Incidental Mutation 'R0030:Crip1'
ID15282
Institutional Source Beutler Lab
Gene Symbol Crip1
Ensembl Gene ENSMUSG00000006360
Gene Namecysteine-rich protein 1 (intestinal)
SynonymsCRP1, Crip
MMRRC Submission 038324-MU
Accession Numbers

Ncbi RefSeq: NM_007763.3; MGI:88501

Is this an essential gene? Possibly non essential (E-score: 0.350) question?
Stock #R0030 (G1)
Quality Score
Status Validated
Chromosome12
Chromosomal Location113146316-113153879 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 113153376 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006523] [ENSMUST00000049271] [ENSMUST00000196755] [ENSMUST00000199089] [ENSMUST00000200522] [ENSMUST00000200553]
Predicted Effect probably null
Transcript: ENSMUST00000006523
SMART Domains Protein: ENSMUSP00000006523
Gene: ENSMUSG00000006360

DomainStartEndE-ValueType
LIM 3 55 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049271
SMART Domains Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:DUF4509 41 221 4.8e-65 PFAM
low complexity region 233 245 N/A INTRINSIC
Pfam:DUF4510 258 418 3.1e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196505
Predicted Effect probably benign
Transcript: ENSMUST00000196755
SMART Domains Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Pfam:DUF4509 40 138 4.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198909
Predicted Effect probably null
Transcript: ENSMUST00000199089
SMART Domains Protein: ENSMUSP00000142803
Gene: ENSMUSG00000006360

DomainStartEndE-ValueType
LIM 54 106 9.5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199382
Predicted Effect probably benign
Transcript: ENSMUST00000200522
Predicted Effect probably null
Transcript: ENSMUST00000200553
SMART Domains Protein: ENSMUSP00000143680
Gene: ENSMUSG00000006360

DomainStartEndE-ValueType
LIM 3 55 2e-14 SMART
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]
Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,637,747 S316R probably damaging Het
Brwd1 A G 16: 96,021,256 S1250P probably damaging Het
Cacna1s T C 1: 136,094,989 probably null Het
Cass4 G T 2: 172,427,842 E617* probably null Het
Cct4 T C 11: 23,001,357 probably benign Het
Cdh7 C T 1: 110,138,068 Q691* probably null Het
Dnah5 A T 15: 28,451,517 D4367V probably benign Het
Dock3 A G 9: 106,912,313 V1514A possibly damaging Het
Eps15l1 A G 8: 72,373,050 S646P probably benign Het
Faap24 A T 7: 35,392,860 F211I probably damaging Het
Flrt3 A T 2: 140,660,317 Y464N probably damaging Het
Foxi2 A G 7: 135,411,616 T192A probably damaging Het
Gm7298 T A 6: 121,774,050 F695L probably benign Het
Ifnk T G 4: 35,152,489 V139G probably benign Het
Kif18a A T 2: 109,333,318 I671L probably benign Het
Lcn10 T C 2: 25,685,081 F154L probably damaging Het
Med12l T G 3: 59,248,655 L1198R probably damaging Het
Mmp23 G A 4: 155,651,311 R268* probably null Het
Mrps30 T C 13: 118,382,995 D298G possibly damaging Het
Myh7 T A 14: 54,991,970 T124S probably benign Het
Odf4 T A 11: 68,926,941 E9D probably benign Het
Pqlc2 A G 4: 139,306,453 S52P probably damaging Het
Ptchd4 T A 17: 42,317,108 C153* probably null Het
Scp2 T A 4: 108,107,690 probably null Het
Slc16a10 A G 10: 40,076,823 V225A probably benign Het
Tbk1 A G 10: 121,561,624 V381A probably benign Het
Tdrd6 T C 17: 43,626,591 K1189E possibly damaging Het
Ttc39a C A 4: 109,422,973 H151N probably benign Het
Ush2a C T 1: 188,822,657 T3544M possibly damaging Het
Vnn1 A G 10: 23,900,846 H365R probably benign Het
Other mutations in Crip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Crip1 APN 12 113152135 missense probably damaging 1.00
IGL00562:Crip1 APN 12 113153612 splice site probably null
IGL00563:Crip1 APN 12 113153612 splice site probably null
R1879:Crip1 UTSW 12 113153332 missense probably damaging 1.00
R4542:Crip1 UTSW 12 113153489 missense probably damaging 1.00
R5918:Crip1 UTSW 12 113153667 splice site probably null
Protein Function and Prediction

Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family of proteins that are proposed to be involved in cellular growth and differentiation (1;2).  CRIP binds zinc during transmucosal zinc transport (3).  CRIP1 is proposed to influence various cellular and immunological signalling pathways involved in cellular differentiation, protein-protein interactions during transcription, immune response, and cytokine expression (1;2;4).  CRIP1 has also been proposed to be a biomarker for breast cancer and precursor lesions (5) as well as in colorectal, cervical and prostatic cancer; downregulation of CRIP1 is observed in pancreatic carcinoma (6-8). Overexpression of CRIP1 results in significantly shorter overall survival in patients with gastric cancer (9).

Expression/Localization

In the rat, Crip is highly expressed in the small intestine, with lower levels in adult heart and spleen (1;10).

Background

CRIP transgenic mice challenged with lipopolysaccharide (LPS) had lower serum concentrations of interferon-gamma and tumor necrosis factor-alpha; IL-6 and IL-10 were higher (1;2).

References
Posted On2012-12-17
Science WriterAnne Murray