Incidental Mutation 'R6291:Icam5'
ID 508437
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) question?
Stock # R6291 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 20943372-20950331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20948217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 675 (H675R)
Ref Sequence ENSEMBL: ENSMUSP00000019616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019616]
AlphaFold Q60625
Predicted Effect probably benign
Transcript: ENSMUST00000019616
AA Change: H675R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: H675R

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 noncoding transcript
Transcript: ENSMUST00000216917
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,293,173 (GRCm39) G5D possibly damaging Het
Adamts9 T C 6: 92,867,101 (GRCm39) K95R probably damaging Het
Adap1 G T 5: 139,259,246 (GRCm39) L314M probably benign Het
Alkbh1 T A 12: 87,475,864 (GRCm39) E306V possibly damaging Het
Alpk2 T A 18: 65,438,972 (GRCm39) D1274V possibly damaging Het
Ankrd31 A C 13: 97,014,746 (GRCm39) K1188N possibly damaging Het
Aox1 T A 1: 58,369,965 (GRCm39) M759K probably damaging Het
Atp13a3 T A 16: 30,155,061 (GRCm39) D961V probably damaging Het
Bcl11a G A 11: 24,108,321 (GRCm39) G100R probably damaging Het
Bpifc G A 10: 85,812,122 (GRCm39) A362V probably damaging Het
Btaf1 C T 19: 36,950,408 (GRCm39) T546I probably benign Het
Casd1 C A 6: 4,619,834 (GRCm39) P193Q probably damaging Het
Cdhr1 T C 14: 36,811,422 (GRCm39) T230A probably benign Het
Celsr3 T G 9: 108,706,041 (GRCm39) D841E probably damaging Het
Cenpj T C 14: 56,789,433 (GRCm39) D872G probably benign Het
Cep95 G T 11: 106,706,422 (GRCm39) A559S probably damaging Het
Chpt1 A T 10: 88,311,306 (GRCm39) C62* probably null Het
Cspg4b T A 13: 113,456,981 (GRCm39) I1009N possibly damaging Het
Cspp1 A G 1: 10,134,559 (GRCm39) K103R probably damaging Het
Ctla4 T C 1: 60,951,837 (GRCm39) V122A probably benign Het
Cyp3a11 A G 5: 145,799,237 (GRCm39) F317L possibly damaging Het
Daam1 T C 12: 71,993,025 (GRCm39) L338P unknown Het
Dcc T A 18: 71,815,238 (GRCm39) I379L probably benign Het
Dennd2c C A 3: 103,038,925 (GRCm39) C24* probably null Het
Dnai3 G A 3: 145,772,648 (GRCm39) S466L probably benign Het
Dnajc12 A G 10: 63,233,053 (GRCm39) I65V probably benign Het
Dock3 T A 9: 106,785,631 (GRCm39) M208L probably benign Het
Dsg1b T C 18: 20,537,848 (GRCm39) I588T possibly damaging Het
Eif1b T C 9: 120,323,206 (GRCm39) L22S probably benign Het
Ep300 T A 15: 81,532,708 (GRCm39) S1649T unknown Het
Eps15 CAAA CAA 4: 109,162,900 (GRCm39) probably null Het
Ercc6 A T 14: 32,291,943 (GRCm39) E1102D probably benign Het
Gsdmc3 T C 15: 63,732,090 (GRCm39) N312S probably benign Het
Guca2b A T 4: 119,514,890 (GRCm39) L57Q probably damaging Het
Heatr5b G T 17: 79,069,526 (GRCm39) H1740Q probably benign Het
Hecw1 G A 13: 14,697,592 (GRCm39) probably benign Het
Il18rap T C 1: 40,564,049 (GRCm39) F56L probably benign Het
Iqgap3 T A 3: 87,997,037 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,984 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,585 (GRCm39) D315V probably damaging Het
Kif24 A G 4: 41,413,959 (GRCm39) Y328H probably damaging Het
