Incidental Mutation 'R2899:Clmp'
| ID |
261411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clmp
|
| Ensembl Gene |
ENSMUSG00000032024 |
| Gene Name |
CXADR-like membrane protein |
| Synonyms |
9030425E11Rik |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40597258-40696615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40693688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 302
(S302P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034522]
|
| AlphaFold |
Q8R373 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034522
AA Change: S302P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: S302P
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.1700 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
| Other mutations in Clmp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- TCCTTAACTGACTGCCTTGGAG -3'
(R):5'- ACAGTTTGGAAGGCTTTGCTC -3'
Sequencing Primer
(F):5'- AACTGACTGCCTTGGAGGTTTATG -3'
(R):5'- AAGGCTTTGCTCTGGCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation