Incidental Mutation 'R4132:Icam5'
| ID |
314706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Icam5
|
| Ensembl Gene |
ENSMUSG00000032174 |
| Gene Name |
intercellular adhesion molecule 5, telencephalin |
| Synonyms |
Tlcn, TLN, CD50, Icam3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20943372-20950331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20947953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 617
(I617T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019616]
|
| AlphaFold |
Q60625 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019616
AA Change: I617T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: I617T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
32 |
122 |
1.5e-17 |
PFAM |
|
Pfam:Ig_3
|
121 |
202 |
5.6e-4 |
PFAM |
|
low complexity region
|
284 |
292 |
N/A |
INTRINSIC |
|
IG_like
|
329 |
405 |
1.45e1 |
SMART |
|
IG
|
416 |
488 |
1.72e-2 |
SMART |
|
IG
|
499 |
569 |
5.84e-5 |
SMART |
|
IG_like
|
580 |
662 |
3.57e1 |
SMART |
|
IG
|
673 |
742 |
3.49e-3 |
SMART |
|
IGc2
|
758 |
819 |
1.97e-11 |
SMART |
|
transmembrane domain
|
833 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
902 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216917
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
T |
C |
1: 92,812,822 (GRCm39) |
M496V |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,974,779 (GRCm39) |
I531L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhdc4 |
C |
T |
8: 122,524,804 (GRCm39) |
G375R |
possibly damaging |
Het |
| Myo5c |
G |
A |
9: 75,159,850 (GRCm39) |
V293I |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,169,241 (GRCm39) |
R672* |
probably null |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,107 (GRCm39) |
I317T |
possibly damaging |
Het |
| Safb |
C |
A |
17: 56,907,848 (GRCm39) |
|
probably benign |
Het |
| Tspan5 |
C |
T |
3: 138,602,628 (GRCm39) |
R106* |
probably null |
Het |
| Ubap2l |
A |
G |
3: 89,916,491 (GRCm39) |
Y908H |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,141,159 (GRCm39) |
N372S |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,819 (GRCm39) |
I156V |
probably benign |
Het |
| Zbtb8os |
A |
G |
4: 129,229,906 (GRCm39) |
Y24C |
probably damaging |
Het |
|
| Other mutations in Icam5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Icam5
|
APN |
9 |
20,948,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00972:Icam5
|
APN |
9 |
20,945,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01690:Icam5
|
APN |
9 |
20,946,095 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02334:Icam5
|
APN |
9 |
20,946,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03387:Icam5
|
APN |
9 |
20,945,097 (GRCm39) |
missense |
probably benign |
0.10 |
|
H8562:Icam5
|
UTSW |
9 |
20,946,442 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0002:Icam5
|
UTSW |
9 |
20,944,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0594:Icam5
|
UTSW |
9 |
20,946,894 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0605:Icam5
|
UTSW |
9 |
20,943,493 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1485:Icam5
|
UTSW |
9 |
20,947,702 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1773:Icam5
|
UTSW |
9 |
20,944,821 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1934:Icam5
|
UTSW |
9 |
20,946,082 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3125:Icam5
|
UTSW |
9 |
20,947,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4117:Icam5
|
UTSW |
9 |
20,948,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4250:Icam5
|
UTSW |
9 |
20,949,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4470:Icam5
|
UTSW |
9 |
20,946,802 (GRCm39) |
nonsense |
probably null |
|
|
R4471:Icam5
|
UTSW |
9 |
20,946,802 (GRCm39) |
nonsense |
probably null |
|
|
R4826:Icam5
|
UTSW |
9 |
20,949,099 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5182:Icam5
|
UTSW |
9 |
20,946,106 (GRCm39) |
missense |
probably benign |
|
|
R5586:Icam5
|
UTSW |
9 |
20,946,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6200:Icam5
|
UTSW |
9 |
20,950,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Icam5
|
UTSW |
9 |
20,944,454 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6291:Icam5
|
UTSW |
9 |
20,948,217 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7229:Icam5
|
UTSW |
9 |
20,948,297 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7395:Icam5
|
UTSW |
9 |
20,946,738 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7414:Icam5
|
UTSW |
9 |
20,948,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7423:Icam5
|
UTSW |
9 |
20,948,201 (GRCm39) |
missense |
probably benign |
|
|
R7961:Icam5
|
UTSW |
9 |
20,950,051 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8032:Icam5
|
UTSW |
9 |
20,944,514 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8286:Icam5
|
UTSW |
9 |
20,946,822 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8899:Icam5
|
UTSW |
9 |
20,948,415 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9185:Icam5
|
UTSW |
9 |
20,950,165 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9300:Icam5
|
UTSW |
9 |
20,946,846 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9348:Icam5
|
UTSW |
9 |
20,943,427 (GRCm39) |
start codon destroyed |
probably null |
0.68 |
|
R9481:Icam5
|
UTSW |
9 |
20,948,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Icam5
|
UTSW |
9 |
20,946,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCACGGTGGAATGTGAGTAG -3'
(R):5'- GCAGATCAGCCACCATAAGG -3'
Sequencing Primer
(F):5'- TGACTGCAGAGAAGTCCGCAC -3'
(R):5'- CCACCATAAGGAGGGACGTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation