Incidental Mutation 'IGL03357:Clmp'
ID420002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clmp
Ensembl Gene ENSMUSG00000032024
Gene NameCXADR-like membrane protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03357
Quality Score
Status
Chromosome9
Chromosomal Location40685962-40785319 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 40686327 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
Predicted Effect probably benign
Transcript: ENSMUST00000034522
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024

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: ENSMUST00000139577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141759
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C T 19: 9,009,325 probably benign Het
Asah1 A G 8: 41,346,196 probably benign Het
BC005561 T G 5: 104,520,468 V952G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chd6 T C 2: 161,018,016 probably benign Het
Chn2 G A 6: 54,194,077 R47Q probably benign Het
Col11a1 G A 3: 114,194,091 G245R probably damaging Het
Cyp4a32 T A 4: 115,611,601 S395T probably benign Het
Dcc A T 18: 71,327,554 I1155K probably damaging Het
Dpy19l4 G A 4: 11,267,615 H442Y probably damaging Het
Dpys T C 15: 39,824,216 I395M probably damaging Het
Dpysl2 T C 14: 66,813,287 K374E probably damaging Het
Fryl A T 5: 73,054,059 D660E probably damaging Het
Gabrb2 T C 11: 42,591,944 F210L probably damaging Het
Gm4831 C T 17: 37,111,987 probably benign Het
Igsf10 A T 3: 59,336,211 M234K probably benign Het
Ints11 T C 4: 155,872,124 probably benign Het
Mex3a T A 3: 88,536,246 S210T probably benign Het
Olfr1290 C T 2: 111,489,944 M71I probably benign Het
Olfr1302 G A 2: 111,780,526 V69I probably benign Het
Pde1c A G 6: 56,180,093 V106A probably damaging Het
Pitpnm3 G A 11: 72,070,890 Q284* probably null Het
Pkd1l2 A G 8: 116,995,809 L2420P probably damaging Het
Prpf39 A G 12: 65,061,437 probably benign Het
Prss28 C T 17: 25,309,695 T37I probably benign Het
Serpinb6c A T 13: 33,895,386 S108T probably benign Het
Snx7 T C 3: 117,838,875 H131R probably damaging Het
Tex101 A T 7: 24,668,333 I198K probably damaging Het
Thumpd2 T C 17: 81,044,090 probably benign Het
Ubqln3 A C 7: 104,142,556 I109S probably benign Het
Zfp212 A T 6: 47,930,837 N250I probably benign Het
Other mutations in Clmp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Clmp APN 9 40782610 makesense probably null
IGL01783:Clmp APN 9 40782407 missense possibly damaging 0.91
IGL02565:Clmp APN 9 40772415 missense probably damaging 1.00
IGL02953:Clmp APN 9 40774387 missense probably damaging 1.00
IGL02976:Clmp APN 9 40781224 missense possibly damaging 0.92
IGL03383:Clmp APN 9 40774441 missense probably damaging 1.00
R0530:Clmp UTSW 9 40761006 missense probably benign 0.00
R0539:Clmp UTSW 9 40782486 missense probably benign 0.00
R1453:Clmp UTSW 9 40782441 missense probably damaging 0.98
R1623:Clmp UTSW 9 40782560 missense probably benign
R2899:Clmp UTSW 9 40782392 missense probably damaging 1.00
R4175:Clmp UTSW 9 40771136 missense probably benign 0.04
R5570:Clmp UTSW 9 40772530 critical splice donor site probably null
R6048:Clmp UTSW 9 40771109 missense probably damaging 1.00
R6240:Clmp UTSW 9 40782411 missense probably damaging 1.00
R6551:Clmp UTSW 9 40771277 missense probably benign
R7216:Clmp UTSW 9 40760909 missense possibly damaging 0.62
R8179:Clmp UTSW 9 40781179 missense probably benign 0.31
Posted On2016-08-02