Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Dpysl2'

46089

Institutional Source

Beutler Lab

Gene Symbol

Dpysl2

Ensembl Gene

ENSMUSG00000022048

Gene Name

dihydropyrimidinase-like 2

Synonyms

DRP2, Crmp2, Ulip2, TOAD-64

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

R0564 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

66802864-66868688 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 66805446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022629 (fasta)

Gene Model

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

AlphaFold

O08553

Predicted Effect

probably benign
Transcript: ENSMUST00000022629

SMART Domains

Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	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
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
R3616: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'- AGTCTCAGAATGTCCTCAGGTGTCC -3'
(R):5'- CGTGGGTCAAAAGAGCCATACTCTC -3'

Sequencing Primer
(F):5'- GTCCTCAGGTGTCCCATCC -3'
(R):5'- AAGAGCCATACTCTCTAGTACCTTG -3'

Posted On

2013-06-11