Kmt2a A T 9: 44,744,171 (GRCm39) probably benign Het
Kng1 A G 16: 22,898,475 (GRCm39) E625G probably damaging Het
Man2b1 C T 8: 85,823,675 (GRCm39) T973I probably benign Het
Masp2 G A 4: 148,687,210 (GRCm39) V31M probably damaging Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naa15 G A 3: 51,350,212 (GRCm39) G103D probably damaging Het
Or4f15 A G 2: 111,813,969 (GRCm39) V150A probably benign Het
Or5m11b A G 2: 85,805,926 (GRCm39) Y113C probably damaging Het
Or7e177 T A 9: 20,211,899 (GRCm39) D134E probably damaging Het
Papln A G 12: 83,829,789 (GRCm39) N970S probably benign Het
Pick1 T A 15: 79,135,928 (GRCm39) probably null Het
Pigr A C 1: 130,769,498 (GRCm39) D103A probably benign Het
Plekhf1 A C 7: 37,921,029 (GRCm39) F180V possibly damaging Het
Plxnc1 A G 10: 94,669,504 (GRCm39) probably null Het
Polr3f A G 2: 144,376,308 (GRCm39) I136V probably damaging Het
Ppp2r2c T C 5: 37,097,468 (GRCm39) M218T possibly damaging Het
Prox2 C T 12: 85,136,420 (GRCm39) V466I probably damaging Het
Prrc2a G A 17: 35,373,909 (GRCm39) L1479F probably damaging Het
Rbm24 T A 13: 46,575,313 (GRCm39) probably null Het
Rcc1l A T 5: 134,195,560 (GRCm39) probably null Het
Ripk4 A C 16: 97,556,323 (GRCm39) L140R probably damaging Het
Rmnd1 A T 10: 4,372,135 (GRCm39) L188Q probably damaging Het
Rnf170 C T 8: 26,630,992 (GRCm39) P249S probably damaging Het
Rras A G 7: 44,667,595 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn7a T A 2: 66,530,458 (GRCm39) D629V probably damaging Het
Sipa1l3 A G 7: 29,087,558 (GRCm39) S556P probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Snca C T 6: 60,792,702 (GRCm39) A69T probably damaging Het
Snx2 T C 18: 53,342,737 (GRCm39) probably null Het
Spp1 T A 5: 104,587,242 (GRCm39) S109T possibly damaging Het
Stoml3 T C 3: 53,414,937 (GRCm39) L243P probably damaging Het
Susd2 A G 10: 75,473,408 (GRCm39) F789L possibly damaging Het
Sycp1 A G 3: 102,816,277 (GRCm39) M419T probably damaging Het
Thoc1 T C 18: 9,993,330 (GRCm39) V563A probably benign Het
Tmprss11g T C 5: 86,635,281 (GRCm39) I398V probably damaging Het
Tox3 A G 8: 90,975,566 (GRCm39) L355P probably damaging Het
Tpp1 A G 7: 105,396,223 (GRCm39) I492T probably benign Het
Trim21 A T 7: 102,213,289 (GRCm39) L3Q probably damaging Het
Ttn A C 2: 76,738,080 (GRCm39) V4153G probably benign Het
Ttn T C 2: 76,744,638 (GRCm39) probably benign Het
Unc80 A G 1: 66,560,756 (GRCm39) E828G possibly damaging Het
Vav3 A G 3: 109,416,170 (GRCm39) N263S possibly damaging Het
Vmn1r183 A C 7: 23,754,982 (GRCm39) T262P possibly damaging Het
Vmn2r67 G A 7: 84,799,142 (GRCm39) P522S possibly damaging Het
Vps35 T A 8: 86,026,086 (GRCm39) M1L probably benign Het
Xpo7 A T 14: 70,942,130 (GRCm39) L79* probably null Het
Zc3h14 G A 12: 98,726,087 (GRCm39) R324H probably damaging Het
Zfp330 T C 8: 83,499,613 (GRCm39) T6A probably damaging Het
Zfp948 T A 17: 21,807,286 (GRCm39) H159Q unknown Het
Other mutations in Icam5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TAACCTGTCACCGGGCATTTAC -3'
(R):5'- ACAGTGACCGTCCGTGAATC -3'

Sequencing Primer
(F):5'- GGGCATTTACCTCTGCAACG -3'
(R):5'- TCCGTGAATCCGTGCCATG -3'
Posted On 2018-03-15