Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Dpysl2'

268411

Institutional Source

Beutler Lab

Gene Symbol

Dpysl2

Ensembl Gene

ENSMUSG00000022048

Gene Name

dihydropyrimidinase-like 2

Synonyms

DRP2, Crmp2, Ulip2, TOAD-64

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R3616 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

66802864-66868688 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66834370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 107 (H107L)

Ref Sequence

ENSEMBL: ENSMUSP00000022629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022629]

AlphaFold

O08553

Predicted Effect

probably damaging
Transcript: ENSMUST00000022629
AA Change: H107L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: H107L

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	64	453	4.3e-54	PFAM

Meta Mutation Damage Score

0.2247

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal dendritic patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Dpysl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Dpysl2	APN	14	66834232	missense	probably damaging	1.00
IGL01451:Dpysl2	APN	14	66807918	missense	possibly damaging	0.64
IGL02080:Dpysl2	APN	14	66829945	missense	probably benign	0.01
IGL02313:Dpysl2	APN	14	66824390	missense	probably benign	0.01
IGL02530:Dpysl2	APN	14	66824398	missense	probably damaging	1.00
IGL03082:Dpysl2	APN	14	66808010	missense	probably damaging	1.00
IGL03357:Dpysl2	APN	14	66813287	missense	probably damaging	0.97
R0491:Dpysl2	UTSW	14	66807962	missense	probably damaging	1.00
R0564:Dpysl2	UTSW	14	66805446	splice site	probably benign
R1121:Dpysl2	UTSW	14	66862552	missense	probably benign	0.13
R1190:Dpysl2	UTSW	14	66824401	missense	probably benign	0.17
R1595:Dpysl2	UTSW	14	66815503	missense	probably damaging	1.00
R1786:Dpysl2	UTSW	14	66862665	splice site	probably benign
R1830:Dpysl2	UTSW	14	66868391	unclassified	probably benign
R2076:Dpysl2	UTSW	14	66865122	missense	probably damaging	1.00
R3615:Dpysl2	UTSW	14	66834370	missense	probably damaging	1.00
R3928:Dpysl2	UTSW	14	66824431	missense	possibly damaging	0.71
R4209:Dpysl2	UTSW	14	66815477	missense	probably damaging	0.98
R4211:Dpysl2	UTSW	14	66815477	missense	probably damaging	0.98
R4793:Dpysl2	UTSW	14	66815049	missense	possibly damaging	0.93
R4859:Dpysl2	UTSW	14	66829439	missense	probably damaging	1.00
R5640:Dpysl2	UTSW	14	66834368	missense	probably benign	0.43
R5708:Dpysl2	UTSW	14	66813146	missense	probably benign	0.07
R5808:Dpysl2	UTSW	14	66865172	critical splice acceptor site	probably null
R7045:Dpysl2	UTSW	14	66829946	missense	probably benign	0.06
R7140:Dpysl2	UTSW	14	66862533	missense	probably benign	0.00
R7211:Dpysl2	UTSW	14	66829976	missense	probably damaging	0.99
R7316:Dpysl2	UTSW	14	66862595	missense	possibly damaging	0.94
R7361:Dpysl2	UTSW	14	66834215	missense	possibly damaging	0.95
R7772:Dpysl2	UTSW	14	66828976	splice site	probably null
R7852:Dpysl2	UTSW	14	66862643	missense	probably benign	0.07
R8488:Dpysl2	UTSW	14	66829401	missense	possibly damaging	0.84
R8987:Dpysl2	UTSW	14	66807953	missense	probably damaging	1.00
R9729:Dpysl2	UTSW	14	66862478	missense	probably benign	0.01
R9771:Dpysl2	UTSW	14	66829384	missense	probably damaging	1.00
Z1177:Dpysl2	UTSW	14	66862490	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAAGCGAGACCTACCGTG -3'
(R):5'- CGGATCTGAGTCGTTCATGC -3'

Sequencing Primer
(F):5'- GGTCCTTCACCAGAGCTTC -3'
(R):5'- GGCTAGTCCAGTGCCAAGTTTC -3'

Posted On

2015-02-19