Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Alcam'

402180

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

042783-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52248996-52454074 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 52295048 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 236 (E236*)

Ref Sequence

ENSEMBL: ENSMUSP00000129714 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000023312
AA Change: E236*

SMART Domains

Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: E236*

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 null
Transcript: ENSMUST00000164728
AA Change: E236*

SMART Domains

Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: E236*

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

probably null
Transcript: ENSMUST00000167115
AA Change: E84*

SMART Domains

Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: E84*

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 null
Transcript: ENSMUST00000170035
AA Change: E236*

SMART Domains

Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: E236*

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
Bbs12	T	C	3: 37,320,273	I290T	probably benign	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Bmp6	G	A	13: 38,469,697	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tars2	A	G	3: 95,747,593	W128R	probably damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem129	A	T	5: 33,655,506	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	probably benign	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
R5202:Alcam	UTSW	16	52274236	missense	probably damaging	1.00
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	splice site	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
R8362:Alcam	UTSW	16	52295024	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGGAAATGGAGTCTATTCTTAAGTC -3'
(R):5'- TACTTTCTTTAGAGGTGGCCATAC -3'

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

Posted On

2016-07-22