Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Crppa'

25965

Institutional Source

Beutler Lab

Gene Symbol

Crppa

Ensembl Gene

ENSMUSG00000043153

Gene Name

CDP-L-ribitol pyrophosphorylase A

Synonyms

Ispd, 4930579E17Rik

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0329 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

36431449-36739502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36431837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 22 (A22V)

Ref Sequence

ENSEMBL: ENSMUSP00000152392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000171007] [ENSMUST00000220519] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000221895] [ENSMUST00000223068] [ENSMUST00000223205]

AlphaFold

Q5RJG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062041
AA Change: A22V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153
AA Change: A22V

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

unknown
Transcript: ENSMUST00000171007
AA Change: A54T

SMART Domains

Protein: ENSMUSP00000131751
Gene: ENSMUSG00000091007
AA Change: A54T

Domain	Start	End	E-Value	Type
low complexity region	148	163	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220519
AA Change: A22V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000221177

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221452
AA Change: A22V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221895
AA Change: A22V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000223068

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223205
AA Change: A22V

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.0824

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Man2c1	T	C	9: 57,048,467 (GRCm39)	V777A	probably benign	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,998,127 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGAATCAGGGTGCCATCTGTG -3'
(R):5'- TGATGAGCGGCCTTTCCAGAAC -3'

Sequencing Primer
(F):5'- GCACACATATGGGTCTTGAACTG -3'
(R):5'- CTTTCCAGAACCCGGCAG -3'

Posted On

2013-04-16