Incidental Mutation 'IGL01336:Clmp'
ID 74635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clmp
Ensembl Gene ENSMUSG00000032024
Gene Name CXADR-like membrane protein
Synonyms 9030425E11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01336
Quality Score
Status
Chromosome 9
Chromosomal Location 40597258-40696615 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 40693906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 374 (*374W)
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
AlphaFold Q8R373
Predicted Effect probably null
Transcript: ENSMUST00000034522
AA Change: *374W
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: *374W

DomainStartEndE-ValueType
IG 19 128 3.46e-7 SMART
IGc2 143 214 1.29e-6 SMART
transmembrane domain 233 255 N/A INTRINSIC
low complexity region 287 313 N/A INTRINSIC
low complexity region 321 332 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149386
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 type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,386,736 (GRCm39) L599I probably benign Het
Adcyap1 A G 17: 93,511,392 (GRCm39) D122G probably benign Het
Ahr A G 12: 35,553,839 (GRCm39) V760A probably benign Het
Ankrd7 T C 6: 18,868,277 (GRCm39) V133A probably benign Het
Bsn A G 9: 107,988,984 (GRCm39) V2256A probably damaging Het
Cblb A G 16: 52,006,592 (GRCm39) K765E probably benign Het
Ddc A G 11: 11,796,630 (GRCm39) probably null Het
Dnah10 A G 5: 124,852,576 (GRCm39) Y1878C probably damaging Het
Ei24 A G 9: 36,697,777 (GRCm39) probably null Het
Ikbke A G 1: 131,201,493 (GRCm39) M118T probably damaging Het
Il6st T C 13: 112,616,773 (GRCm39) S107P possibly damaging Het
Map2k6 A G 11: 110,387,237 (GRCm39) Y203C probably damaging Het
Mettl27 C T 5: 134,964,734 (GRCm39) probably benign Het
Mrps14 G A 1: 160,024,565 (GRCm39) W32* probably null Het
Naaa A C 5: 92,412,992 (GRCm39) M208R probably benign Het
Nat2 A G 8: 67,954,193 (GRCm39) Y101C probably damaging Het
Ncoa3 A G 2: 165,896,443 (GRCm39) S449G probably benign Het
Or4e5 A G 14: 52,728,205 (GRCm39) I72T probably damaging Het
Or6z7 T C 7: 6,483,997 (GRCm39) I53V probably benign Het
Phykpl G A 11: 51,490,283 (GRCm39) probably benign Het
Psma5-ps T C 10: 85,150,028 (GRCm39) noncoding transcript Het
Rasgrf1 A T 9: 89,873,583 (GRCm39) M631L probably benign Het
Rgma G A 7: 73,059,066 (GRCm39) V57M possibly damaging Het
Samd4b G T 7: 28,113,388 (GRCm39) D192E probably benign Het
Sesn2 T C 4: 132,226,678 (GRCm39) T139A probably benign Het
Slc30a6 A G 17: 74,715,834 (GRCm39) probably benign Het
Spata31f1e T A 4: 42,793,784 (GRCm39) Q116L possibly damaging Het
Stra8 T C 6: 34,910,123 (GRCm39) Y182H possibly damaging Het
Trim31 C A 17: 37,220,269 (GRCm39) A395E probably damaging Het
Trp53bp2 G T 1: 182,259,148 (GRCm39) R67L probably damaging Het
Trpa1 A C 1: 14,957,104 (GRCm39) probably benign Het
Wdr91 G A 6: 34,886,478 (GRCm39) probably benign Het
Other mutations in Clmp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Clmp APN 9 40,693,703 (GRCm39) missense possibly damaging 0.91
IGL02565:Clmp APN 9 40,683,711 (GRCm39) missense probably damaging 1.00
IGL02953:Clmp APN 9 40,685,683 (GRCm39) missense probably damaging 1.00
IGL02976:Clmp APN 9 40,692,520 (GRCm39) missense possibly damaging 0.92
IGL03357:Clmp APN 9 40,597,623 (GRCm39) utr 5 prime probably benign
IGL03383:Clmp APN 9 40,685,737 (GRCm39) missense probably damaging 1.00
R0530:Clmp UTSW 9 40,672,302 (GRCm39) missense probably benign 0.00
R0539:Clmp UTSW 9 40,693,782 (GRCm39) missense probably benign 0.00
R1453:Clmp UTSW 9 40,693,737 (GRCm39) missense probably damaging 0.98
R1623:Clmp UTSW 9 40,693,856 (GRCm39) missense probably benign
R2899:Clmp UTSW 9 40,693,688 (GRCm39) missense probably damaging 1.00
R4175:Clmp UTSW 9 40,682,432 (GRCm39) missense probably benign 0.04
R5570:Clmp UTSW 9 40,683,826 (GRCm39) critical splice donor site probably null
R6048:Clmp UTSW 9 40,682,405 (GRCm39) missense probably damaging 1.00
R6240:Clmp UTSW 9 40,693,707 (GRCm39) missense probably damaging 1.00
R6551:Clmp UTSW 9 40,682,573 (GRCm39) missense probably benign
R7216:Clmp UTSW 9 40,672,205 (GRCm39) missense possibly damaging 0.62
R8179:Clmp UTSW 9 40,692,475 (GRCm39) missense probably benign 0.31
R8813:Clmp UTSW 9 40,692,549 (GRCm39) nonsense probably null
Posted On 2013-10-07