Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Dpysl2'

372352

Institutional Source

Beutler Lab

Gene Symbol

Dpysl2

Ensembl Gene

ENSMUSG00000022048

Gene Name

dihydropyrimidinase-like 2

Synonyms

DRP2, Crmp2, TOAD-64, Ulip2

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67040313-67106137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67066888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 182 (Y182N)

Ref Sequence

ENSEMBL: ENSMUSP00000022629 (fasta)

Gene Model

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

AlphaFold

O08553

Predicted Effect

probably damaging
Transcript: ENSMUST00000022629
AA Change: Y182N

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

SMART Domains

Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: Y182N

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

Meta Mutation Damage Score

0.8506

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably damaging	Het

Other mutations in Dpysl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Dpysl2	APN	14	67,071,681 (GRCm39)	missense	probably damaging	1.00
IGL01451:Dpysl2	APN	14	67,045,367 (GRCm39)	missense	possibly damaging	0.64
IGL02080:Dpysl2	APN	14	67,067,394 (GRCm39)	missense	probably benign	0.01
IGL02313:Dpysl2	APN	14	67,061,839 (GRCm39)	missense	probably benign	0.01
IGL02530:Dpysl2	APN	14	67,061,847 (GRCm39)	missense	probably damaging	1.00
IGL03082:Dpysl2	APN	14	67,045,459 (GRCm39)	missense	probably damaging	1.00
IGL03357:Dpysl2	APN	14	67,050,736 (GRCm39)	missense	probably damaging	0.97
R0491:Dpysl2	UTSW	14	67,045,411 (GRCm39)	missense	probably damaging	1.00
R0564:Dpysl2	UTSW	14	67,042,895 (GRCm39)	splice site	probably benign
R1121:Dpysl2	UTSW	14	67,100,001 (GRCm39)	missense	probably benign	0.13
R1190:Dpysl2	UTSW	14	67,061,850 (GRCm39)	missense	probably benign	0.17
R1595:Dpysl2	UTSW	14	67,052,952 (GRCm39)	missense	probably damaging	1.00
R1786:Dpysl2	UTSW	14	67,100,114 (GRCm39)	splice site	probably benign
R1830:Dpysl2	UTSW	14	67,105,840 (GRCm39)	unclassified	probably benign
R2076:Dpysl2	UTSW	14	67,102,571 (GRCm39)	missense	probably damaging	1.00
R3615:Dpysl2	UTSW	14	67,071,819 (GRCm39)	missense	probably damaging	1.00
R3616:Dpysl2	UTSW	14	67,071,819 (GRCm39)	missense	probably damaging	1.00
R3928:Dpysl2	UTSW	14	67,061,880 (GRCm39)	missense	possibly damaging	0.71
R4209:Dpysl2	UTSW	14	67,052,926 (GRCm39)	missense	probably damaging	0.98
R4211:Dpysl2	UTSW	14	67,052,926 (GRCm39)	missense	probably damaging	0.98
R4793:Dpysl2	UTSW	14	67,052,498 (GRCm39)	missense	possibly damaging	0.93
R5640:Dpysl2	UTSW	14	67,071,817 (GRCm39)	missense	probably benign	0.43
R5708:Dpysl2	UTSW	14	67,050,595 (GRCm39)	missense	probably benign	0.07
R5808:Dpysl2	UTSW	14	67,102,621 (GRCm39)	critical splice acceptor site	probably null
R7045:Dpysl2	UTSW	14	67,067,395 (GRCm39)	missense	probably benign	0.06
R7140:Dpysl2	UTSW	14	67,099,982 (GRCm39)	missense	probably benign	0.00
R7211:Dpysl2	UTSW	14	67,067,425 (GRCm39)	missense	probably damaging	0.99
R7316:Dpysl2	UTSW	14	67,100,044 (GRCm39)	missense	possibly damaging	0.94
R7361:Dpysl2	UTSW	14	67,071,664 (GRCm39)	missense	possibly damaging	0.95
R7772:Dpysl2	UTSW	14	67,066,425 (GRCm39)	splice site	probably null
R7852:Dpysl2	UTSW	14	67,100,092 (GRCm39)	missense	probably benign	0.07
R8488:Dpysl2	UTSW	14	67,066,850 (GRCm39)	missense	possibly damaging	0.84
R8987:Dpysl2	UTSW	14	67,045,402 (GRCm39)	missense	probably damaging	1.00
R9729:Dpysl2	UTSW	14	67,099,927 (GRCm39)	missense	probably benign	0.01
R9771:Dpysl2	UTSW	14	67,066,833 (GRCm39)	missense	probably damaging	1.00
Z1177:Dpysl2	UTSW	14	67,099,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGATTTTCACACTGGTGGTC -3'
(R):5'- AGAGTCTTGGTCACACCTGG -3'

Sequencing Primer
(F):5'- TGGTGGTCCAGCTTCAAAAG -3'
(R):5'- AGAGCTGGGTGTCATCTCC -3'

Posted On

2016-03-01