Incidental Mutation 'IGL02143:Alcam'
ID 281654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alcam
Ensembl Gene ENSMUSG00000022636
Gene Name activated leukocyte cell adhesion molecule
Synonyms MuSC, SC1, BEN, CD166, DM-GRASP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # IGL02143
Quality Score
Status
Chromosome 16
Chromosomal Location 52069359-52273444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52125982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 112 (V112L)
Ref Sequence ENSEMBL: ENSMUSP00000131001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023312] [ENSMUST00000164728] [ENSMUST00000168071] [ENSMUST00000170035]
AlphaFold Q61490
Predicted Effect possibly damaging
Transcript: ENSMUST00000023312
AA Change: V112L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: V112L

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 5.1e-24 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 489 3.8e-6 PFAM
transmembrane domain 528 550 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164728
AA Change: V112L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: V112L

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 1e-22 PFAM
Pfam:Ig_2 147 235 3.8e-2 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 496 1.9e-7 PFAM
Pfam:Ig_2 415 502 1.5e-6 PFAM
transmembrane domain 528 550 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168071
AA Change: V112L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131001
Gene: ENSMUSG00000022636
AA Change: V112L

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170035
AA Change: V112L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: V112L

DomainStartEndE-ValueType
IG 26 131 8.46e-2 SMART
Pfam:C2-set_2 137 231 3.4e-23 PFAM
Pfam:Ig_2 147 235 1.3e-2 PFAM
IG 255 330 6.35e-6 SMART
IG 339 413 6.26e-5 SMART
Pfam:Ig_3 415 491 5.9e-8 PFAM
Pfam:Ig_2 415 502 4.9e-7 PFAM
transmembrane domain 515 537 N/A INTRINSIC
low complexity region 556 569 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice display abnormal motor neuron and retinal ganglion cell morphology and retinal dysplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,194,278 (GRCm39) M1T probably null Het
Ager G A 17: 34,818,092 (GRCm39) G183E probably damaging Het
Amot T A X: 144,270,024 (GRCm39) Q204H probably damaging Het
Ankar C T 1: 72,697,808 (GRCm39) probably null Het
Armc9 A G 1: 86,104,587 (GRCm39) M279V possibly damaging Het
Bpifb1 C T 2: 154,051,849 (GRCm39) T218I probably benign Het
Cacna1f A C X: 7,480,234 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,395,474 (GRCm39) probably null Het
Ccdc57 A T 11: 120,752,069 (GRCm39) C837* probably null Het
Ctbp2 G A 7: 132,592,885 (GRCm39) A808V probably damaging Het
Dcbld2 T C 16: 58,268,889 (GRCm39) probably null Het
Dis3 T C 14: 99,328,754 (GRCm39) probably benign Het
Disp2 T C 2: 118,620,450 (GRCm39) F394S probably damaging Het
Dnah1 T C 14: 31,005,246 (GRCm39) N2336S probably damaging Het
Drap1 C A 19: 5,473,871 (GRCm39) L66F probably damaging Het
Eif5a2 C T 3: 28,847,888 (GRCm39) R109C probably benign Het
Enpp1 A T 10: 24,553,872 (GRCm39) D105E probably damaging Het
Evi5l G A 8: 4,241,293 (GRCm39) M275I probably damaging Het
Flt1 T C 5: 147,515,246 (GRCm39) T1059A probably benign Het
Fndc3c1 T C X: 105,516,340 (GRCm39) probably benign Het
Git1 T C 11: 77,396,813 (GRCm39) V645A possibly damaging Het
Gm7735 T A 16: 88,966,437 (GRCm39) C20* probably null Het
Ighv1-42 G T 12: 114,900,906 (GRCm39) P60T probably benign Het
Jakmip2 A T 18: 43,696,350 (GRCm39) L533Q probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lpin2 T C 17: 71,550,921 (GRCm39) S694P probably damaging Het
Mab21l2 C T 3: 86,454,562 (GRCm39) R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 (GRCm39) S174T probably benign Het
Neb T C 2: 52,181,211 (GRCm39) Y1132C probably damaging Het
Nhsl1 A T 10: 18,387,383 (GRCm39) H219L possibly damaging Het
Nwd2 T A 5: 63,948,996 (GRCm39) probably null Het
Obp1a A C X: 77,134,449 (GRCm39) M18R possibly damaging Het
Or13a19 A T 7: 139,903,505 (GRCm39) K298* probably null Het
Or2ag13 T C 7: 106,473,180 (GRCm39) T91A probably benign Het
Pabpc5 T A X: 118,837,688 (GRCm39) M1K probably null Het
Paxip1 A G 5: 27,980,596 (GRCm39) probably benign Het
Perm1 A G 4: 156,302,500 (GRCm39) E348G probably benign Het
