Incidental Mutation 'R2044:Ddhd2'
ID 221668
Institutional Source Beutler Lab
Gene Symbol Ddhd2
Ensembl Gene ENSMUSG00000061313
Gene Name DDHD domain containing 2
Synonyms SAMWD1, 2010305K11Rik
MMRRC Submission 040051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R2044 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26215351-26244502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26242192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 116 (F116L)
Ref Sequence ENSEMBL: ENSMUSP00000147769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000211009] [ENSMUST00000211688] [ENSMUST00000211751]
AlphaFold Q80Y98
Predicted Effect probably damaging
Transcript: ENSMUST00000033975
AA Change: F116L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: F116L

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Pfam:WWE 40 112 7.5e-9 PFAM
Blast:DDHD 285 357 6e-28 BLAST
SAM 382 447 1.13e-11 SMART
DDHD 484 688 6.63e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167899
SMART Domains Protein: ENSMUSP00000130277
Gene: ENSMUSG00000091514

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209419
Predicted Effect unknown
Transcript: ENSMUST00000210888
AA Change: F98L
Predicted Effect probably damaging
Transcript: ENSMUST00000211009
AA Change: F116L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211688
AA Change: F228L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000211751
Meta Mutation Damage Score 0.8425 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (92/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a null mutation display impaired balance and coordination, impaired spatial learning and memory and triglyceride accumulation in neurons in the brain and spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 37,288,986 (GRCm39) probably benign Het
Abhd15 A G 11: 77,409,164 (GRCm39) T293A probably benign Het
Aldh1l1 C T 6: 90,539,647 (GRCm39) P192L probably benign Het
Aldoart1 T G 4: 72,770,779 (GRCm39) I10L probably benign Het
Ankhd1 G A 18: 36,778,166 (GRCm39) G1653D probably benign Het
Ankk1 A C 9: 49,330,664 (GRCm39) probably null Het
Astn1 A G 1: 158,428,072 (GRCm39) T748A possibly damaging Het
Bmp7 C A 2: 172,781,708 (GRCm39) R52L possibly damaging Het
Ccdc33 G A 9: 57,938,395 (GRCm39) P859S possibly damaging Het
Ccny A G 18: 9,449,644 (GRCm39) S10P probably damaging Het
Cdc6 C A 11: 98,801,287 (GRCm39) F179L probably benign Het
Cdc7 T A 5: 107,130,998 (GRCm39) V491E probably benign Het
Cdh23 G T 10: 60,432,509 (GRCm39) S138R possibly damaging Het
Cenpc1 T C 5: 86,185,614 (GRCm39) H299R probably benign Het
Ciart A T 3: 95,786,013 (GRCm39) M354K probably benign Het
Clasrp G T 7: 19,320,640 (GRCm39) probably benign Het
Col4a3 G A 1: 82,674,040 (GRCm39) G1132E unknown Het
Crebbp G A 16: 3,902,687 (GRCm39) T2184I probably benign Het
Cyp2r1 A C 7: 114,149,640 (GRCm39) M458R probably damaging Het
Cyp7a1 C A 4: 6,275,492 (GRCm39) R27M probably null Het
Dgkd G A 1: 87,855,413 (GRCm39) R685K probably benign Het
Dnah2 A G 11: 69,415,066 (GRCm39) S223P probably benign Het
Exph5 A T 9: 53,283,979 (GRCm39) R353S possibly damaging Het
F11 C A 8: 45,705,155 (GRCm39) V129F probably benign Het
F830045P16Rik A T 2: 129,301,317 (GRCm39) S454T possibly damaging Het
Fam124a T C 14: 62,824,656 (GRCm39) I50T probably damaging Het
Fam20c T C 5: 138,741,982 (GRCm39) probably null Het
Fam234b A G 6: 135,203,912 (GRCm39) T405A probably benign Het
