Incidental Mutation 'R0002:Icam5'
| ID |
64839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Icam5
|
| Ensembl Gene |
ENSMUSG00000032174 |
| Gene Name |
intercellular adhesion molecule 5, telencephalin |
| Synonyms |
Tlcn, TLN, CD50, Icam3 |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
88 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20943372-20950331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20944801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 121
(D121E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001040]
[ENSMUST00000019616]
[ENSMUST00000086399]
[ENSMUST00000215077]
|
| AlphaFold |
Q60625 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001040
|
| SMART Domains |
Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
37 |
128 |
2.5e-17 |
PFAM |
|
Blast:IG_like
|
133 |
224 |
1e-9 |
BLAST |
|
transmembrane domain
|
232 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019616
AA Change: D121E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: D121E
| 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 |
probably benign
Transcript: ENSMUST00000086399
|
| SMART Domains |
Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
IG_like
|
33 |
109 |
5.91e1 |
SMART |
|
IG_like
|
119 |
208 |
1.15e2 |
SMART |
|
IG
|
319 |
396 |
1.49e-2 |
SMART |
|
IG
|
407 |
479 |
3.91e-6 |
SMART |
|
transmembrane domain
|
486 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216917
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
T |
C |
1: 106,640,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Sbk3 |
T |
C |
7: 4,973,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,803 (GRCm39) |
I59V |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,813 (GRCm39) |
Y683C |
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 |
|
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 |
|
R4132:Icam5
|
UTSW |
9 |
20,947,953 (GRCm39) |
missense |
probably benign |
|
|
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'- CCGAACTTTCCGTGAGTACAGTGTG -3'
(R):5'- CTCGGCGAGGCATGAGAAATTGAC -3'
Sequencing Primer
(F):5'- AGTACAGTGTGGACACGCC -3'
(R):5'- AGAAATTGACCCTGTGGTCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation