Incidental Mutation 'IGL01845:Crppa'
ID 178209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crppa
Ensembl Gene ENSMUSG00000043153
Gene Name CDP-L-ribitol pyrophosphorylase A
Synonyms Ispd, 4930579E17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01845
Quality Score
Status
Chromosome 12
Chromosomal Location 36431449-36739502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36597918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 350 (R350G)
Ref Sequence ENSEMBL: ENSMUSP00000152872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000223205]
AlphaFold Q5RJG7
Predicted Effect probably benign
Transcript: ENSMUST00000062041
AA Change: R400G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153
AA Change: R400G

DomainStartEndE-ValueType
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: ENSMUST00000221177
AA Change: R301G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000221452
AA Change: R400G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000223205
AA Change: R350G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 15,164,380 (GRCm39) L169P probably damaging Het
4933405L10Rik C A 8: 106,435,567 (GRCm39) A75E probably benign Het
Abca1 A G 4: 53,090,297 (GRCm39) L384P probably damaging Het
Acox2 C A 14: 8,251,617 (GRCm38) M293I probably damaging Het
Acp6 A G 3: 97,081,123 (GRCm39) S288G probably benign Het
Arhgef12 T A 9: 42,934,137 (GRCm39) H127L possibly damaging Het
Arid2 T G 15: 96,254,678 (GRCm39) F175V probably damaging Het
Ccdc15 G A 9: 37,226,532 (GRCm39) Q468* probably null Het
Ccdc93 T C 1: 121,390,859 (GRCm39) I277T probably damaging Het
Cdh8 T C 8: 99,825,586 (GRCm39) probably benign Het
Cdipt T C 7: 126,578,725 (GRCm39) S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 (GRCm39) N268S possibly damaging Het
Clcn3 A T 8: 61,366,129 (GRCm39) N814K probably benign Het
Col6a3 T C 1: 90,724,293 (GRCm39) D2019G probably damaging Het
Corin C A 5: 72,511,282 (GRCm39) G432C probably damaging Het
Cyld C T 8: 89,432,403 (GRCm39) Q134* probably null Het
Dhh C A 15: 98,795,864 (GRCm39) R97L probably damaging Het
Dnah5 T C 15: 28,449,315 (GRCm39) V4239A probably benign Het
Dock2 T C 11: 34,599,692 (GRCm39) I296V probably benign Het
Gabbr1 T C 17: 37,359,306 (GRCm39) probably benign Het
Gbp10 T C 5: 105,367,815 (GRCm39) probably null Het
Itgam T A 7: 127,711,644 (GRCm39) L753Q probably damaging Het
Kbtbd12 A G 6: 88,590,922 (GRCm39) V430A probably benign Het
Kdm4a A G 4: 118,017,656 (GRCm39) V470A possibly damaging Het
Larp1b A T 3: 40,924,960 (GRCm39) T146S probably benign Het
Lrrfip2 T A 9: 111,028,728 (GRCm39) probably benign Het
Mier2 A T 10: 79,385,418 (GRCm39) C137S possibly damaging Het
Morc3 A G 16: 93,657,455 (GRCm39) Y393C probably damaging Het
Ms4a7 A T 19: 11,299,751 (GRCm39) M217K possibly damaging Het
Msl1 A G 11: 98,696,191 (GRCm39) probably null Het
Myh2 A G 11: 67,083,860 (GRCm39) E1546G probably benign Het
Nlgn2 A G 11: 69,716,675 (GRCm39) L622P possibly damaging Het
Oga T A 19: 45,756,301 (GRCm39) E447D probably benign Het
Or10q3 A G 19: 11,847,888 (GRCm39) S231P probably benign Het
Or1e33 A G 11: 73,738,298 (GRCm39) Y218H probably damaging Het
Or1j11 A C 2: 36,312,105 (GRCm39) K232Q probably benign Het
Or56b1b T A 7: 108,164,343 (GRCm39) I220L possibly damaging Het
Or5k17 T C 16: 58,746,929 (GRCm39) M2V probably benign Het
Phf20 C A 2: 156,118,577 (GRCm39) S427* probably null Het
Pirt G A 11: 66,816,794 (GRCm39) S35N probably damaging Het
Prss28 C A 17: 25,529,011 (GRCm39) N117K possibly damaging Het
Rbbp8nl A G 2: 179,925,104 (GRCm39) C34R probably damaging Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Sema5a T C 15: 32,474,514 (GRCm39) probably benign Het
Sh3bp2 T A 5: 34,713,347 (GRCm39) L196Q probably damaging Het
Slc26a9 G T 1: 131,685,256 (GRCm39) D325Y probably damaging Het
Slc4a1 A G 11: 102,244,729 (GRCm39) V622A probably benign Het
Thbd A G 2: 148,249,016 (GRCm39) V284A probably benign Het
Tmc5 T C 7: 118,251,733 (GRCm39) F609L possibly damaging Het
Tnr T C 1: 159,695,576 (GRCm39) probably benign Het
Ttc17 A T 2: 94,163,177 (GRCm39) Y881* probably null Het
Ttc41 A T 10: 86,612,488 (GRCm39) T1254S probably benign Het
Ttn C T 2: 76,640,347 (GRCm39) D13754N probably damaging Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdr19 A G 5: 65,382,709 (GRCm39) I478V probably damaging Het
Zan T C 5: 137,379,116 (GRCm39) probably benign Het
Zp2 T A 7: 119,737,414 (GRCm39) D258V probably damaging Het
Other mutations in Crppa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Crppa APN 12 36,523,176 (GRCm39) missense probably damaging 1.00
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
R4518:Crppa UTSW 12 36,523,179 (GRCm39) missense possibly damaging 0.81
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
Posted On 2014-05-07