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, TOAD-64, Ulip2

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R3616 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

67040313-67106137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67071819 bp (GRCm39)

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
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Efs	T	C	14: 55,157,552 (GRCm39)	Y160C	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,346,740 (GRCm39)		probably benign	Het
Krt25	A	C	11: 99,208,124 (GRCm39)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pard6b	T	C	2: 167,929,259 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,560,886 (GRCm39)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,617,879 (GRCm39)	K347N	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,760,373 (GRCm39)	T420A	probably benign	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
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
R4859:Dpysl2	UTSW	14	67,066,888 (GRCm39)	missense	probably damaging	1.00
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'- ACAAAGCGAGACCTACCGTG -3'
(R):5'- CGGATCTGAGTCGTTCATGC -3'

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

Posted On

2015-02-19