Incidental Mutation 'R3618:Drp2'
ID 268540
Institutional Source Beutler Lab
Gene Symbol Drp2
Ensembl Gene ENSMUSG00000000223
Gene Name dystrophin related protein 2
Synonyms
MMRRC Submission 040675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R3618 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 133305300-133357322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 133340717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 458 (D458A)
Ref Sequence ENSEMBL: ENSMUSP00000108850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113224] [ENSMUST00000113226] [ENSMUST00000113228] [ENSMUST00000153424]
AlphaFold Q05AA6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000000228
Predicted Effect probably benign
Transcript: ENSMUST00000113224
AA Change: D458A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108850
Gene: ENSMUSG00000000223
AA Change: D458A

DomainStartEndE-ValueType
SPEC 129 251 5e-7 SMART
SPEC 258 360 6.4e-7 SMART
WW 377 409 4.6e-10 SMART
Pfam:EF-hand_2 410 528 9.5e-36 PFAM
Pfam:EF-hand_3 532 623 9.1e-35 PFAM
ZnF_ZZ 628 673 1e-17 SMART
coiled coil region 800 900 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113226
AA Change: D434A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108852
Gene: ENSMUSG00000000223
AA Change: D434A

DomainStartEndE-ValueType
SPEC 105 227 7.58e-5 SMART
SPEC 234 336 1e-4 SMART
WW 353 385 8.03e-8 SMART
Pfam:EF-hand_3 508 599 2e-35 PFAM
ZnF_ZZ 604 649 2.03e-15 SMART
coiled coil region 776 876 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113228
AA Change: D434A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108854
Gene: ENSMUSG00000000223
AA Change: D434A

DomainStartEndE-ValueType
SPEC 105 227 7.58e-5 SMART
SPEC 234 336 1e-4 SMART
WW 353 385 8.03e-8 SMART
Pfam:EF-hand_3 508 599 2e-35 PFAM
ZnF_ZZ 604 649 2.03e-15 SMART
coiled coil region 776 876 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142146
Predicted Effect probably benign
Transcript: ENSMUST00000153424
AA Change: D434A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115246
Gene: ENSMUSG00000000223
AA Change: D434A

DomainStartEndE-ValueType
SPEC 105 227 7.58e-5 SMART
SPEC 234 336 1e-4 SMART
WW 353 385 8.03e-8 SMART
Pfam:EF-hand_3 508 599 2e-35 PFAM
ZnF_ZZ 604 649 2.03e-15 SMART
coiled coil region 776 876 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a conditional allele activated in peripheral nerves exhibit abnormal Scwann cell morphology, supernumerary Schwann cell, abnormal myelin sheath morphology and hypermyelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,168 (GRCm39) E1119G probably damaging Het
Ahnak2 A G 12: 112,749,842 (GRCm39) I132T probably damaging Het
Arhgap29 G A 3: 121,782,176 (GRCm39) D63N possibly damaging Het
Bsn T A 9: 107,994,760 (GRCm39) probably null Het
Cfap161 A C 7: 83,429,390 (GRCm39) Y209* probably null Het
Efcab6 T C 15: 83,834,270 (GRCm39) H446R probably benign Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
F13a1 G A 13: 37,127,967 (GRCm39) T337I probably damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Hcfc1 A T X: 72,993,694 (GRCm39) V1157D probably benign Het
Inava A C 1: 136,142,110 (GRCm39) V663G probably benign Het
Ino80 T C 2: 119,277,353 (GRCm39) D374G probably null Het
Kif1a T C 1: 93,004,765 (GRCm39) E143G probably null Het
Larp1 A T 11: 57,948,172 (GRCm39) E990D probably benign Het
Larp7 C A 3: 127,330,614 (GRCm39) E568* probably null Het
Ltn1 A T 16: 87,217,787 (GRCm39) S298R probably damaging Het
Mcm10 A G 2: 5,001,913 (GRCm39) probably null Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Mroh1 A G 15: 76,336,546 (GRCm39) T1590A possibly damaging Het
Ncoa6 A T 2: 155,249,709 (GRCm39) H1198Q possibly damaging Het
Ogg1 A G 6: 113,305,334 (GRCm39) E49G probably damaging Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Parp3 T C 9: 106,352,262 (GRCm39) E88G possibly damaging Het
Ptprs A G 17: 56,735,965 (GRCm39) I156T probably benign Het
Pus7l T A 15: 94,425,788 (GRCm39) I538F probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Ryr2 C T 13: 11,787,466 (GRCm39) probably null Het
Slc8a2 A G 7: 15,886,824 (GRCm39) N656D possibly damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tbcel T C 9: 42,372,591 (GRCm39) probably benign Het
Trpv3 A T 11: 73,186,281 (GRCm39) I691F probably damaging Het
Uba2 A G 7: 33,853,907 (GRCm39) probably null Het
Usp53 A C 3: 122,728,061 (GRCm39) S840R probably benign Het
Vmn2r100 A T 17: 19,743,692 (GRCm39) I452F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Zfp42 T C 8: 43,748,938 (GRCm39) R188G possibly damaging Het
Other mutations in Drp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1119:Drp2 UTSW X 133,342,071 (GRCm39) missense probably damaging 1.00
R1864:Drp2 UTSW X 133,327,864 (GRCm39) missense probably benign 0.03
R4367:Drp2 UTSW X 133,335,884 (GRCm39) intron probably benign
R4371:Drp2 UTSW X 133,335,884 (GRCm39) intron probably benign
R4993:Drp2 UTSW X 133,342,065 (GRCm39) missense probably damaging 0.99
R4994:Drp2 UTSW X 133,342,065 (GRCm39) missense probably damaging 0.99
R4996:Drp2 UTSW X 133,342,065 (GRCm39) missense probably damaging 0.99
Z1177:Drp2 UTSW X 133,337,791 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACAAGCTTATGGCCGACTTG -3'
(R):5'- CACCAAGGCCAATGGAGATG -3'

Sequencing Primer
(F):5'- GCCGACTTGCCAATGATTG -3'
(R):5'- CCCCATTGGATTAATTGGGCAG -3'
Posted On 2015-02-19