Incidental Mutation 'R1453:Clmp'
ID 161612
Institutional Source Beutler Lab
Gene Symbol Clmp
Ensembl Gene ENSMUSG00000032024
Gene Name CXADR-like membrane protein
Synonyms 9030425E11Rik
MMRRC Submission 039508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1453 (G1)
Quality Score 210
Status Not validated
Chromosome 9
Chromosomal Location 40597258-40696615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 40693737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tryptophan at position 318 (S318W)
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
AlphaFold Q8R373
Predicted Effect probably damaging
Transcript: ENSMUST00000034522
AA Change: S318W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: S318W

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,862,763 (GRCm39) I240M probably benign Het
Abcd3 A T 3: 121,558,710 (GRCm39) D595E probably damaging Het
Akap9 A G 5: 4,025,614 (GRCm39) probably null Het
Arpc1b A G 5: 145,062,555 (GRCm39) D223G probably damaging Het
Atp6ap1l T A 13: 91,046,866 (GRCm39) T104S probably benign Het
BC005537 T C 13: 24,989,969 (GRCm39) probably null Het
Ccdc9b T C 2: 118,587,903 (GRCm39) D477G possibly damaging Het
Chrdl2 T C 7: 99,666,197 (GRCm39) V39A possibly damaging Het
Cmas T C 6: 142,717,853 (GRCm39) S323P probably damaging Het
Cnksr3 T C 10: 7,079,132 (GRCm39) T80A probably benign Het
Ddx25 T C 9: 35,453,298 (GRCm39) Y484C probably damaging Het
Dennd6b A G 15: 89,073,075 (GRCm39) V154A probably damaging Het
Dmxl1 G A 18: 49,990,316 (GRCm39) V252I probably benign Het
Dnah2 T C 11: 69,341,876 (GRCm39) Y3003C probably damaging Het
Dnhd1 T C 7: 105,370,480 (GRCm39) probably null Het
Dppa4 G A 16: 48,111,596 (GRCm39) A194T probably damaging Het
Dst T C 1: 34,228,527 (GRCm39) V2218A possibly damaging Het
Dytn G C 1: 63,673,032 (GRCm39) S457C probably damaging Het
Fndc3a G A 14: 72,777,768 (GRCm39) Q1101* probably null Het
Focad A T 4: 88,275,679 (GRCm39) probably null Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gm5093 A G 17: 46,750,622 (GRCm39) F135S probably benign Het
Gmeb1 A T 4: 131,969,759 (GRCm39) D71E possibly damaging Het
Heatr5b G A 17: 79,124,992 (GRCm39) R587C probably damaging Het
Jakmip2 T C 18: 43,692,279 (GRCm39) probably null Het
Mier3 T A 13: 111,841,778 (GRCm39) L111Q probably damaging Het
Mrgprg G A 7: 143,318,779 (GRCm39) S111F possibly damaging Het
Mybl1 T C 1: 9,741,901 (GRCm39) K677R probably benign Het
Nhsl1 T C 10: 18,407,323 (GRCm39) S1486P probably damaging Het
Nup133 A G 8: 124,642,114 (GRCm39) I783T probably benign Het
Or10d4c A T 9: 39,558,459 (GRCm39) T146S probably benign Het
Or5an1c A T 19: 12,218,956 (GRCm39) I23K probably benign Het
Pigr A T 1: 130,769,281 (GRCm39) I31L probably benign Het
Plaat5 A G 19: 7,616,999 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel6 T A 2: 87,338,917 (GRCm39) M39K possibly damaging Het
Rapgef6 T A 11: 54,530,553 (GRCm39) probably null Het
Rinl T C 7: 28,496,329 (GRCm39) C437R probably damaging Het
Shank1 T C 7: 43,965,499 (GRCm39) S192P unknown Het
Slc2a10 A T 2: 165,359,570 (GRCm39) Y478F probably damaging Het
Slc37a3 A T 6: 39,343,877 (GRCm39) L12H probably damaging Het
Slit2 T A 5: 48,414,393 (GRCm39) C970S possibly damaging Het
Stard9 T C 2: 120,496,857 (GRCm39) S119P probably damaging Het
Stim2 C A 5: 54,273,451 (GRCm39) D568E probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf3 A G 12: 111,221,757 (GRCm39) E306G probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll6 T C 11: 96,049,714 (GRCm39) S811P possibly damaging Het
Ubr7 A G 12: 102,735,437 (GRCm39) K299E probably benign Het
Urb1 C A 16: 90,593,380 (GRCm39) V251L probably damaging Het
Vps13b G T 15: 35,422,590 (GRCm39) E183D probably damaging Het
Zfp35 T G 18: 24,136,557 (GRCm39) Y300* probably null Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp938 C T 10: 82,063,632 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTAACGAGCGTCAACCCAGCC -3'
(R):5'- GCGCAAGTCAAGTCCACTCTAAGTC -3'

Sequencing Primer
(F):5'- CCCCGGCAGTACTAAAGTTTATC -3'
(R):5'- CACTCTAAGTCAGACAGTTTGGAAG -3'
Posted On 2014-03-14