Incidental Mutation 'R4993:Drp2'
ID 385063
Institutional Source Beutler Lab
Gene Symbol Drp2
Ensembl Gene ENSMUSG00000000223
Gene Name dystrophin related protein 2
Synonyms
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4993 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 133305300-133357322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133342065 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Arginine to Histidine at position 567 (R567H)
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 damaging
Transcript: ENSMUST00000113224
AA Change: R567H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108850
Gene: ENSMUSG00000000223
AA Change: R567H

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 damaging
Transcript: ENSMUST00000113226
AA Change: R543H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108852
Gene: ENSMUSG00000000223
AA Change: R543H

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 damaging
Transcript: ENSMUST00000113228
AA Change: R543H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108854
Gene: ENSMUSG00000000223
AA Change: R543H

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 damaging
Transcript: ENSMUST00000153424
AA Change: R543H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115246
Gene: ENSMUSG00000000223
AA Change: R543H

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
Meta Mutation Damage Score 0.3772 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Abca15 C A 7: 120,000,941 (GRCm39) N1492K probably damaging Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or1j20 C A 2: 36,760,000 (GRCm39) Q141K probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Scap T C 9: 110,207,458 (GRCm39) L431P probably damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Skint1 T C 4: 111,885,530 (GRCm39) probably null Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K probably benign 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
R3618:Drp2 UTSW X 133,340,717 (GRCm39) missense probably benign 0.13
R4367:Drp2 UTSW X 133,335,884 (GRCm39) intron probably benign
R4371:Drp2 UTSW X 133,335,884 (GRCm39) intron probably benign
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'- TCAGTTCAACAGTGCAGTATGC -3'
(R):5'- TGTTGCCCCATCTCAACAAAG -3'

Sequencing Primer
(F):5'- AGTTCAACAGTGCAGTATGCTCTTTC -3'
(R):5'- AAAGCTCCTGTACCTCTGAGTAC -3'
Posted On 2016-05-10