Mutagenetix > Incidental Mutations

Incidental Mutation 'R7568:Alcam'

585604

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52248996-52454074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52268386 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 554 (S554P)

Ref Sequence

ENSEMBL: ENSMUSP00000023312 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023312
AA Change: S554P

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

SMART Domains

Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: S554P

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: S554P

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

SMART Domains

Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: S554P

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

SMART Domains

Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: S315P

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: S541P

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

SMART Domains

Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: S541P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	C	16: 38,828,447	E100G	possibly damaging	Het
Actbl2	T	A	13: 111,255,422	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498	T342S	probably damaging	Het
Ano3	T	C	2: 110,950,293		probably benign	Het
Atad2b	T	A	12: 5,010,390		probably null	Het
Baz2a	T	C	10: 128,125,270	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,888,151		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,888,172		probably benign	Het
Best1	T	A	19: 9,989,275		probably null	Het
Catip	G	T	1: 74,368,930	E474*	probably null	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crebbp	G	A	16: 4,126,489	R600W	probably benign	Het
Cyfip1	A	G	7: 55,872,249		probably null	Het
Ddr1	A	G	17: 35,684,282	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,922,087		probably null	Het
F2rl1	G	A	13: 95,514,014	A120V	probably damaging	Het
Fam136a	A	G	6: 86,365,802	N24D	probably benign	Het
Fbxw10	C	A	11: 62,875,168	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,439,589	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,916,292	K373E	probably benign	Het
Herc3	G	A	6: 58,843,810	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,736,493	K51*	probably null	Het
Krt23	T	A	11: 99,492,800	K89*	probably null	Het
Mavs	A	G	2: 131,245,475	T298A	probably benign	Het
Mlec	T	C	5: 115,150,122	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,589,801	N689K	probably benign	Het
Nfkbia	A	G	12: 55,491,761	I82T	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,605	I163V	probably benign	Het
Olfr1351	A	T	10: 79,017,507	I62F	probably benign	Het
Olfr527	A	G	7: 140,335,982	N40S	probably damaging	Het
Olfr902	A	G	9: 38,449,646	Y258C	probably damaging	Het
Pom121l2	A	T	13: 21,982,626	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,337,615	L719Q	probably damaging	Het
Satb1	A	T	17: 51,782,724	V365D	possibly damaging	Het
Scrn2	T	C	11: 97,030,886	Y61H	probably damaging	Het
Siglec1	C	T	2: 131,072,682	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,514,882	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,835,130	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,400,128		probably null	Het
Slc6a6	T	G	6: 91,724,851	L80R	probably damaging	Het
Slit1	T	C	19: 41,601,635	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,223,299	E419G	probably damaging	Het
Ssh1	T	C	5: 113,957,380		probably null	Het
Stab1	C	A	14: 31,152,595	C952F	probably damaging	Het
Stat5a	T	C	11: 100,875,024	M312T	possibly damaging	Het
Tex2	A	G	11: 106,548,736	I606T	unknown	Het
Vmn1r19	A	G	6: 57,404,828	H122R	possibly damaging	Het
Zfp959	A	G	17: 55,897,886	I308V	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
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	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
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'- TGGCCTTGGAACGTTGACTAAC -3'
(R):5'- TTCAACGCTTTAGCACTGGC -3'

Sequencing Primer
(F):5'- CAGGGCCACATTCTTGACGTTG -3'
(R):5'- GCTATAGCCGCATGGTCTTTTTC -3'

Posted On

2019-10-17