Pfkfb1 T C X: 149,405,138 (GRCm39) F170L probably damaging Het
Pou3f3 A G 1: 42,737,686 (GRCm39) M461V probably benign Het
Ppfia2 G A 10: 106,693,360 (GRCm39) D622N probably damaging Het
Prtg T G 9: 72,799,606 (GRCm39) S801R probably damaging Het
Rars2 T A 4: 34,623,404 (GRCm39) probably benign Het
Rasal1 A G 5: 120,790,917 (GRCm39) D35G probably damaging Het
Repin1 T A 6: 48,574,055 (GRCm39) L272Q probably damaging Het
Spmip5 C A 19: 58,777,684 (GRCm39) R34L possibly damaging Het
Stk36 T C 1: 74,655,728 (GRCm39) probably benign Het
Tbxa2r A G 10: 81,170,320 (GRCm39) T269A probably benign Het
Tmem132c G A 5: 127,640,466 (GRCm39) R879Q probably benign Het
Vmn1r78 C A 7: 11,886,407 (GRCm39) A6E probably benign Het
Vps45 A T 3: 95,941,133 (GRCm39) N369K probably benign Het
Vps45 T C 3: 95,926,958 (GRCm39) I530V probably benign Het
Zkscan16 G A 4: 58,956,911 (GRCm39) G398R probably damaging Het
Other mutations in Alcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Alcam APN 16 52,115,380 (GRCm39) splice site probably benign
IGL00737:Alcam APN 16 52,073,543 (GRCm39) missense unknown
IGL01514:Alcam APN 16 52,094,653 (GRCm39) splice site probably benign
IGL01837:Alcam APN 16 52,073,531 (GRCm39) missense probably benign 0.10
IGL02231:Alcam APN 16 52,094,413 (GRCm39) splice site probably benign
IGL02375:Alcam APN 16 52,109,299 (GRCm39) missense probably benign 0.00
IGL02579:Alcam APN 16 52,091,135 (GRCm39) missense probably damaging 1.00
IGL02678:Alcam APN 16 52,094,401 (GRCm39) missense probably damaging 1.00
IGL02798:Alcam APN 16 52,126,002 (GRCm39) missense probably damaging 1.00
IGL02974:Alcam APN 16 52,116,079 (GRCm39) missense probably benign 0.05
IGL03335:Alcam APN 16 52,111,366 (GRCm39) nonsense probably null
PIT4402001:Alcam UTSW 16 52,115,497 (GRCm39) missense probably damaging 1.00
PIT4651001:Alcam UTSW 16 52,115,550 (GRCm39) missense probably benign
R0282:Alcam UTSW 16 52,116,104 (GRCm39) missense probably damaging 0.99
R0395:Alcam UTSW 16 52,130,227 (GRCm39) missense probably benign 0.42
R0760:Alcam UTSW 16 52,116,035 (GRCm39) missense probably benign 0.32
R0882:Alcam UTSW 16 52,073,573 (GRCm39) missense possibly damaging 0.47
R1433:Alcam UTSW 16 52,116,115 (GRCm39) critical splice acceptor site probably null
R1677:Alcam UTSW 16 52,091,136 (GRCm39) missense probably damaging 1.00
R1751:Alcam UTSW 16 52,091,077 (GRCm39) missense probably damaging 1.00
R1767:Alcam UTSW 16 52,091,077 (GRCm39) missense probably damaging 1.00
R2440:Alcam UTSW 16 52,125,976 (GRCm39) missense probably damaging 1.00
R2963:Alcam UTSW 16 52,115,404 (GRCm39) missense probably benign 0.00
R3410:Alcam UTSW 16 52,130,261 (GRCm39) missense probably null 0.03
R4327:Alcam UTSW 16 52,073,579 (GRCm39) missense possibly damaging 0.62
R4328:Alcam UTSW 16 52,073,579 (GRCm39) missense possibly damaging 0.62
R4888:Alcam UTSW 16 52,089,176 (GRCm39) missense probably benign 0.03
R5088:Alcam UTSW 16 52,109,290 (GRCm39) missense probably damaging 1.00
R5202:Alcam UTSW 16 52,094,599 (GRCm39) missense probably damaging 1.00
R5208:Alcam UTSW 16 52,115,411 (GRCm39) nonsense probably null
R5278:Alcam UTSW 16 52,094,638 (GRCm39) missense probably benign
R5799:Alcam UTSW 16 52,130,212 (GRCm39) missense probably benign 0.28
R5909:Alcam UTSW 16 52,111,356 (GRCm39) missense probably benign
R5960:Alcam UTSW 16 52,115,489 (GRCm39) missense probably benign 0.30
R6194:Alcam UTSW 16 52,088,761 (GRCm39) missense probably damaging 1.00
R6434:Alcam UTSW 16 52,109,190 (GRCm39) splice site probably null
R6831:Alcam UTSW 16 52,130,264 (GRCm39) missense probably benign 0.00
R6868:Alcam UTSW 16 52,088,748 (GRCm39) missense probably damaging 1.00
R6930:Alcam UTSW 16 52,126,018 (GRCm39) missense probably benign 0.14
R6957:Alcam UTSW 16 52,097,257 (GRCm39) missense probably damaging 1.00
R7109:Alcam UTSW 16 52,097,192 (GRCm39) missense probably damaging 0.98
R7473:Alcam UTSW 16 52,272,882 (GRCm39) unclassified probably benign
R7562:Alcam UTSW 16 52,089,186 (GRCm39) missense probably benign 0.00
R7568:Alcam UTSW 16 52,088,749 (GRCm39) missense probably damaging 1.00
R7631:Alcam UTSW 16 52,109,276 (GRCm39) splice site probably null
R8362:Alcam UTSW 16 52,115,387 (GRCm39) missense probably damaging 0.99
R8996:Alcam UTSW 16 52,126,114 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16