Incidental Mutation 'R5488:Cripto'
ID 430474
Institutional Source Beutler Lab
Gene Symbol Cripto
Ensembl Gene ENSMUSG00000032494
Gene Name cripto, EGF-CFC family member
Synonyms CR1, Tdgf1
MMRRC Submission 043049-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R5488 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110768676-110775226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110772265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 44 (R44C)
Ref Sequence ENSEMBL: ENSMUSP00000035075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035075] [ENSMUST00000197460] [ENSMUST00000199196] [ENSMUST00000199782]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035075
AA Change: R44C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000035075
Gene: ENSMUSG00000032494
AA Change: R44C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 65 91 1.8e1 SMART
Pfam:CFC 99 133 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197460
AA Change: R44C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143394
Gene: ENSMUSG00000032494
AA Change: R44C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000199196
SMART Domains Protein: ENSMUSP00000142397
Gene: ENSMUSG00000032494

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199782
SMART Domains Protein: ENSMUSP00000143669
Gene: ENSMUSG00000032494

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 31 57 8.9e-2 SMART
Pfam:CFC 65 90 1.4e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in rostral-caudal axis formation, embryonic development and heart development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,473 (GRCm39) V817D probably damaging Het
Abca5 A G 11: 110,183,009 (GRCm39) V1016A probably benign Het
Ano2 G T 6: 126,016,216 (GRCm39) M916I possibly damaging Het
Aqr T C 2: 113,963,554 (GRCm39) N632S probably damaging Het
Cd48 G A 1: 171,523,273 (GRCm39) V39I possibly damaging Het
Cdcp3 A G 7: 130,848,324 (GRCm39) D710G probably damaging Het
Cdk17 A G 10: 93,068,274 (GRCm39) T344A probably damaging Het
Chd8 A T 14: 52,450,505 (GRCm39) probably benign Het
Col4a1 A T 8: 11,362,550 (GRCm39) probably benign Het
Col9a3 G A 2: 180,258,318 (GRCm39) R579H probably damaging Het
Cyp2c69 T G 19: 39,839,603 (GRCm39) Q340P probably null Het
D630003M21Rik T A 2: 158,058,941 (GRCm39) T320S probably benign Het
D630045J12Rik A T 6: 38,173,782 (GRCm39) S129T possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fam13a A T 6: 59,001,303 (GRCm39) L8Q probably null Het
Fam83b T C 9: 76,452,881 (GRCm39) N62S probably benign Het
Foxred1 A T 9: 35,121,266 (GRCm39) V94E probably damaging Het
Gprc5a T C 6: 135,055,868 (GRCm39) V105A probably damaging Het
Gvin3 T A 7: 106,200,797 (GRCm39) noncoding transcript Het
Itga2 A T 13: 114,979,971 (GRCm39) W1077R probably damaging Het
Kat6b A G 14: 21,719,332 (GRCm39) D1228G probably damaging Het
Kctd3 A G 1: 188,713,563 (GRCm39) Y391H probably damaging Het
Kdelr2 T A 5: 143,389,784 (GRCm39) I23N probably damaging Het
Kmt2a A T 9: 44,752,335 (GRCm39) probably benign Het
Lao1 A G 4: 118,824,566 (GRCm39) E216G probably damaging Het
Mark4 G T 7: 19,163,532 (GRCm39) probably null Het
Mcm10 A G 2: 4,996,929 (GRCm39) W851R probably damaging Het
Mettl21e T C 1: 44,257,276 (GRCm39) Y14C probably benign Het
Miga1 CACAACAACAACAACAACA CACAACAACAACAACA 3: 152,039,083 (GRCm39) probably benign Het
Mmp20 A G 9: 7,643,958 (GRCm39) probably null Het
Nlrp5 A T 7: 23,117,359 (GRCm39) D361V probably benign Het
Nrip3 T C 7: 109,361,045 (GRCm39) T210A probably damaging Het
Or12d2 T C 17: 37,624,559 (GRCm39) T239A probably damaging Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Pcdh10 G A 3: 45,335,803 (GRCm39) G706S probably damaging Het
Pdzd2 G A 15: 12,382,762 (GRCm39) P1197L probably benign Het
Pfkfb3 T C 2: 11,489,480 (GRCm39) S273G probably benign Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Rab40c G A 17: 26,109,643 (GRCm39) T78I probably damaging Het
Rec8 A T 14: 55,860,283 (GRCm39) Q291L probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sart3 A G 5: 113,909,441 (GRCm39) W86R probably damaging Het
Slc6a11 A G 6: 114,220,855 (GRCm39) D462G probably damaging Het
Syne2 A G 12: 75,934,946 (GRCm39) T143A probably benign Het
Tardbp A G 4: 148,703,097 (GRCm39) F289S probably benign Het
Tdpoz1 T A 3: 93,577,974 (GRCm39) Y270F possibly damaging Het
Tmem117 ACCC ACC 15: 94,992,698 (GRCm39) probably null Het
Trim43a A T 9: 88,464,229 (GRCm39) I47F probably damaging Het
Vim A T 2: 13,580,392 (GRCm39) T202S probably benign Het
Vps13b A T 15: 35,770,688 (GRCm39) I2044L probably benign Het
Wdr5 T G 2: 27,415,165 (GRCm39) D192E probably damaging Het
Zmym2 A G 14: 57,193,712 (GRCm39) K1176E possibly damaging Het
Other mutations in Cripto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Cripto APN 9 110,771,691 (GRCm39) missense probably damaging 1.00
IGL03037:Cripto APN 9 110,772,288 (GRCm39) missense probably benign 0.23
R1171:Cripto UTSW 9 110,772,235 (GRCm39) missense probably benign 0.37
R3792:Cripto UTSW 9 110,772,258 (GRCm39) missense probably benign 0.02
R4012:Cripto UTSW 9 110,769,781 (GRCm39) missense probably benign
R5955:Cripto UTSW 9 110,773,281 (GRCm39) missense unknown
R6536:Cripto UTSW 9 110,773,257 (GRCm39) critical splice donor site probably null
R7624:Cripto UTSW 9 110,775,017 (GRCm39) start gained probably benign
R8206:Cripto UTSW 9 110,773,352 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCCCAGCATGAAGTGGCATC -3'
(R):5'- CCTGAGTGTGGAGACCTTTG -3'

Sequencing Primer
(F):5'- GTATCAGAGACTATCAGGGACATTCC -3'
(R):5'- TGGAGACCTTTGGCAAGCAC -3'
Posted On 2016-10-05