Mutagenetix > Incidental Mutation

Incidental Mutation 'R7868:Dpysl5'

607905

Institutional Source

Beutler Lab

Gene Symbol

Dpysl5

Ensembl Gene

ENSMUSG00000029168

Gene Name

dihydropyrimidinase-like 5

Synonyms

CRMP-5, Crmp5, CRAM

MMRRC Submission

045920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30868908-30956713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30902760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 64 (D64V)

Ref Sequence

ENSEMBL: ENSMUSP00000085400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000101442] [ENSMUST00000114729]

AlphaFold

Q9EQF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000088081
AA Change: D64V

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

SMART Domains

Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: D64V

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: ENSMUST00000101442
AA Change: D64V

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

SMART Domains

Protein: ENSMUSP00000098985
Gene: ENSMUSG00000029168
AA Change: D64V

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	28	91	8.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114729
AA Change: D64V

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

SMART Domains

Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: D64V

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: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,257 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,386,288 (GRCm39)	E2274G	probably benign	Het
Adam7	A	G	14: 68,770,090 (GRCm39)	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 4,018,492 (GRCm39)	R57*	probably null	Het
Arhgap22	T	C	14: 33,086,473 (GRCm39)		probably benign	Het
B4galt5	G	T	2: 167,143,340 (GRCm39)	Y361*	probably null	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bsn	G	T	9: 107,992,098 (GRCm39)	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 76,938,756 (GRCm39)	D283G	probably damaging	Het
Ccdc33	T	A	9: 57,976,374 (GRCm39)	I547F	probably benign	Het
Chdh	A	G	14: 29,753,288 (GRCm39)	N66D	probably benign	Het
Ckap2l	T	A	2: 129,127,209 (GRCm39)	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,951,745 (GRCm39)	I13F	possibly damaging	Het
Creb3l2	G	A	6: 37,312,804 (GRCm39)	P410L	probably damaging	Het
Dna2	T	C	10: 62,805,643 (GRCm39)	V960A	probably benign	Het
Dop1a	G	A	9: 86,384,037 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,091,081 (GRCm39)	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,746,154 (GRCm39)	V242A	probably benign	Het
Ehbp1	G	A	11: 22,096,542 (GRCm39)	R341*	probably null	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fbxo32	A	T	15: 58,077,986 (GRCm39)	W8R	probably damaging	Het
Fpgs	T	C	2: 32,573,472 (GRCm39)	N455D	probably damaging	Het
Fsip1	G	A	2: 117,966,967 (GRCm39)	Q453*	probably null	Het
Gm8257	T	A	14: 44,894,754 (GRCm39)	E12V	probably damaging	Het
Kdm3a	A	T	6: 71,572,473 (GRCm39)	D1029E	probably benign	Het
Lipo4	T	G	19: 33,488,968 (GRCm39)	Q205P	possibly damaging	Het
Lpar6	A	T	14: 73,476,435 (GRCm39)	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,339,246 (GRCm39)	G866S		Het
Man2c1	T	C	9: 57,045,270 (GRCm39)	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Map4k1	A	T	7: 28,699,387 (GRCm39)		probably null	Het
Matn1	A	G	4: 130,682,311 (GRCm39)	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,850,648 (GRCm39)	V76E	possibly damaging	Het
Mmut	C	T	17: 41,257,934 (GRCm39)	R367C	probably damaging	Het
Mtpap	A	G	18: 4,380,673 (GRCm39)	E117G	probably damaging	Het
Muc17	T	A	5: 137,175,625 (GRCm39)	N15I		Het
Ndufa10	A	G	1: 92,388,169 (GRCm39)	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,755,047 (GRCm39)	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,097,446 (GRCm39)	R785C	possibly damaging	Het
Nsun4	C	A	4: 115,891,329 (GRCm39)	C350F	probably benign	Het
Or10x1	A	G	1: 174,196,551 (GRCm39)	T23A	probably benign	Het
Or51f23b	A	G	7: 102,402,812 (GRCm39)	L108P	possibly damaging	Het
Or8g2	T	A	9: 39,821,282 (GRCm39)	F61Y	probably benign	Het
Or9s14	G	A	1: 92,536,237 (GRCm39)	G226D	possibly damaging	Het
Pdcd7	T	A	9: 65,254,261 (GRCm39)	C280S	probably damaging	Het
Peak1	G	T	9: 56,167,754 (GRCm39)	T58K	probably damaging	Het
Phactr2	T	C	10: 13,108,353 (GRCm39)	E573G	probably damaging	Het
Pramel27	A	G	4: 143,578,154 (GRCm39)	H138R	possibly damaging	Het
Ptprz1	G	A	6: 23,000,963 (GRCm39)	A1018T	not run	Het
Ralgapa1	G	T	12: 55,659,423 (GRCm39)	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,031,481 (GRCm39)	N488K	probably benign	Het
Slc1a2	A	G	2: 102,591,530 (GRCm39)	D420G	probably benign	Het
Smyd5	T	A	6: 85,421,297 (GRCm39)	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,555,587 (GRCm39)	R2764H	possibly damaging	Het
Tex35	A	T	1: 156,926,908 (GRCm39)	Y195*	probably null	Het
Tln2	T	C	9: 67,255,508 (GRCm39)	K690E	probably damaging	Het
Trpc4	A	G	3: 54,209,707 (GRCm39)	T691A	probably benign	Het
Tsr1	T	A	11: 74,791,158 (GRCm39)	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
Ubr4	A	T	4: 139,187,344 (GRCm39)	Y669F	unknown	Het
Uox	A	C	3: 146,316,029 (GRCm39)	D12A	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	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
R2211: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
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'- TGCGGATTCTCATCAAGGGAG -3'
(R):5'- GATGTTTAGCCGTAGCCCTAGTC -3'

Sequencing Primer
(F):5'- TTCTCATCAAGGGAGGCAAG -3'
(R):5'- AGCCGTAGCCCTAGTCTAGTTG -3'

Posted On

2019-12-20