Mutagenetix > Incidental Mutation

Incidental Mutation 'R2963:Alcam'

255947

Institutional Source

Beutler Lab

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 #

R2963 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52069359-52273444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52115404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 238 (E238G)

Ref Sequence

ENSEMBL: ENSMUSP00000023312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023312] [ENSMUST00000164728] [ENSMUST00000170035]

AlphaFold

Q61490

Predicted Effect

probably benign
Transcript: ENSMUST00000023312
AA Change: E238G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: E238G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000164728
AA Change: E238G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: E238G

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000167115
AA Change: E86G

SMART Domains

Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: E86G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000170035
AA Change: E238G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: E238G

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Capn13	C	T	17: 73,622,258 (GRCm39)		probably null	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cyfip1	T	C	7: 55,544,783 (GRCm39)	F472L	probably damaging	Het
Cyp2t4	T	C	7: 26,854,699 (GRCm39)	S60P	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or4f62	T	A	2: 111,986,804 (GRCm39)	C169*	probably null	Het
Ptpn18	C	T	1: 34,510,773 (GRCm39)	Q246*	probably null	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Alcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCAGGAAATGGAGTCTATTCTTAAGTC -3'
(R):5'- CTTTACTTTCTTTAGAGGTGGCCATAC -3'

Sequencing Primer
(F):5'- GGAGTCTATTCTTAAGTCATGAGCAG -3'
(R):5'- GTATACCGTGACTTCCTCCT -3'

Posted On

2014-12-29