Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Dpysl5'

718944

Institutional Source

Beutler Lab

Gene Symbol

Dpysl5

Ensembl Gene

ENSMUSG00000029168

Gene Name

dihydropyrimidinase-like 5

Synonyms

CRAM, CRMP-5, Crmp5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30711564-30799375 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 30778055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 167 (Y167*)

Ref Sequence

ENSEMBL: ENSMUSP00000085400 (fasta)

Gene Model

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

AlphaFold

Q9EQF6

Predicted Effect

probably null
Transcript: ENSMUST00000088081
AA Change: Y167*

SMART Domains

Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: Y167*

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 null
Transcript: ENSMUST00000114729
AA Change: Y167*

SMART Domains

Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: Y167*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,466,123	S5C	probably damaging	Het
5830411N06Rik	T	A	7: 140,274,074	I330N	possibly damaging	Het
Abca14	A	T	7: 120,248,145	Y744F	probably null	Het
Adam17	C	A	12: 21,345,692	V277F	probably damaging	Het
Adcy8	C	T	15: 64,920,711	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,199,484	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,672,082	I212N	probably damaging	Het
Allc	A	T	12: 28,570,654	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,116,154	T7A	probably benign	Het
Bbs4	A	G	9: 59,353,408		probably null	Het
Btbd1	G	T	7: 81,829,333	P20H	unknown	Het
Cass4	A	G	2: 172,427,428	I477V	possibly damaging	Het
Cep83	A	G	10: 94,750,322	E362G	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cntnap5b	A	G	1: 100,484,622	D896G	probably benign	Het
Crocc2	T	C	1: 93,189,707	V305A	probably benign	Het
Cse1l	G	A	2: 166,934,753	V495I	probably benign	Het
Ctsj	A	T	13: 61,004,443	Y36*	probably null	Het
Ctss	T	G	3: 95,546,798	D220E	probably benign	Het
Ctu1	T	C	7: 43,675,476	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,764,073	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,478,762		probably benign	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
E4f1	C	T	17: 24,447,122	G234D	probably damaging	Het
Eif3g	G	T	9: 20,898,155	T27N	probably benign	Het
Eif3g	T	A	9: 20,898,156	T27S	probably benign	Het
Fcrls	A	G	3: 87,256,794	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,159,148		probably null	Het
Gm4450	T	C	3: 98,446,467	S239G	probably benign	Het
Gm960	T	C	19: 4,627,246	H612R	probably benign	Het
Igf2r	G	T	17: 12,698,328	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,394,237	V232I	probably benign	Het
Irx5	C	T	8: 92,360,631	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,849,907	V219D	probably damaging	Het
Klkb1	T	C	8: 45,277,015	I276M	probably benign	Het
Large2	A	G	2: 92,369,921	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423	D61G	probably benign	Het
Map7	A	G	10: 20,229,896	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,880,441	I462F	probably benign	Het
Olfr1158	G	A	2: 87,990,831	C240Y	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1450	T	A	19: 12,954,013	C141*	probably null	Het
Phf20l1	T	C	15: 66,632,820	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,313,148	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,182,527	W242R	probably damaging	Het
Rgs3	A	G	4: 62,605,492	I53M	probably benign	Het
Rif1	T	C	2: 52,081,299	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,806,594		probably null	Het
Ryr3	T	A	2: 112,730,414	I3001F	probably benign	Het
Safb2	A	G	17: 56,566,900	I675T	probably damaging	Het
Sec16b	C	T	1: 157,564,765	S901L	probably damaging	Het
Setd5	T	G	6: 113,115,034	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,909,512	M536K	probably damaging	Het
Slfn3	T	C	11: 83,212,999	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,716,966	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,198,744	D251G	probably benign	Het
Tbccd1	T	C	16: 22,822,499	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,805,730	P368T	probably benign	Het
Top1mt	T	C	15: 75,667,460	D362G	probably damaging	Het
Ugt3a2	C	A	15: 9,370,123	P451H	probably damaging	Het
Unc80	G	A	1: 66,638,062	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,928,777	V131A	probably damaging	Het
Wdr89	A	G	12: 75,633,150	F110S	probably damaging	Het
Znrf3	T	C	11: 5,282,379	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,769,370	D754G	possibly damaging	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
R4918:Dpysl5	UTSW	5	30792268	missense	probably damaging	1.00
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
R9700:Dpysl5	UTSW	5	30747073	nonsense	probably null
Z1176:Dpysl5	UTSW	5	30778120	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACAGTTGGTCACAGCCTGC -3'
(R):5'- CAAGATTTGGCACCCCAGATG -3'

Sequencing Primer
(F):5'- GTCACAGCCTGCCCCATC -3'
(R):5'- GATTTGGCACCCCAGATGTTCAC -3'

Posted On

2022-07-18