Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Drp2'

385139

Institutional Source

Beutler Lab

Gene Symbol

Drp2

Ensembl Gene

ENSMUSG00000000223

Gene Name

dystrophin related protein 2

Synonyms

MMRRC Submission

042588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4994 (G1)

Quality Score

222

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,962 (GRCm39)	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	A	G	5: 8,978,524 (GRCm39)	T557A	probably damaging	Het
Acadm	C	T	3: 153,635,221 (GRCm39)	E298K	probably damaging	Het
Adrb3	T	C	8: 27,717,855 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,803,128 (GRCm39)	Y222C	possibly damaging	Het
Ankrd6	A	G	4: 32,860,387 (GRCm39)	Y19H	probably damaging	Het
Arhgap21	T	A	2: 20,854,701 (GRCm39)	T1554S	probably benign	Het
BC043934	T	C	9: 96,319,173 (GRCm39)		noncoding transcript	Het
Birc6	A	G	17: 74,901,319 (GRCm39)		probably benign	Het
Blm	A	C	7: 80,108,573 (GRCm39)	F1357C	probably benign	Het
Cd209a	T	C	8: 3,797,713 (GRCm39)		probably null	Het
Cdk7	G	A	13: 100,854,103 (GRCm39)	H129Y	probably damaging	Het
Clec14a	G	T	12: 58,315,070 (GRCm39)	P184Q	probably damaging	Het
Cma1	T	A	14: 56,179,128 (GRCm39)	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,909,798 (GRCm39)	T769K	possibly damaging	Het
Col5a1	A	C	2: 27,922,751 (GRCm39)	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,309,129 (GRCm39)	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,284,597 (GRCm39)	L185S	probably damaging	Het
Dennd5b	T	C	6: 148,942,998 (GRCm39)		probably null	Het
Dipk2a	C	A	9: 94,419,486 (GRCm39)	R148L	probably benign	Het
Dzank1	T	G	2: 144,364,486 (GRCm39)	D37A	probably damaging	Het
Echdc2	A	G	4: 108,022,825 (GRCm39)	I34V	probably benign	Het
Esm1	A	T	13: 113,349,965 (GRCm39)	R128S	probably benign	Het
Fbh1	T	A	2: 11,769,041 (GRCm39)	I251F	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fbxo6	A	T	4: 148,233,948 (GRCm39)	S49R	probably damaging	Het
Gm17093	A	T	14: 44,756,779 (GRCm39)	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,348,067 (GRCm39)		probably null	Het
Hspa4l	C	A	3: 40,700,081 (GRCm39)		probably benign	Het
Il3ra	G	A	14: 14,351,080 (GRCm38)	A201T	probably benign	Het
Irx5	T	A	8: 93,087,409 (GRCm39)	V447E	probably damaging	Het
Kif14	G	T	1: 136,410,697 (GRCm39)	L668F	probably damaging	Het
Lag3	T	A	6: 124,881,416 (GRCm39)	R519W	unknown	Het
Lgr4	A	G	2: 109,842,283 (GRCm39)	N756S	probably damaging	Het
Lingo4	A	G	3: 94,309,848 (GRCm39)	H262R	probably benign	Het
Lingo4	T	A	3: 94,310,308 (GRCm39)	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,339,376 (GRCm39)	G25*	probably null	Het
Maco1	A	G	4: 134,555,610 (GRCm39)	Y288H	probably damaging	Het
Marf1	T	C	16: 13,932,095 (GRCm39)	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,351,133 (GRCm39)		probably benign	Het
Mtif3	G	A	5: 146,893,598 (GRCm39)	T203M	probably benign	Het
Mycbp2	A	G	14: 103,407,430 (GRCm39)	I2740T	probably benign	Het
Nrdc	A	G	4: 108,903,809 (GRCm39)	T720A	probably benign	Het
Or2d2	T	C	7: 106,728,271 (GRCm39)	T110A	probably benign	Het
Peak1	T	A	9: 56,148,560 (GRCm39)	D32V	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Plekhg3	A	G	12: 76,612,311 (GRCm39)	R391G	possibly damaging	Het
Ppfia3	T	C	7: 44,990,542 (GRCm39)	D919G	probably damaging	Het
Pramel23	T	A	4: 143,424,939 (GRCm39)	Q168L	possibly damaging	Het
Rnase2b	T	A	14: 51,400,208 (GRCm39)	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,229,130 (GRCm39)		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina3f	A	G	12: 104,186,615 (GRCm39)	T394A	probably benign	Het
Six3	A	G	17: 85,928,720 (GRCm39)	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,825,285 (GRCm39)		probably null	Het
Slc35f6	A	G	5: 30,805,427 (GRCm39)	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,729,351 (GRCm39)	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,948,824 (GRCm39)	E485D	probably damaging	Het
Sort1	G	A	3: 108,235,385 (GRCm39)	C255Y	probably damaging	Het
Stab2	T	A	10: 86,785,771 (GRCm39)	T624S	probably benign	Het
Stk33	T	A	7: 108,939,605 (GRCm39)	I99L	probably benign	Het
Taf4b	T	A	18: 15,031,100 (GRCm39)	I828N	probably damaging	Het
Terf2	T	C	8: 107,803,110 (GRCm39)		probably benign	Het
Timd4	C	T	11: 46,706,344 (GRCm39)	R49C	probably damaging	Het
Tpte	T	C	8: 22,808,362 (GRCm39)	S166P	probably benign	Het
Trabd2b	T	C	4: 114,264,052 (GRCm39)	L13P	probably benign	Het
Trappc11	A	T	8: 47,975,476 (GRCm39)	Y247*	probably null	Het
Trnt1	C	T	6: 106,755,853 (GRCm39)	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,201 (GRCm39)	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,200,322 (GRCm39)	K337N	probably damaging	Het
Unc13a	T	A	8: 72,095,816 (GRCm39)	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,052,943 (GRCm39)	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,506,111 (GRCm39)		probably null	Het
Zfp605	A	G	5: 110,275,352 (GRCm39)	K157E	probably damaging	Het
Zhx2	T	A	15: 57,684,755 (GRCm39)	D41E	probably benign	Het

Other mutations in Drp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4993: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'- CAGTTCAACAGTGCAGTATGCTC -3'
(R):5'- TGTTGCCCCATCTCAACAAAG -3'

Sequencing Primer
(F):5'- AACAGTGCAGTATGCTCTTTCTCTG -3'
(R):5'- AAAGCTCCTGTACCTCTGAGTAC -3'

Posted On

2016-05-10