Mutagenetix > Incidental Mutation

Incidental Mutation 'R4518:Crppa'

334085

Institutional Source

Beutler Lab

Gene Symbol

Crppa

Ensembl Gene

ENSMUSG00000043153

Gene Name

CDP-L-ribitol pyrophosphorylase A

Synonyms

Ispd, 4930579E17Rik

MMRRC Submission

041762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36431449-36739502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36523179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 203 (V203I)

Ref Sequence

ENSEMBL: ENSMUSP00000152872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000220519] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000221895] [ENSMUST00000223068] [ENSMUST00000223205]

AlphaFold

Q5RJG7

Predicted Effect

probably benign
Transcript: ENSMUST00000062041
AA Change: V253I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153
AA Change: V253I

Domain	Start	End	E-Value	Type
Pfam:IspD	45	277	2.5e-40	PFAM
Pfam:NTP_transf_3	47	274	3.1e-11	PFAM
low complexity region	359	370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220519
AA Change: V253I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000221177
AA Change: V154I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000221452
AA Change: V253I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000221895
AA Change: V253I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000223068
AA Change: V154I

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223205
AA Change: V203I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.2591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	T	A	5: 30,311,006 (GRCm39)		probably null	Het
Abr	A	G	11: 76,363,344 (GRCm39)	S167P	possibly damaging	Het
Adamtsl2	T	C	2: 26,985,559 (GRCm39)	L481P	probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Brip1	G	A	11: 85,968,704 (GRCm39)	A827V	possibly damaging	Het
Carns1	T	G	19: 4,220,069 (GRCm39)	T389P	probably benign	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cckar	T	C	5: 53,857,264 (GRCm39)	N311S	probably damaging	Het
Cenpc1	A	G	5: 86,195,446 (GRCm39)	S108P	possibly damaging	Het
Chpf	G	T	1: 75,451,689 (GRCm39)	S588R	probably damaging	Het
Clca3a2	T	A	3: 144,514,466 (GRCm39)	T414S	probably damaging	Het
Cntrl	A	G	2: 35,038,986 (GRCm39)	E1092G	probably damaging	Het
Crb2	C	A	2: 37,680,401 (GRCm39)	T443K	probably damaging	Het
Cwf19l1	A	G	19: 44,121,473 (GRCm39)	V25A	probably damaging	Het
Cyb561d1	T	C	3: 108,106,887 (GRCm39)	I111V	possibly damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnajb4	T	C	3: 151,890,813 (GRCm39)	I329V	probably benign	Het
Dnmt1	G	T	9: 20,823,274 (GRCm39)	D1055E	probably benign	Het
Fam168a	C	T	7: 100,483,247 (GRCm39)	A176V	probably damaging	Het
Farp2	A	G	1: 93,548,363 (GRCm39)	E1016G	probably benign	Het
Fibcd1	A	T	2: 31,707,207 (GRCm39)	V350E	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Golgb1	G	A	16: 36,749,625 (GRCm39)	E3076K	probably damaging	Het
Grm7	A	G	6: 110,891,507 (GRCm39)		probably null	Het
Hcn2	T	C	10: 79,560,536 (GRCm39)	V289A	probably benign	Het
Hipk1	G	T	3: 103,657,688 (GRCm39)	H799N	probably damaging	Het
Klf14	A	G	6: 30,934,867 (GRCm39)	S256P	possibly damaging	Het
Muc6	T	A	7: 141,230,489 (GRCm39)	T1214S	probably benign	Het
Nlrp2	T	A	7: 5,328,055 (GRCm39)	D666V	possibly damaging	Het
Ntng1	A	G	3: 109,842,329 (GRCm39)	I148T	probably damaging	Het
Or4k35	T	C	2: 111,100,263 (GRCm39)	M150V	probably benign	Het
Or7d9	A	G	9: 20,197,546 (GRCm39)	I184V	probably benign	Het
Or7g27	T	A	9: 19,250,556 (GRCm39)	S267T	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pacs2	A	G	12: 113,024,289 (GRCm39)	D360G	probably benign	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Pdss2	T	A	10: 43,248,146 (GRCm39)	S217T	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prlr	C	A	15: 10,329,085 (GRCm39)	T520K	possibly damaging	Het
Prokr2	T	A	2: 132,216,012 (GRCm39)		probably null	Het
Rab3gap2	G	A	1: 184,999,265 (GRCm39)	V991I	probably benign	Het
Reln	T	C	5: 22,106,741 (GRCm39)	I3210V	probably benign	Het
Rims2	T	C	15: 39,300,922 (GRCm39)	Y218H	probably damaging	Het
Slc41a1	T	C	1: 131,766,863 (GRCm39)	V127A	probably damaging	Het
St8sia6	T	A	2: 13,797,562 (GRCm39)		probably null	Het
Tlr6	A	G	5: 65,112,247 (GRCm39)	F220S	possibly damaging	Het
Trmt1l	C	T	1: 151,324,094 (GRCm39)	Q314*	probably null	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vnn3	G	A	10: 23,743,124 (GRCm39)	V445M	possibly damaging	Het
Ypel1	A	T	16: 16,913,905 (GRCm39)	F173I	possibly damaging	Het
Zfhx4	T	C	3: 5,477,578 (GRCm39)	C3398R	probably damaging	Het
Zfyve16	T	C	13: 92,657,820 (GRCm39)	E697G	possibly damaging	Het

Other mutations in Crppa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Crppa	APN	12	36,523,176 (GRCm39)	missense	probably damaging	1.00
IGL01845:Crppa	APN	12	36,597,918 (GRCm39)	missense	probably benign	0.10
R0329:Crppa	UTSW	12	36,431,837 (GRCm39)	missense	possibly damaging	0.71
R0513:Crppa	UTSW	12	36,440,467 (GRCm39)	missense	probably damaging	1.00
R0798:Crppa	UTSW	12	36,571,998 (GRCm39)	missense	probably benign	0.26
R1676:Crppa	UTSW	12	36,526,720 (GRCm39)	missense	probably benign	0.02
R1704:Crppa	UTSW	12	36,571,493 (GRCm39)	missense	probably benign	0.00
R1937:Crppa	UTSW	12	36,440,367 (GRCm39)	missense	probably benign	0.13
R1987:Crppa	UTSW	12	36,571,995 (GRCm39)	missense	probably damaging	1.00
R5726:Crppa	UTSW	12	36,597,829 (GRCm39)	missense	probably damaging	0.99
R6508:Crppa	UTSW	12	36,476,298 (GRCm39)	missense	possibly damaging	0.92
R7315:Crppa	UTSW	12	36,440,373 (GRCm39)	missense	probably benign	0.00
R7395:Crppa	UTSW	12	36,551,994 (GRCm39)	missense	possibly damaging	0.86
R7819:Crppa	UTSW	12	36,431,902 (GRCm39)	missense	probably benign	0.00
R8392:Crppa	UTSW	12	36,440,497 (GRCm39)	missense	probably damaging	1.00
R8810:Crppa	UTSW	12	36,440,481 (GRCm39)	missense	probably damaging	1.00
R9280:Crppa	UTSW	12	36,571,975 (GRCm39)	missense	probably benign	0.02
R9401:Crppa	UTSW	12	36,552,073 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTTGCTCATTCTCGGACTG -3'
(R):5'- CTGTACCCTTGCACACAGTG -3'

Sequencing Primer
(F):5'- GCTCATTCTCGGACTGATTCC -3'
(R):5'- GCACACAGTGGGTATTTTTGAAC -3'

Posted On

2015-08-18