Mutagenetix > Incidental Mutations

Incidental Mutation 'R5202:Alcam'

400941

Institutional Source

Beutler Lab

Gene Symbol

Alcam

Ensembl Gene

ENSMUSG00000022636

Gene Name

activated leukocyte cell adhesion molecule

Synonyms

SC1, BEN, MuSC, DM-GRASP, CD166

MMRRC Submission

042777-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R5202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52248996-52454074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52274236 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 384 (Y384C)

Ref Sequence

ENSEMBL: ENSMUSP00000129714 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023312
AA Change: Y384C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: Y384C

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 damaging
Transcript: ENSMUST00000164728
AA Change: Y384C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: Y384C

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

noncoding transcript
Transcript: ENSMUST00000164888

Predicted Effect

unknown
Transcript: ENSMUST00000167115
AA Change: Y145C

SMART Domains

Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: Y145C

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 damaging
Transcript: ENSMUST00000170035
AA Change: Y384C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: Y384C

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: 97.1%
20x: 94.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,731,964	M312L	probably benign	Het
Adam7	C	A	14: 68,507,856	D640Y	possibly damaging	Het
Apob	A	G	12: 8,013,737	E289G	probably damaging	Het
Arhgap15	A	T	2: 44,063,857	R198S	probably benign	Het
Bbs2	G	T	8: 94,092,414	S109*	probably null	Het
Bfsp1	T	C	2: 143,826,971	S569G	probably benign	Het
Chst9	A	T	18: 15,453,239	I89N	probably benign	Het
Cntln	A	C	4: 84,971,229	E316D	probably benign	Het
Csde1	T	G	3: 103,039,934	D67E	probably damaging	Het
Csf2rb	T	G	15: 78,349,057	S855A	possibly damaging	Het
Cyp4a10	T	A	4: 115,532,615	D472E	probably damaging	Het
Cyp4f18	C	A	8: 72,009,096	R49L	probably benign	Het
Daam1	G	T	12: 71,944,274	V221L	unknown	Het
Dbr1	T	G	9: 99,583,891	D507E	probably benign	Het
Dhrs7c	A	G	11: 67,815,801	M188V	probably benign	Het
Dicer1	A	T	12: 104,694,731	L1688*	probably null	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
E2f3	G	A	13: 29,918,636	T91I	probably damaging	Het
Etaa1	A	T	11: 17,947,853	V157E	probably damaging	Het
Foxp2	A	T	6: 15,394,771	T157S	probably benign	Het
Frem2	A	G	3: 53,551,346	V2034A	probably benign	Het
Fzd10	T	C	5: 128,602,116	V300A	possibly damaging	Het
Gbf1	A	T	19: 46,268,454	M778L	probably benign	Het
Gm17472	T	A	6: 42,981,134	N112K	probably benign	Het
Gria4	T	C	9: 4,424,330	K845R	probably benign	Het
Hspa4l	T	A	3: 40,781,569	S541T	probably benign	Het
Igkv4-68	G	A	6: 69,304,942	R82C	probably damaging	Het
Itgb1	A	T	8: 128,720,010	I383F	probably damaging	Het
Kcnk12	T	A	17: 87,746,605	K210*	probably null	Het
Limch1	C	G	5: 66,993,173	D163E	probably damaging	Het
Mbd4	A	T	6: 115,849,402	D188E	probably damaging	Het
Myh9	C	T	15: 77,781,110		probably null	Het
Nbeal2	T	C	9: 110,644,666	E28G	probably damaging	Het
Nfatc4	A	G	14: 55,826,659	E201G	probably damaging	Het
Nrap	G	A	19: 56,335,151	H1330Y	probably damaging	Het
Nudt14	A	G	12: 112,935,028	S151P	probably damaging	Het
Olfr297	C	A	7: 86,527,116	R120S	probably damaging	Het
Olfr58	T	A	9: 19,783,218	F28L	possibly damaging	Het
Olfr706	T	A	7: 106,886,596	T74S	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Paqr9	A	G	9: 95,560,110	D51G	probably damaging	Het
Pcgf5	T	A	19: 36,437,183	F80I	probably damaging	Het
Pkhd1	T	G	1: 20,547,341	S1007R	probably benign	Het
Rab30	T	C	7: 92,835,913	Y196H	probably benign	Het
Setd2	A	T	9: 110,551,230	D1371V	probably damaging	Het
Slc48a1	A	T	15: 97,790,700	I140F	possibly damaging	Het
Sorl1	A	G	9: 42,033,583	V882A	probably benign	Het
Sptbn2	G	T	19: 4,724,184	G88W	probably damaging	Het
Tdrd12	A	G	7: 35,490,030	V427A	possibly damaging	Het
Tekt2	T	C	4: 126,324,670	D69G	probably benign	Het
Tie1	C	T	4: 118,480,510	V463I	probably benign	Het
Tmem150c	G	T	5: 100,079,954	H217N	probably damaging	Het
Tnks2	G	A	19: 36,888,852	G1080R	probably damaging	Het
Ttll4	G	A	1: 74,687,852		probably null	Het

