCm39) I61N probably damaging Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Trmt11 T A 10: 30,463,485 (GRCm39) H210L probably benign Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ush2a T A 1: 188,542,373 (GRCm39) M3313K probably benign Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R probably damaging Het
Other mutations in Hddc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Hddc2 APN 10 31,192,330 (GRCm39) missense probably damaging 0.99
IGL01791:Hddc2 APN 10 31,202,022 (GRCm39) missense probably damaging 1.00
IGL02069:Hddc2 APN 10 31,192,314 (GRCm39) missense probably damaging 1.00
IGL03048:Hddc2 UTSW 10 31,192,332 (GRCm39) missense possibly damaging 0.95
R1761:Hddc2 UTSW 10 31,202,135 (GRCm39) missense probably damaging 0.99
R4290:Hddc2 UTSW 10 31,190,583 (GRCm39) missense possibly damaging 0.64
R4292:Hddc2 UTSW 10 31,190,583 (GRCm39) missense possibly damaging 0.64
R4655:Hddc2 UTSW 10 31,204,016 (GRCm39) unclassified probably benign
R5025:Hddc2 UTSW 10 31,203,949 (GRCm39) missense probably benign 0.06
R7448:Hddc2 UTSW 10 31,189,412 (GRCm39) start codon destroyed probably null
R7902:Hddc2 UTSW 10 31,196,338 (GRCm39) splice site probably null
R7902:Hddc2 UTSW 10 31,192,289 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCGTTCCTGATAAAGGCGCTC -3'
(R):5'- TGTGCATTTCCAGTTCAGTGGCTTC -3'

Sequencing Primer
(F):5'- CTTGATGTAGAATCTCCTGCTTG -3'
(R):5'- CCAGTTCAGTGGCTTCTTTTAG -3'
Posted On 2013-05-09