Incidental Mutation 'R6551:Clmp'
ID 521630
Institutional Source Beutler Lab
Gene Symbol Clmp
Ensembl Gene ENSMUSG00000032024
Gene Name CXADR-like membrane protein
Synonyms 9030425E11Rik
MMRRC Submission 044676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6551 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40597258-40696615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40682573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000034522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034522]
AlphaFold Q8R373
Predicted Effect probably benign
Transcript: ENSMUST00000034522
AA Change: V119A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: V119A

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
Meta Mutation Damage Score 0.0779 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 192,856,831 (GRCm39) Q61L probably damaging Het
Acss2 T C 2: 155,393,128 (GRCm39) S285P probably benign Het
Ager A G 17: 34,818,442 (GRCm39) probably null Het
Alkbh7 T A 17: 57,305,945 (GRCm39) Y115* probably null Het
Brwd1 T C 16: 95,795,162 (GRCm39) D2184G possibly damaging Het
Chp1 T A 2: 119,402,294 (GRCm39) H89Q possibly damaging Het
Cryge A T 1: 65,087,796 (GRCm39) M171K probably benign Het
Cttnbp2nl A T 3: 104,912,433 (GRCm39) S484T possibly damaging Het
Dsg3 C A 18: 20,672,968 (GRCm39) P880T unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Espn T C 4: 152,213,223 (GRCm39) Het
Fbxo31 A C 8: 122,291,443 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,342 (GRCm39) V1068A probably damaging Het
Jak1 C A 4: 101,051,040 (GRCm39) probably benign Het
Klra10 A T 6: 130,252,718 (GRCm39) D185E probably benign Het
Lhx1 A C 11: 84,412,739 (GRCm39) D60E probably benign Het
Lyar C A 5: 38,390,616 (GRCm39) A326D probably damaging Het
Muc16 A C 9: 18,473,858 (GRCm39) S1280A possibly damaging Het
Nol9 G A 4: 152,136,325 (GRCm39) V466I possibly damaging Het
Or10d1 C A 9: 39,483,856 (GRCm39) R233L probably benign Het
Or12e8 T C 2: 87,677,005 (GRCm39) V130A possibly damaging Het
Or1e17 T C 11: 73,831,129 (GRCm39) I19T probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2w3b A T 11: 58,623,583 (GRCm39) M136K probably damaging Het
Or2y10 G T 11: 49,454,816 (GRCm39) V23L probably benign Het
Pik3c2a A T 7: 116,016,731 (GRCm39) I342N probably damaging Het
Pnldc1 A G 17: 13,124,456 (GRCm39) M133T probably damaging Het
Rab11fip1 G A 8: 27,646,512 (GRCm39) S188L probably damaging Het
Rapgef2 A T 3: 79,122,342 (GRCm39) probably null Het
Rnf103 G A 6: 71,487,349 (GRCm39) C660Y probably damaging Het
Rph3al G A 11: 75,797,372 (GRCm39) S108F possibly damaging Het
Srsf7 A C 17: 80,511,648 (GRCm39) probably benign Het
Ssrp1 A G 2: 84,871,450 (GRCm39) probably null Het
Tamm41 T C 6: 114,989,142 (GRCm39) D284G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem39b A G 4: 129,585,896 (GRCm39) V25A probably benign Het
Tmem88b G T 4: 155,870,149 (GRCm39) probably benign Het
Unk T C 11: 115,941,550 (GRCm39) W266R probably damaging Het
Usp8 T A 2: 126,575,102 (GRCm39) probably benign Het
Zbtb48 T G 4: 152,106,678 (GRCm39) Q142P probably benign Het
Zdhhc18 T C 4: 133,340,960 (GRCm39) T267A probably benign Het
Zfp335 G A 2: 164,751,285 (GRCm39) P94S 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
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
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'- TACGTATTCCAGCCGTCATG -3'
(R):5'- ATAGCACTTGAGATGCAGGC -3'

Sequencing Primer
(F):5'- TGTCTACAATAACTTGACCGAGGAGC -3'
(R):5'- CTTTTAAGTCCAGCACTCAGGAGG -3'
Posted On 2018-06-06