Mutagenetix > Incidental Mutation

Incidental Mutation 'R4918:Dpysl5'

378392

Institutional Source

Beutler Lab

Gene Symbol

Dpysl5

Ensembl Gene

ENSMUSG00000029168

Gene Name

dihydropyrimidinase-like 5

Synonyms

CRAM, CRMP-5, Crmp5

MMRRC Submission

042520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R4918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30711564-30799375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30792268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 461 (F461V)

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: F461V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: F461V

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: F461V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: F461V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198503

Meta Mutation Damage Score

0.6485

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	G	17: 28,908,363	Q224P	probably benign	Het
Abca6	T	A	11: 110,180,551	I1492F	probably damaging	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arfgef3	T	A	10: 18,616,890	I1258F	probably damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	T	13: 100,055,205	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bnip1	C	T	17: 26,783,551		probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Casp8	T	C	1: 58,827,218	F126S	probably damaging	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cntnap2	T	C	6: 46,530,035		probably benign	Het
Col9a1	T	C	1: 24,237,258	I749T	possibly damaging	Het
Ddx50	A	T	10: 62,627,671	C414*	probably null	Het
Defb42	A	G	14: 63,048,341	I57V	probably benign	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Dhx40	G	T	11: 86,804,391	H98N	possibly damaging	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Egfem1	T	C	3: 29,151,893	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Esyt2	T	C	12: 116,324,140	V226A	probably benign	Het
Fan1	A	T	7: 64,373,538		probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fsip2	G	A	2: 82,993,770	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm10764	A	G	10: 87,290,717		noncoding transcript	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gm8122	T	C	14: 43,234,116	N65S	unknown	Het
Golga4	C	A	9: 118,558,145	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,864,392	I123M	probably benign	Het
Hsf4	A	G	8: 105,272,735	E235G	probably benign	Het
Ifi206	T	A	1: 173,482,044	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,091,275	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,396,760	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,074,978	E233V	probably benign	Het
Krt5	A	T	15: 101,710,307	Y340N	probably damaging	Het
Krt90	T	A	15: 101,562,479	H116L	possibly damaging	Het
Large2	A	G	2: 92,366,107		probably benign	Het
March4	T	G	1: 72,428,779	S365R	probably benign	Het
Mei4	A	G	9: 81,890,163	T10A	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mrps28	A	G	3: 8,882,554		probably benign	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,483,613	N825S	probably benign	Het
Nfat5	T	A	8: 107,324,652	D47E	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nsf	G	A	11: 103,910,359		probably benign	Het
Olfr1010	T	C	2: 85,754,121		probably benign	Het
Olfr1350	C	T	7: 6,570,644	L218F	possibly damaging	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr353	A	G	2: 36,890,332	I172T	probably damaging	Het
Olfr362	A	T	2: 37,105,158	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Olfr577	A	T	7: 102,973,407	I195N	possibly damaging	Het
Olfr988	C	T	2: 85,353,288	V213I	probably benign	Het
Pcdh20	A	C	14: 88,467,668	L732R	probably damaging	Het
Pgbd5	C	A	8: 124,370,566	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Prpf18	T	C	2: 4,637,170	D186G	probably benign	Het
Rab3gap1	T	A	1: 127,889,177	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,955,411	Y439H	probably damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,662,405	S781P	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	A	G	13: 11,594,986	V753A	probably damaging	Het
Schip1	A	T	3: 68,408,485		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,616,236	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Spag6	A	T	2: 18,745,549	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Sulf1	A	G	1: 12,818,496	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,470,316	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,559	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,293,027	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,753,783	F95S	probably damaging	Het
Ttn	T	C	2: 76,759,254	T21219A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc80	T	C	1: 66,646,550	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Vmn2r69	T	A	7: 85,406,759	M724L	probably benign	Het
Zeb2	A	G	2: 44,996,882	I706T	probably damaging	Het
Zfp512	T	C	5: 31,476,865	S407P	probably damaging	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	Het

Other mutations in Dpysl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Dpysl5	APN	5	30745278	missense	probably damaging	1.00
IGL02277:Dpysl5	APN	5	30788781	missense	probably damaging	1.00
R0517:Dpysl5	UTSW	5	30778066	missense	probably damaging	0.99
R0788:Dpysl5	UTSW	5	30788841	critical splice donor site	probably null
R1716:Dpysl5	UTSW	5	30777994	missense	probably benign	0.00
R2016:Dpysl5	UTSW	5	30791597	missense	probably damaging	1.00
R2208:Dpysl5	UTSW	5	30791597	missense	probably damaging	1.00
R2211:Dpysl5	UTSW	5	30791597	missense	probably damaging	1.00
R2965:Dpysl5	UTSW	5	30791597	missense	probably damaging	1.00
R4440:Dpysl5	UTSW	5	30792268	missense	probably damaging	0.99
R4863:Dpysl5	UTSW	5	30784343	missense	probably benign	0.08
R5377:Dpysl5	UTSW	5	30791513	missense	probably damaging	1.00
R6379:Dpysl5	UTSW	5	30777973	critical splice acceptor site	probably null
R6621:Dpysl5	UTSW	5	30784469	critical splice donor site	probably null
R7199:Dpysl5	UTSW	5	30783195	missense	probably benign	0.21
R7232:Dpysl5	UTSW	5	30792298	missense	probably benign	0.03
R7388:Dpysl5	UTSW	5	30745461	missense	probably benign
R7446:Dpysl5	UTSW	5	30778887	missense	probably benign	0.00
R7868:Dpysl5	UTSW	5	30745416	missense	probably damaging	1.00
R8041:Dpysl5	UTSW	5	30796314	missense	probably benign	0.28
R8428:Dpysl5	UTSW	5	30745467	missense	probably damaging	0.99
R8835:Dpysl5	UTSW	5	30778938	critical splice donor site	probably null
R8888:Dpysl5	UTSW	5	30745343	missense	probably benign	0.01
R8943:Dpysl5	UTSW	5	30778031	missense	probably benign	0.33
R9033:Dpysl5	UTSW	5	30791597	missense	probably damaging	1.00
R9139:Dpysl5	UTSW	5	30778053	missense	probably benign	0.45
R9305:Dpysl5	UTSW	5	30791615	missense	probably damaging	1.00
R9522:Dpysl5	UTSW	5	30778055	nonsense	probably null
R9700:Dpysl5	UTSW	5	30747073	nonsense	probably null
Z1176:Dpysl5	UTSW	5	30778120	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAAGCTCTTGTTCCACCC -3'
(R):5'- CTTCTGAGGTATCCTGGTCAATTG -3'

Sequencing Primer
(F):5'- AGAAGCTCTTGTTCCACCCTCATTC -3'
(R):5'- AATATGGGCCTTGACCTC -3'

Posted On

2016-04-15