Other mutations in Alcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Alcam	APN	16	52295017	splice site	probably benign
IGL00737:Alcam	APN	16	52253180	missense	unknown
IGL01514:Alcam	APN	16	52274290	splice site	probably benign
IGL01837:Alcam	APN	16	52253168	missense	probably benign	0.10
IGL02143:Alcam	APN	16	52305619	missense	probably damaging	0.99
IGL02231:Alcam	APN	16	52274050	splice site	probably benign
IGL02375:Alcam	APN	16	52288936	missense	probably benign	0.00
IGL02579:Alcam	APN	16	52270772	missense	probably damaging	1.00
IGL02678:Alcam	APN	16	52274038	missense	probably damaging	1.00
IGL02798:Alcam	APN	16	52305639	missense	probably damaging	1.00
IGL02974:Alcam	APN	16	52295716	missense	probably benign	0.05
IGL03335:Alcam	APN	16	52291003	nonsense	probably null
PIT4402001:Alcam	UTSW	16	52295134	missense	probably damaging	1.00
PIT4651001:Alcam	UTSW	16	52295187	missense	probably benign
R0282:Alcam	UTSW	16	52295741	missense	probably damaging	0.99
R0395:Alcam	UTSW	16	52309864	missense	probably benign	0.42
R0760:Alcam	UTSW	16	52295672	missense	probably benign	0.32
R0882:Alcam	UTSW	16	52253210	missense	possibly damaging	0.47
R1433:Alcam	UTSW	16	52295752	critical splice acceptor site	probably null
R1677:Alcam	UTSW	16	52270773	missense	probably damaging	1.00
R1751:Alcam	UTSW	16	52270714	missense	probably damaging	1.00
R1767:Alcam	UTSW	16	52270714	missense	probably damaging	1.00
R2440:Alcam	UTSW	16	52305613	missense	probably damaging	1.00
R2963:Alcam	UTSW	16	52295041	missense	probably benign	0.00
R3410:Alcam	UTSW	16	52309898	missense	probably null	0.03
R4327:Alcam	UTSW	16	52253216	missense	possibly damaging	0.62
R4328:Alcam	UTSW	16	52253216	missense	possibly damaging	0.62
R4888:Alcam	UTSW	16	52268813	missense	probably benign	0.03
R5088:Alcam	UTSW	16	52288927	missense	probably damaging	1.00
R5208:Alcam	UTSW	16	52295048	nonsense	probably null
R5278:Alcam	UTSW	16	52274275	missense	probably benign
R5799:Alcam	UTSW	16	52309849	missense	probably benign	0.28
R5909:Alcam	UTSW	16	52290993	missense	probably benign
R5960:Alcam	UTSW	16	52295126	missense	probably benign	0.30
R6194:Alcam	UTSW	16	52268398	missense	probably damaging	1.00
R6434:Alcam	UTSW	16	52288827	intron	probably null
R6831:Alcam	UTSW	16	52309901	missense	probably benign	0.00
R6868:Alcam	UTSW	16	52268385	missense	probably damaging	1.00
R6930:Alcam	UTSW	16	52305655	missense	probably benign	0.14
R6957:Alcam	UTSW	16	52276894	missense	probably damaging	1.00
R7109:Alcam	UTSW	16	52276829	missense	probably damaging	0.98
R7473:Alcam	UTSW	16	52452519	unclassified	probably benign
R7562:Alcam	UTSW	16	52268823	missense	probably benign	0.00
R7568:Alcam	UTSW	16	52268386	missense	probably damaging	1.00
R7631:Alcam	UTSW	16	52288913	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CGTGGCAGATTATAGTTTTAGACAG -3'
(R):5'- TAGGCGCATGTACCACACAC -3'

Sequencing Primer
(F):5'- GCAGATTATAGTTTTAGACAGTCCAC -3'
(R):5'- TAGGCGCATGTACCACACACATATAC -3'

Posted On

2016-07-06