Fbh1 C A 2: 11,767,781 (GRCm39) V356L possibly damaging Het
Flywch1 G A 17: 23,981,287 (GRCm39) Q132* probably null Het
Foxo6 T C 4: 120,144,166 (GRCm39) D95G probably benign Het
Ggt5 T C 10: 75,439,921 (GRCm39) F174S probably damaging Het
Gm7104 G A 12: 88,252,551 (GRCm39) noncoding transcript Het
Gpr155 A G 2: 73,203,977 (GRCm39) L279P probably damaging Het
H2-T23 A G 17: 36,343,083 (GRCm39) L98P probably damaging Het
H4c16 G C 6: 136,781,101 (GRCm39) R93G possibly damaging Het
Heatr5a A G 12: 52,002,186 (GRCm39) V250A probably benign Het
Heyl A T 4: 123,135,156 (GRCm39) I50F probably damaging Het
Ifitm10 A T 7: 141,909,771 (GRCm39) S179R probably damaging Het
Isg15 A T 4: 156,284,249 (GRCm39) I93N probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itga10 G A 3: 96,565,006 (GRCm39) V985I probably benign Het
Kcnt2 T C 1: 140,302,892 (GRCm39) I144T probably benign Het
Klk1 A C 7: 43,878,458 (GRCm39) K104T possibly damaging Het
Lemd3 C A 10: 120,769,347 (GRCm39) R654L probably damaging Het
Lmod1 A T 1: 135,292,125 (GRCm39) M327L probably benign Het
Lonrf2 T C 1: 38,846,131 (GRCm39) E347G probably benign Het
Ltbp1 A G 17: 75,583,427 (GRCm39) Y409C probably damaging Het
Mecom A T 3: 30,034,741 (GRCm39) Y312N probably damaging Het
Mmut A G 17: 41,252,342 (GRCm39) T295A probably benign Het
Mrgprb3 C T 7: 48,293,482 (GRCm39) C23Y possibly damaging Het
Nadk C A 4: 155,669,898 (GRCm39) L194I probably damaging Het
Naxd A G 8: 11,559,510 (GRCm39) I182V probably benign Het
Nbeal1 T A 1: 60,358,846 (GRCm39) I1176K probably damaging Het
Nol4l C A 2: 153,371,441 (GRCm39) R81L possibly damaging Het
Odad3 T G 9: 21,903,154 (GRCm39) T419P possibly damaging Het
Or4k47 T A 2: 111,452,159 (GRCm39) R87W probably benign Het
Or8g36 A T 9: 39,422,674 (GRCm39) M114K probably damaging Het
Or9s15 G T 1: 92,524,691 (GRCm39) R150L probably benign Het
Pcdh18 A G 3: 49,709,389 (GRCm39) V642A probably benign Het
Pdzk1 G A 3: 96,763,164 (GRCm39) probably benign Het
Per3 C T 4: 151,118,395 (GRCm39) V233I probably benign Het
Pisd G A 5: 32,922,140 (GRCm39) P267S possibly damaging Het
Prm1 T A 16: 10,614,357 (GRCm39) probably benign Het
Ptprj A G 2: 90,293,439 (GRCm39) V548A probably damaging Het
Ranbp3 G A 17: 56,980,367 (GRCm39) probably benign Het
Raver2 T A 4: 100,960,009 (GRCm39) V163D probably damaging Het
Rbm14 A T 19: 4,853,905 (GRCm39) I159N possibly damaging Het
Rfx6 G A 10: 51,594,222 (GRCm39) V381I probably benign Het
Rhobtb1 T C 10: 69,108,693 (GRCm39) probably benign Het
Rpl28-ps4 T A 6: 117,190,856 (GRCm39) noncoding transcript Het
Rsph10b A G 5: 143,904,068 (GRCm39) probably null Het
Rspo4 A G 2: 151,715,013 (GRCm39) K217E unknown Het
Scgb2b27 G A 7: 33,712,710 (GRCm39) A44V possibly damaging Het
Sec14l2 G A 11: 4,061,435 (GRCm39) probably benign Het
Sec31b T C 19: 44,524,595 (GRCm39) N101D probably benign Het
Sema6a A T 18: 47,439,496 (GRCm39) C9* probably null Het
Septin5 A C 16: 18,441,762 (GRCm39) L331R probably benign Het
Slc16a11 C A 11: 70,106,477 (GRCm39) Y238* probably null Het
Slc25a12 T C 2: 71,142,892 (GRCm39) T210A probably benign Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Szt2 A T 4: 118,233,645 (GRCm39) L2225* probably null Het
Thap12 T C 7: 98,365,827 (GRCm39) L665P probably damaging Het
Tpsb2 T A 17: 25,586,698 (GRCm39) W237R probably damaging Het
Tyk2 T C 9: 21,031,637 (GRCm39) D451G probably damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Vmn1r225 A T 17: 20,722,852 (GRCm39) T98S possibly damaging Het
Vmn1r87 A T 7: 12,865,748 (GRCm39) S180T probably benign Het
Vmn2r6 A G 3: 64,445,262 (GRCm39) V821A probably damaging Het
Zfp689 C A 7: 127,043,998 (GRCm39) G211C probably damaging Het
Zfp827 A G 8: 79,802,865 (GRCm39) D479G probably benign Het
Zfp995 A C 17: 22,099,575 (GRCm39) F220V probably damaging Het
Other mutations in Ddhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Ddhd2 APN 8 26,225,857 (GRCm39) missense probably damaging 1.00
IGL01629:Ddhd2 APN 8 26,225,855 (GRCm39) missense possibly damaging 0.91
IGL01656:Ddhd2 APN 8 26,217,739 (GRCm39) missense probably benign 0.34
IGL01723:Ddhd2 APN 8 26,225,038 (GRCm39) nonsense probably null
IGL01820:Ddhd2 APN 8 26,239,781 (GRCm39) missense possibly damaging 0.87
IGL01901:Ddhd2 APN 8 26,238,621 (GRCm39) missense probably damaging 0.96
IGL02619:Ddhd2 APN 8 26,236,981 (GRCm39) critical splice acceptor site probably null
PIT4362001:Ddhd2 UTSW 8 26,225,779 (GRCm39) missense probably damaging 1.00
R0240:Ddhd2 UTSW 8 26,229,617 (GRCm39) splice site probably null
R0240:Ddhd2 UTSW 8 26,229,617 (GRCm39) splice site probably null
R0408:Ddhd2 UTSW 8 26,229,614 (GRCm39) critical splice acceptor site probably null
R0732:Ddhd2 UTSW 8 26,231,348 (GRCm39) missense probably damaging 1.00
R1483:Ddhd2 UTSW 8 26,243,155 (GRCm39) missense probably benign 0.01
R1597:Ddhd2 UTSW 8 26,239,768 (GRCm39) missense probably benign 0.09
R1881:Ddhd2 UTSW 8 26,217,727 (GRCm39) missense probably damaging 0.99
R1927:Ddhd2 UTSW 8 26,231,688 (GRCm39) missense possibly damaging 0.92
R4494:Ddhd2 UTSW 8 26,228,261 (GRCm39) missense probably benign 0.01
R4728:Ddhd2 UTSW 8 26,242,294 (GRCm39) missense probably damaging 1.00
R5044:Ddhd2 UTSW 8 26,242,164 (GRCm39) missense probably damaging 1.00
R5138:Ddhd2 UTSW 8 26,217,726 (GRCm39) missense probably damaging 1.00
R5529:Ddhd2 UTSW 8 26,229,587 (GRCm39) missense probably benign 0.00
R5761:Ddhd2 UTSW 8 26,231,726 (GRCm39) missense probably benign 0.19
R5799:Ddhd2 UTSW 8 26,238,629 (GRCm39) missense probably damaging 1.00
R5934:Ddhd2 UTSW 8 26,243,140 (GRCm39) missense probably damaging 1.00
R5965:Ddhd2 UTSW 8 26,225,804 (GRCm39) missense probably damaging 1.00
R5988:Ddhd2 UTSW 8 26,238,589 (GRCm39) missense probably damaging 1.00
R6260:Ddhd2 UTSW 8 26,242,144 (GRCm39) missense probably benign 0.00
R6791:Ddhd2 UTSW 8 26,242,242 (GRCm39) missense probably benign 0.04
R7386:Ddhd2 UTSW 8 26,244,318 (GRCm39) missense possibly damaging 0.53
R7470:Ddhd2 UTSW 8 26,225,087 (GRCm39) missense probably benign 0.06
R7911:Ddhd2 UTSW 8 26,238,563 (GRCm39) critical splice donor site probably null
R8153:Ddhd2 UTSW 8 26,240,816 (GRCm39) missense probably benign 0.16
R8385:Ddhd2 UTSW 8 26,225,041 (GRCm39) missense probably damaging 0.99
R9190:Ddhd2 UTSW 8 26,244,495 (GRCm39) missense probably benign 0.18
R9381:Ddhd2 UTSW 8 26,239,849 (GRCm39) missense probably benign 0.17
R9497:Ddhd2 UTSW 8 26,217,731 (GRCm39) missense possibly damaging 0.92
Z1176:Ddhd2 UTSW 8 26,225,856 (GRCm39) missense possibly damaging 0.61
Z1177:Ddhd2 UTSW 8 26,244,413 (GRCm39) missense unknown
Z1177:Ddhd2 UTSW 8 26,244,402 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTGAAACTAGCCTGCAGAGAG -3'
(R):5'- GCTGTTTTGGACTGTAACTTACAAG -3'

Sequencing Primer
(F):5'- ACTAGCCTGCAGAGAGAAATTAC -3'
(R):5'- GGACTGTAACTTACAAGTGTATTTGG -3'
Posted On 2014-08-25