Incidental Mutation 'R1433:Alcam'
ID 159344
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 039488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 52069359-52273444 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 52116115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023312] [ENSMUST00000164728] [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: 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: 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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R 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
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
Predicted Primers PCR Primer
(F):5'- GAATCCTGGAATCCCATCTCCCACT -3'
(R):5'- ACTGAGGACTATCGAATGTGGCAAGTA -3'

Sequencing Primer
(F):5'- TTGCCCAATAAGTTAAAGGGCAC -3'
(R):5'- TGGAGAGGTGCCACATTTTAAC -3'
Posted On 2014-03-14