Incidental Mutation 'R7631:Alcam'
ID 628218
Institutional Source Beutler Lab
Gene Symbol Alcam
Ensembl Gene ENSMUSG00000022636
Gene Name activated leukocyte cell adhesion molecule
Synonyms MuSC, SC1, BEN, CD166, DM-GRASP
MMRRC Submission 045692-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R7631 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 52069359-52273444 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 52109276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023312] [ENSMUST00000023312] [ENSMUST00000023312] [ENSMUST00000164728] [ENSMUST00000164728] [ENSMUST00000164728] [ENSMUST00000170035] [ENSMUST00000170035] [ENSMUST00000170035]
AlphaFold Q61490
Predicted Effect probably null
Transcript: ENSMUST00000023312
SMART Domains Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636

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 probably null
Transcript: ENSMUST00000023312
SMART Domains Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636

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 probably null
Transcript: ENSMUST00000023312
SMART Domains Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636

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 probably null
Transcript: ENSMUST00000164728
SMART Domains Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636

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 null
Transcript: ENSMUST00000164728
SMART Domains Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636

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 null
Transcript: ENSMUST00000164728
SMART Domains Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636

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 benign
Transcript: ENSMUST00000167115
SMART Domains Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636

DomainStartEndE-ValueType
Pfam:C2-set_2 1 80 3.6e-21 PFAM
IG 101 175 6.26e-5 SMART
Pfam:Ig_3 177 251 1.7e-6 PFAM
transmembrane domain 290 312 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170035
SMART Domains Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636

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
Predicted Effect probably null
Transcript: ENSMUST00000170035
SMART Domains Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636

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
Predicted Effect probably null
Transcript: ENSMUST00000170035
SMART Domains Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 87% (46/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,834,606 (GRCm39) L930H possibly damaging Het
Albfm1 T C 5: 90,727,531 (GRCm39) L383S probably damaging Het
Ankrd31 A G 13: 97,015,462 (GRCm39) H1577R probably benign Het
Arfgef1 T C 1: 10,302,694 (GRCm39) N9S probably benign Het
Cpne9 T C 6: 113,279,079 (GRCm39) V491A possibly damaging Het
Cyb5d1 A T 11: 69,285,865 (GRCm39) L57Q possibly damaging Het
Cyp7a1 T A 4: 6,272,763 (GRCm39) Q150L possibly damaging Het
D430041D05Rik A C 2: 103,979,363 (GRCm39) Y1336* probably null Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dchs1 T C 7: 105,408,445 (GRCm39) T1796A probably benign Het
Defa27 T A 8: 21,805,657 (GRCm39) D32E probably benign Het
Eno2 T C 6: 124,744,019 (GRCm39) E96G probably benign Het
Fbxw19 T A 9: 109,311,069 (GRCm39) Y380F probably damaging Het
Fer1l4 A T 2: 155,890,195 (GRCm39) N243K probably damaging Het
Fndc7 G A 3: 108,776,568 (GRCm39) A491V probably damaging Het
Gm14305 A G 2: 176,410,790 (GRCm39) Q15R probably benign Het
Gpr155 T C 2: 73,213,291 (GRCm39) probably benign Het
Grm5 A G 7: 87,624,513 (GRCm39) H360R probably damaging Het
Ifi203 G A 1: 173,754,688 (GRCm39) T681I unknown Het
Klc2 A G 19: 5,158,647 (GRCm39) S616P probably benign Het
Lifr A G 15: 7,214,258 (GRCm39) Y704C probably damaging Het
Lingo4 A C 3: 94,306,767 (GRCm39) D15A possibly damaging Het
Lrrc74a A T 12: 86,795,884 (GRCm39) N286Y probably damaging Het
Mcm8 A G 2: 132,669,963 (GRCm39) T374A not run Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa25 A G 5: 121,576,791 (GRCm39) T847A possibly damaging Het
Nrxn2 T A 19: 6,531,825 (GRCm39) M763K possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or1p4-ps1 A C 11: 74,208,357 (GRCm39) T169P unknown Het
Or2r3 T A 6: 42,448,870 (GRCm39) M81L probably benign Het
Or5m11 A T 2: 85,782,218 (GRCm39) E270D probably benign Het
Or8c13 A T 9: 38,092,002 (GRCm39) V39E probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Pabpc4 T G 4: 123,182,763 (GRCm39) D133E probably damaging Het
Pcsk5 A T 19: 17,542,144 (GRCm39) C816S probably damaging Het
Pgm2 A G 5: 64,265,522 (GRCm39) T408A possibly damaging Het
Polr2m G C 9: 71,390,757 (GRCm39) Y148* probably null Het
Reln T C 5: 22,176,933 (GRCm39) N1911S probably damaging Het
Scaf4 T C 16: 90,026,445 (GRCm39) D1124G unknown Het
Scgb1b19 C T 7: 32,986,784 (GRCm39) T18I probably damaging Het
Septin12 T A 16: 4,814,320 (GRCm39) I50F probably damaging Het
Slc25a20 T A 9: 108,539,491 (GRCm39) M22K probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smchd1 A G 17: 71,705,684 (GRCm39) F972L probably benign Het
Spem1 T C 11: 69,712,409 (GRCm39) Y85C probably benign Het
Strip1 C T 3: 107,524,247 (GRCm39) V557I possibly damaging Het
Tcirg1 G T 19: 3,947,160 (GRCm39) Q634K probably damaging Het
Tma7 T A 9: 108,911,507 (GRCm39) probably benign Het
Tmem204 A G 17: 25,299,414 (GRCm39) L35P probably damaging Het
Trpc6 A G 9: 8,626,702 (GRCm39) T351A probably benign Het
Tubb2a A G 13: 34,259,227 (GRCm39) S188P probably damaging Het
Ubr5 C A 15: 38,029,751 (GRCm39) L485F Het
Vmn1r71 A T 7: 10,482,378 (GRCm39) S103R probably damaging Het
Vmn2r40 C T 7: 8,911,119 (GRCm39) D725N Het
Zfp473 T C 7: 44,383,128 (GRCm39) R402G possibly damaging Het
Zfp82 A T 7: 29,755,851 (GRCm39) S410R 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
IGL02143:Alcam APN 16 52,125,982 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCAAGGATTCTGTACCACAATGG -3'
(R):5'- TTGTAGCTACCAAGTGTAACCATC -3'

Sequencing Primer
(F):5'- GGTTACCTGCATGAAAGTTCAG -3'
(R):5'- CTGACATTTTTCCTCTGTCTAAAGGG -3'
Posted On 2020-02-11