Incidental Mutation 'IGL00972:Icam5'
ID 28252
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL00972
Quality Score
Status
Chromosome 9
Chromosomal Location 20943372-20950331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20945993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 275 (V275E)
Ref Sequence ENSEMBL: ENSMUSP00000019616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001040] [ENSMUST00000019616] [ENSMUST00000215077]
AlphaFold Q60625
Predicted Effect probably benign
Transcript: ENSMUST00000001040
SMART Domains Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000019616
AA Change: V275E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: V275E

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000215077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216917
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Icam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Icam5 APN 9 20,948,091 (GRCm39) critical splice donor site probably null
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
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
Posted On 2013-04-17