Incidental Mutation 'R5988:Ddhd2'
ID 481826
Institutional Source Beutler Lab
Gene Symbol Ddhd2
Ensembl Gene ENSMUSG00000061313
Gene Name DDHD domain containing 2
Synonyms SAMWD1, 2010305K11Rik
MMRRC Submission 044168-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R5988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26215351-26244502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26238589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 64 (R64C)
Ref Sequence ENSEMBL: ENSMUSP00000147702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000211009] [ENSMUST00000211688] [ENSMUST00000211751]
AlphaFold Q80Y98
Predicted Effect probably damaging
Transcript: ENSMUST00000033975
AA Change: R230C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
AA Change: R230C

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: ENSMUST00000209419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210843
Predicted Effect probably benign
Transcript: ENSMUST00000210888
Predicted Effect probably damaging
Transcript: ENSMUST00000211009
AA Change: R230C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211688
AA Change: R342C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211751
AA Change: R64C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 84.3%
Validation Efficiency
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,715,030 (GRCm39) M615K possibly damaging Het
Acvr1c A T 2: 58,205,886 (GRCm39) C25S probably damaging Het
Adk A T 14: 21,473,616 (GRCm39) E291V probably benign Het
Ahnak C A 19: 8,986,711 (GRCm39) probably benign Het
Alg11 A G 8: 22,552,044 (GRCm39) T63A probably benign Het
Alox12 A T 11: 70,142,413 (GRCm39) S272T probably benign Het
Armc10 T A 5: 21,865,581 (GRCm39) S195T probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Baat G A 4: 49,502,871 (GRCm39) P84S probably damaging Het
BB014433 G A 8: 15,091,854 (GRCm39) T333I probably damaging Het
BC035947 G A 1: 78,475,843 (GRCm39) R230* probably null Het
Bcr G A 10: 75,011,167 (GRCm39) G26E probably benign Het
Ccdc88b T C 19: 6,833,348 (GRCm39) E233G probably damaging Het
Cep295 A G 9: 15,252,770 (GRCm39) F353L probably damaging Het
Chd8 T C 14: 52,455,395 (GRCm39) M1031V probably damaging Het
Col17a1 C G 19: 47,642,659 (GRCm39) G885R probably damaging Het
Cyp11a1 A C 9: 57,928,117 (GRCm39) I214L probably benign Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Dll3 A G 7: 27,993,537 (GRCm39) W561R probably damaging Het
Dnajc3 T C 14: 119,195,376 (GRCm39) V97A possibly damaging Het
Drosha C T 15: 12,834,582 (GRCm39) probably benign Het
E2f8 T C 7: 48,524,743 (GRCm39) D302G probably damaging Het
Ecd C G 14: 20,374,629 (GRCm39) D504H probably damaging Het
Eif1ad15 T A 12: 88,288,202 (GRCm39) N17I unknown Het
Eif4g2 C A 7: 110,676,437 (GRCm39) V331L probably benign Het
Fam124a T C 14: 62,824,986 (GRCm39) I160T possibly damaging Het
Fat1 A G 8: 45,482,493 (GRCm39) T3051A probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm572 A G 4: 148,752,964 (GRCm39) E281G possibly damaging Het
Gm9944 T C 4: 144,179,775 (GRCm39) probably benign Het
Gstm5 A C 3: 107,803,270 (GRCm39) M1L probably benign Het
Havcr1 A G 11: 46,646,964 (GRCm39) T133A probably damaging Het
Hey1 T G 3: 8,731,379 (GRCm39) S68R probably damaging Het
Hsf2bp C T 17: 32,230,149 (GRCm39) probably null Het
Id2 T C 12: 25,145,723 (GRCm39) N96S probably benign Het
Ifi206 A C 1: 173,308,906 (GRCm39) S363R possibly damaging Het
Il21r T C 7: 125,231,460 (GRCm39) F296S probably damaging Het
Irgm2 A G 11: 58,111,013 (GRCm39) T247A probably benign Het
Irx5 T A 8: 93,087,299 (GRCm39) Y410* probably null Het
Kmt2c A G 5: 25,516,118 (GRCm39) I2575T probably benign Het
Lmbrd2 T A 15: 9,182,493 (GRCm39) probably null Het
Lrig1 A C 6: 94,605,023 (GRCm39) S191A probably damaging Het
Lrrc37 T C 11: 103,506,722 (GRCm39) probably benign Het
Lypd6b T A 2: 49,836,178 (GRCm39) C120S probably damaging Het
Mpdz A G 4: 81,202,812 (GRCm39) probably null Het
Myh6 G T 14: 55,202,851 (GRCm39) R23S probably damaging Het
Nat8f6 C T 6: 85,786,040 (GRCm39) M36I probably benign Het
Nol8 T A 13: 49,826,090 (GRCm39) M970K possibly damaging Het
Nrxn2 T C 19: 6,542,901 (GRCm39) F1042L possibly damaging Het
Nup160 T C 2: 90,519,553 (GRCm39) W277R probably damaging Het
Ogfr A T 2: 180,236,026 (GRCm39) T204S probably damaging Het
Or10j5 T A 1: 172,784,723 (GRCm39) Y120* probably null Het
Or1ak2 A G 2: 36,827,236 (GRCm39) Y35C probably damaging Het
Or1p1 T C 11: 74,179,679 (GRCm39) V69A probably benign Het
Or2n1d T C 17: 38,646,911 (GRCm39) F288L probably damaging Het
Or52n2b A T 7: 104,566,125 (GRCm39) V126E probably damaging Het
Or8c20 T C 9: 38,261,045 (GRCm39) V222A probably benign Het
Pcdh15 A G 10: 74,215,189 (GRCm39) I648V probably benign Het
Pced1b T A 15: 97,282,228 (GRCm39) V89E probably damaging Het
Phax G T 18: 56,708,564 (GRCm39) A43S probably benign Het
Phf20 A G 2: 156,149,250 (GRCm39) E976G probably damaging Het
Plin4 T C 17: 56,416,567 (GRCm39) T8A probably benign Het
Plxna1 G A 6: 89,334,522 (GRCm39) Q36* probably null Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Ppp1r26 T A 2: 28,342,566 (GRCm39) V732E probably benign Het
Pramel5 A T 4: 143,999,716 (GRCm39) C124S possibly damaging Het
Prorp T A 12: 55,424,002 (GRCm39) M441K probably damaging Het
Prr14l C A 5: 32,988,195 (GRCm39) L433F probably damaging Het
Ptpn14 A G 1: 189,582,584 (GRCm39) Y477C probably damaging Het
Rcl1 T A 19: 29,099,167 (GRCm39) I154N probably damaging Het
Rfpl4 T C 7: 5,118,501 (GRCm39) Y23C probably damaging Het
Rims1 T C 1: 22,635,544 (GRCm39) K146E probably damaging Het
Rims2 A T 15: 39,155,577 (GRCm39) K126M probably damaging Het
Rpusd4 T A 9: 35,183,816 (GRCm39) probably null Het
Scn7a C T 2: 66,556,558 (GRCm39) W342* probably null Het
Sh3pxd2a A G 19: 47,353,077 (GRCm39) V128A probably benign Het
Slc15a5 T C 6: 138,020,529 (GRCm39) H268R probably benign Het
Slc22a3 T C 17: 12,652,782 (GRCm39) I321V possibly damaging Het
Slc7a6os A G 8: 106,928,965 (GRCm39) S231P probably benign Het
Smad5 T C 13: 56,883,798 (GRCm39) S395P probably damaging Het
Sorbs3 G A 14: 70,440,752 (GRCm39) T20I probably benign Het
Spata9 A G 13: 76,116,236 (GRCm39) I42V probably benign Het
Srl C T 16: 4,340,892 (GRCm39) C9Y unknown Het
Sugp2 T C 8: 70,695,875 (GRCm39) F283L probably benign Het
Syne2 T C 12: 75,976,191 (GRCm39) probably null Het
Taar6 A G 10: 23,861,154 (GRCm39) Y131H probably damaging Het
Tango2 T C 16: 18,120,554 (GRCm39) T137A probably damaging Het
Tas2r106 T A 6: 131,655,606 (GRCm39) I82L probably benign Het
Tbc1d32 T C 10: 55,964,433 (GRCm39) E922G probably damaging Het
Tgfb2 G T 1: 186,436,778 (GRCm39) P65Q probably benign Het
Tjp2 T G 19: 24,091,464 (GRCm39) I566L probably benign Het
Tnrc6a T A 7: 122,781,603 (GRCm39) N1424K probably damaging Het
Trim7 A T 11: 48,728,513 (GRCm39) M54L probably benign Het
Trpm1 T A 7: 63,876,553 (GRCm39) S535R probably benign Het
Tsc2 T A 17: 24,839,740 (GRCm39) N417I probably damaging Het
Ttn T C 2: 76,800,132 (GRCm39) R359G probably benign Het
Vim A G 2: 13,587,296 (GRCm39) T458A probably benign Het
Vps11 A T 9: 44,265,221 (GRCm39) S612R probably benign Het
Wdfy3 A G 5: 102,032,004 (GRCm39) S2273P probably benign Het
Wwox G T 8: 115,433,081 (GRCm39) R249L probably benign Het
Zbtb4 G T 11: 69,669,790 (GRCm39) G838C probably damaging Het
Zkscan3 A T 13: 21,580,461 (GRCm39) C76S probably damaging Het
Znrf3 C T 11: 5,231,776 (GRCm39) C483Y probably damaging Het
Zscan2 A G 7: 80,525,947 (GRCm39) K556R possibly 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
R2044:Ddhd2 UTSW 8 26,242,192 (GRCm39) missense probably damaging 1.00
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
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'- AGGGAAGCTTCACTCCTTTC -3'
(R):5'- AGTGCGTGAATAGCACCAG -3'

Sequencing Primer
(F):5'- TTCTCAGCATCCTTAGCTACAAAG -3'
(R):5'- CCCAAACTCGGCCATGG -3'
Posted On 2017-06-26