Mutagenetix > Incidental Mutation

Incidental Mutation 'R1119:Drp2'

97808

Institutional Source

Beutler Lab

Gene Symbol

Drp2

Ensembl Gene

ENSMUSG00000000223

Gene Name

dystrophin related protein 2

Synonyms

MMRRC Submission

039192-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1119 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

133305300-133357322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133342071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 545 (L545P)

Ref Sequence

ENSEMBL: ENSMUSP00000115246 (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: L569P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108850
Gene: ENSMUSG00000000223
AA Change: L569P

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: L545P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108852
Gene: ENSMUSG00000000223
AA Change: L545P

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: L545P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108854
Gene: ENSMUSG00000000223
AA Change: L545P

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: L545P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115246
Gene: ENSMUSG00000000223
AA Change: L545P

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

0.8767

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,189,525 (GRCm39)	E583A	probably damaging	Het
Aoah	T	A	13: 21,099,108 (GRCm39)		probably benign	Het
Atf7ip2	A	G	16: 10,058,476 (GRCm39)	K305R	possibly damaging	Het
Bltp1	T	G	3: 37,041,194 (GRCm39)	V2524G	probably damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Cfap57	G	A	4: 118,463,873 (GRCm39)	Q327*	probably null	Het
Ckap2l	A	T	2: 129,114,492 (GRCm39)		probably benign	Het
Cul2	A	G	18: 3,419,335 (GRCm39)		probably benign	Het
Ddx60	G	A	8: 62,395,578 (GRCm39)	V172M	probably damaging	Het
Ezh1	A	G	11: 101,101,361 (GRCm39)		probably benign	Het
Gipc2	A	G	3: 151,799,833 (GRCm39)	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hikeshi	A	G	7: 89,584,938 (GRCm39)	S89P	probably benign	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Larp1b	C	A	3: 40,987,963 (GRCm39)	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,296,716 (GRCm39)		probably null	Het
Lpin1	C	A	12: 16,613,722 (GRCm39)	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,242,826 (GRCm39)	I31L	probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nxpe5	G	A	5: 138,237,658 (GRCm39)	D61N	probably benign	Het
Ogdh	T	A	11: 6,290,544 (GRCm39)	H376Q	probably damaging	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,581,640 (GRCm39)	V249M	probably damaging	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pik3r6	C	T	11: 68,436,698 (GRCm39)	T654I	probably benign	Het
Rptn	A	G	3: 93,303,552 (GRCm39)	Y295C	possibly damaging	Het
Sec16b	A	G	1: 157,392,404 (GRCm39)	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,285,779 (GRCm39)	T275K	unknown	Het
Sgcb	T	A	5: 73,801,757 (GRCm39)	K36I	probably damaging	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stab2	T	C	10: 86,695,619 (GRCm39)	D599G	possibly damaging	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,718,933 (GRCm39)		probably benign	Het
Thnsl1	A	G	2: 21,217,857 (GRCm39)	N16S	probably damaging	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r60	A	T	7: 41,844,365 (GRCm39)	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,107,517 (GRCm39)	R536L	probably damaging	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	Het

Other mutations in Drp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- GTAGCATCCACATCTGGCACTACC -3'
(R):5'- AGTACATTGCACCCAAAGCTGAGAG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- CCCAAAGCTGAGAGGCTGG -3'

Posted On

2014-01-05