Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Dpysl2'

287879

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpysl2

Ensembl Gene

ENSMUSG00000022048

Gene Name

dihydropyrimidinase-like 2

Synonyms

DRP2, Crmp2, TOAD-64, Ulip2

Accession Numbers

Essential gene?

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

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

67040313-67106137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67061839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 256 (M256L)

Ref Sequence

ENSEMBL: ENSMUSP00000022629 (fasta)

Gene Model

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

AlphaFold

O08553

Predicted Effect

probably benign
Transcript: ENSMUST00000022629
AA Change: M256L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: M256L

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly 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
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
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

Posted On

2015-04-16