Incidental Mutation 'IGL02953:Clmp'
ID 364983
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: 0.103) question?
Stock # IGL02953
Quality Score
Status
Chromosome 9
Chromosomal Location 40597258-40696615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40685683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 193 (L193Q)
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
AlphaFold Q8R373
Predicted Effect probably damaging
Transcript: ENSMUST00000034522
AA Change: L193Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: L193Q

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: ENSMUST00000134153
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,534 (GRCm39) S169P possibly damaging Het
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Cep20 T C 16: 14,122,339 (GRCm39) K142E probably benign Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fkbp14 T C 6: 54,556,667 (GRCm39) K161R probably damaging Het
Fuca2 C T 10: 13,383,173 (GRCm39) probably benign Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
Srpx A T X: 9,983,706 (GRCm39) probably benign Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign Het
Other mutations in Clmp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Clmp APN 9 40,693,906 (GRCm39) makesense probably null
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
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 2015-12-18