Incidental Mutation 'IGL02976:Clmp'
ID 406395
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 # IGL02976
Quality Score
Status
Chromosome 9
Chromosomal Location 40597258-40696615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40692520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 263 (Y263S)
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
AlphaFold Q8R373
Predicted Effect possibly damaging
Transcript: ENSMUST00000034522
AA Change: Y263S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: Y263S

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,816,845 (GRCm39) T84A possibly damaging Het
Adgrd1 T A 5: 129,208,661 (GRCm39) S288T probably benign Het
Ano7 T A 1: 93,330,395 (GRCm39) D806E possibly damaging Het
Arl6 A G 16: 59,444,259 (GRCm39) L79P probably damaging Het
Card6 A T 15: 5,129,310 (GRCm39) C695* probably null Het
Carmil1 T C 13: 24,276,534 (GRCm39) N610S possibly damaging Het
Cdc40 A G 10: 40,758,917 (GRCm39) V52A probably benign Het
Chd4 G A 6: 125,098,331 (GRCm39) R369H probably damaging Het
Clasp2 C T 9: 113,735,204 (GRCm39) P1031L probably damaging Het
Cldn34d C T X: 75,626,690 (GRCm39) A121T probably benign Het
Cntn5 A G 9: 10,419,104 (GRCm39) probably benign Het
Folh1 A T 7: 86,412,126 (GRCm39) M215K probably benign Het
Fut1 C T 7: 45,268,744 (GRCm39) R233C probably damaging Het
Gcdh A C 8: 85,615,207 (GRCm39) Y398D probably damaging Het
Gm26741 T G 10: 52,234,910 (GRCm39) S16R possibly damaging Het
Jph3 T A 8: 122,479,823 (GRCm39) L167Q probably damaging Het
Jup A G 11: 100,269,192 (GRCm39) V407A probably benign Het
Kif17 C T 4: 137,996,374 (GRCm39) A117V probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Magi2 C T 5: 20,739,473 (GRCm39) P349S probably damaging Het
Mlycd T C 8: 120,128,224 (GRCm39) M177T possibly damaging Het
Mocos A G 18: 24,799,626 (GRCm39) K287E possibly damaging Het
Morc2b T A 17: 33,356,497 (GRCm39) H425L possibly damaging Het
Mrpl9 T A 3: 94,355,084 (GRCm39) probably benign Het
Myo3a G A 2: 22,434,494 (GRCm39) W825* probably null Het
Npas2 T C 1: 39,326,565 (GRCm39) S17P probably damaging Het
Nrk A G X: 137,892,817 (GRCm39) I1174V probably benign Het
Or1e32 A G 11: 73,705,143 (GRCm39) I255T probably damaging Het
Or4d11 A T 19: 12,013,337 (GRCm39) Y256* probably null Het
Or4k2 G A 14: 50,423,889 (GRCm39) Q262* probably null Het
Parpbp A G 10: 87,947,456 (GRCm39) probably null Het
Pcdh10 T C 3: 45,334,448 (GRCm39) V254A possibly damaging Het
Plod1 C T 4: 147,997,778 (GRCm39) V644I probably damaging Het
Ptpn1 T C 2: 167,813,704 (GRCm39) V149A probably benign Het
Rassf4 T C 6: 116,615,209 (GRCm39) E320G probably damaging Het
Rgl2 T A 17: 34,152,936 (GRCm39) D448E possibly damaging Het
Rnf32 C T 5: 29,411,710 (GRCm39) probably null Het
Rpa1 T A 11: 75,203,628 (GRCm39) D358V probably damaging Het
Sdk2 T C 11: 113,742,668 (GRCm39) N747S probably damaging Het
Slc17a4 A C 13: 24,089,407 (GRCm39) M170R probably damaging Het
Slc5a4a G A 10: 76,006,527 (GRCm39) V310M possibly damaging Het
Spag9 G A 11: 93,974,779 (GRCm39) R463H probably benign Het
Spmip5 A T 19: 58,777,552 (GRCm39) V78E probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt10 A G 15: 89,698,682 (GRCm39) S221P probably benign Het
Tlk1 T A 2: 70,551,935 (GRCm39) K579* probably null Het
Tubgcp3 T C 8: 12,682,300 (GRCm39) Y673C probably damaging Het
Vmn1r223 T C 13: 23,434,165 (GRCm39) F253S probably damaging Het
Vmn2r83 T C 10: 79,304,832 (GRCm39) M14T probably benign Het
Zfp59 A G 7: 27,552,821 (GRCm39) D91G 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
IGL02953:Clmp APN 9 40,685,683 (GRCm39) missense probably damaging 1.00
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 2016-08-02