Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Dpysl5'

239362

Institutional Source

Beutler Lab

Gene Symbol

Dpysl5

Ensembl Gene

ENSMUSG00000029168

Gene Name

dihydropyrimidinase-like 5

Synonyms

CRMP-5, Crmp5, CRAM

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30868908-30956713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30948941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 399 (D399N)

Ref Sequence

ENSEMBL: ENSMUSP00000110377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000114729]

AlphaFold

Q9EQF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000088081
AA Change: D399N

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

SMART Domains

Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: D399N

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	28	97	3.4e-11	PFAM
Pfam:Amidohydro_4	52	403	4.3e-17	PFAM
Pfam:Amidohydro_1	57	406	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114729
AA Change: D399N

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

SMART Domains

Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: D399N

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	57	446	1.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198503

Meta Mutation Damage Score

0.9385

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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 CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit limb grasping, abnormal Purkinje morphology, absent long term depression, and no response to BDNF. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,118,171 (GRCm39)	S34P	probably damaging	Het
Adam23	T	A	1: 63,612,288 (GRCm39)		probably benign	Het
Adcy10	A	T	1: 165,345,781 (GRCm39)	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,467,993 (GRCm39)	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,886,451 (GRCm39)	M242K	possibly damaging	Het
Arhgef18	T	C	8: 3,437,680 (GRCm39)	S268P	possibly damaging	Het
Astn1	A	G	1: 158,484,876 (GRCm39)	R4G	probably benign	Het
AU041133	G	A	10: 81,986,755 (GRCm39)	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,288 (GRCm39)	V53A	probably benign	Het
Cdh23	T	C	10: 60,301,783 (GRCm39)	D428G	possibly damaging	Het
Cebpa	T	C	7: 34,819,891 (GRCm39)	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,279 (GRCm39)	M152V	probably null	Het
Cpa4	A	G	6: 30,583,649 (GRCm39)	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,803,634 (GRCm39)	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,518,932 (GRCm39)	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,397,286 (GRCm39)	A9E	probably damaging	Het
Edem3	A	G	1: 151,680,453 (GRCm39)	D526G	possibly damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Etaa1	G	A	11: 17,902,686 (GRCm39)	Q84*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam149a	G	A	8: 45,794,046 (GRCm39)	T674I	probably damaging	Het
Fam98a	A	G	17: 75,845,940 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,945,676 (GRCm39)	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,758,361 (GRCm39)	T529A	probably damaging	Het
Gzf1	C	T	2: 148,526,870 (GRCm39)	A447V	probably damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hic1	T	A	11: 75,060,210 (GRCm39)	R46W	possibly damaging	Het
Id4	T	A	13: 48,415,278 (GRCm39)	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029 (GRCm38)	C271R	probably benign	Het
Ints4	T	C	7: 97,158,957 (GRCm39)	I443T	possibly damaging	Het
Lmln	A	G	16: 32,930,148 (GRCm39)	E535G	probably benign	Het
Lrrtm4	A	G	6: 79,999,623 (GRCm39)	H345R	probably benign	Het
Ltbp3	T	C	19: 5,803,990 (GRCm39)	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Ms4a18	C	A	19: 10,974,669 (GRCm39)	V341L	probably benign	Het
Nbr1	T	C	11: 101,458,090 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,890 (GRCm39)	M914T	probably benign	Het
Notch3	T	A	17: 32,366,952 (GRCm39)	H861L	probably benign	Het
Nup58	A	G	14: 60,470,089 (GRCm39)	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,250,843 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,892 (GRCm39)	D414G	probably damaging	Het
Or6c5c	A	T	10: 129,298,809 (GRCm39)	K88M	probably damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8k32	T	C	2: 86,368,857 (GRCm39)	Y132C	probably damaging	Het
Or9q2	T	A	19: 13,772,733 (GRCm39)	M81L	probably benign	Het
Pals1	A	T	12: 78,844,022 (GRCm39)	K75N	possibly damaging	Het
Pcbp4	C	A	9: 106,337,933 (GRCm39)	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,356,214 (GRCm39)	D241E	probably damaging	Het
Plcb2	T	C	2: 118,554,015 (GRCm39)	D102G	probably benign	Het
Plekha5	G	A	6: 140,471,587 (GRCm39)	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,631,601 (GRCm39)	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,343,650 (GRCm39)	S585L	probably benign	Het
Rarg	T	C	15: 102,147,959 (GRCm39)	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Rp1	A	C	1: 4,418,362 (GRCm39)	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsph3b	T	C	17: 7,209,139 (GRCm39)	S189G	probably benign	Het
Sec31b	A	T	19: 44,511,589 (GRCm39)	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,431,741 (GRCm39)	I641F	probably benign	Het
Slc35f5	A	T	1: 125,507,001 (GRCm39)	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,597,325 (GRCm39)	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,753 (GRCm39)	S432P	probably benign	Het
Spsb3	T	C	17: 25,109,911 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,067,034 (GRCm39)	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,689,645 (GRCm39)	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,465,193 (GRCm39)	C307*	probably null	Het
Trim43b	T	A	9: 88,967,302 (GRCm39)	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,388,403 (GRCm39)	I11T	probably benign	Het
Ylpm1	A	T	12: 85,091,152 (GRCm39)	R1073*	probably null	Het
Zfp524	T	C	7: 5,020,918 (GRCm39)	S149P	probably damaging	Het
Zfp777	T	C	6: 48,020,819 (GRCm39)	I312V	possibly damaging	Het

Other mutations in Dpysl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Dpysl5	APN	5	30,902,622 (GRCm39)	missense	probably damaging	1.00
IGL02277:Dpysl5	APN	5	30,946,125 (GRCm39)	missense	probably damaging	1.00
R0517:Dpysl5	UTSW	5	30,935,410 (GRCm39)	missense	probably damaging	0.99
R0788:Dpysl5	UTSW	5	30,946,185 (GRCm39)	critical splice donor site	probably null
R1716:Dpysl5	UTSW	5	30,935,338 (GRCm39)	missense	probably benign	0.00
R2016:Dpysl5	UTSW	5	30,948,941 (GRCm39)	missense	probably damaging	1.00
R2208:Dpysl5	UTSW	5	30,948,941 (GRCm39)	missense	probably damaging	1.00
R2965:Dpysl5	UTSW	5	30,948,941 (GRCm39)	missense	probably damaging	1.00
R4440:Dpysl5	UTSW	5	30,949,612 (GRCm39)	missense	probably damaging	0.99
R4863:Dpysl5	UTSW	5	30,941,687 (GRCm39)	missense	probably benign	0.08
R4918:Dpysl5	UTSW	5	30,949,612 (GRCm39)	missense	probably damaging	1.00
R5377:Dpysl5	UTSW	5	30,948,857 (GRCm39)	missense	probably damaging	1.00
R6379:Dpysl5	UTSW	5	30,935,317 (GRCm39)	critical splice acceptor site	probably null
R6621:Dpysl5	UTSW	5	30,941,813 (GRCm39)	critical splice donor site	probably null
R7199:Dpysl5	UTSW	5	30,940,539 (GRCm39)	missense	probably benign	0.21
R7232:Dpysl5	UTSW	5	30,949,642 (GRCm39)	missense	probably benign	0.03
R7388:Dpysl5	UTSW	5	30,902,805 (GRCm39)	missense	probably benign
R7446:Dpysl5	UTSW	5	30,936,231 (GRCm39)	missense	probably benign	0.00
R7868:Dpysl5	UTSW	5	30,902,760 (GRCm39)	missense	probably damaging	1.00
R8041:Dpysl5	UTSW	5	30,953,658 (GRCm39)	missense	probably benign	0.28
R8428:Dpysl5	UTSW	5	30,902,811 (GRCm39)	missense	probably damaging	0.99
R8835:Dpysl5	UTSW	5	30,936,282 (GRCm39)	critical splice donor site	probably null
R8888:Dpysl5	UTSW	5	30,902,687 (GRCm39)	missense	probably benign	0.01
R8943:Dpysl5	UTSW	5	30,935,375 (GRCm39)	missense	probably benign	0.33
R9033:Dpysl5	UTSW	5	30,948,941 (GRCm39)	missense	probably damaging	1.00
R9139:Dpysl5	UTSW	5	30,935,397 (GRCm39)	missense	probably benign	0.45
R9305:Dpysl5	UTSW	5	30,948,959 (GRCm39)	missense	probably damaging	1.00
R9522:Dpysl5	UTSW	5	30,935,399 (GRCm39)	nonsense	probably null
R9700:Dpysl5	UTSW	5	30,904,417 (GRCm39)	nonsense	probably null
Z1176:Dpysl5	UTSW	5	30,935,464 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATAAATGACCACAGCTGGGG -3'
(R):5'- AGGAATGGTACCCAGAACTGTC -3'

Sequencing Primer
(F):5'- CTGGGGTAGCAAGTGCCTG -3'
(R):5'- GGAACATGGTCATCTGCATACCG -3'

Posted On

2014-10-15