Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Icam5'

55652

Institutional Source

Beutler Lab

Gene Symbol

Icam5

Ensembl Gene

ENSMUSG00000032174

Gene Name

intercellular adhesion molecule 5, telencephalin

Synonyms

Tlcn, TLN, CD50, Icam3

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0605 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

20943372-20950331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20943493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 23 (I23T)

Ref Sequence

ENSEMBL: ENSMUSP00000019616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001040] [ENSMUST00000019616] [ENSMUST00000086399] [ENSMUST00000215077]

AlphaFold

Q60625

Predicted Effect

probably benign
Transcript: ENSMUST00000001040

SMART Domains

Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ICAM_N	37	128	2.5e-17	PFAM
Blast:IG_like	133	224	1e-9	BLAST
transmembrane domain	232	254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019616
AA Change: I23T

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: I23T

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
Pfam:ICAM_N	32	122	1.5e-17	PFAM
Pfam:Ig_3	121	202	5.6e-4	PFAM
low complexity region	284	292	N/A	INTRINSIC
IG_like	329	405	1.45e1	SMART
IG	416	488	1.72e-2	SMART
IG	499	569	5.84e-5	SMART
IG_like	580	662	3.57e1	SMART
IG	673	742	3.49e-3	SMART
IGc2	758	819	1.97e-11	SMART
transmembrane domain	833	855	N/A	INTRINSIC
low complexity region	884	902	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086399

SMART Domains

Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
IG_like	33	109	5.91e1	SMART
IG_like	119	208	1.15e2	SMART
IG	319	396	1.49e-2	SMART
IG	407	479	3.91e-6	SMART
transmembrane domain	486	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180870

Predicted Effect

probably benign
Transcript: ENSMUST00000215077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216917

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Foxred1	T	C	9: 35,116,178 (GRCm39)	Y490C	possibly damaging	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or5ae2	T	C	7: 84,506,345 (GRCm39)	I256T	probably damaging	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Osbpl1a	T	A	18: 13,015,336 (GRCm39)		probably null	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	Het

Other mutations in Icam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Icam5	APN	9	20,948,091 (GRCm39)	critical splice donor site	probably null
IGL00972:Icam5	APN	9	20,945,993 (GRCm39)	missense	probably damaging	0.99
IGL01690:Icam5	APN	9	20,946,095 (GRCm39)	missense	possibly damaging	0.69
IGL02334:Icam5	APN	9	20,946,505 (GRCm39)	missense	possibly damaging	0.92
IGL03387:Icam5	APN	9	20,945,097 (GRCm39)	missense	probably benign	0.10
H8562:Icam5	UTSW	9	20,946,442 (GRCm39)	missense	probably benign	0.04
R0002:Icam5	UTSW	9	20,944,801 (GRCm39)	missense	probably benign	0.00
R0594:Icam5	UTSW	9	20,946,894 (GRCm39)	missense	probably benign	0.11
R1485:Icam5	UTSW	9	20,947,702 (GRCm39)	missense	probably benign	0.34
R1773:Icam5	UTSW	9	20,944,821 (GRCm39)	missense	possibly damaging	0.67
R1934:Icam5	UTSW	9	20,946,082 (GRCm39)	missense	probably benign	0.32
R3125:Icam5	UTSW	9	20,947,954 (GRCm39)	missense	probably benign	0.00
R4117:Icam5	UTSW	9	20,948,886 (GRCm39)	missense	probably damaging	0.99
R4132:Icam5	UTSW	9	20,947,953 (GRCm39)	missense	probably benign
R4250:Icam5	UTSW	9	20,949,035 (GRCm39)	missense	probably damaging	0.98
R4470:Icam5	UTSW	9	20,946,802 (GRCm39)	nonsense	probably null
R4471:Icam5	UTSW	9	20,946,802 (GRCm39)	nonsense	probably null
R4826:Icam5	UTSW	9	20,949,099 (GRCm39)	missense	possibly damaging	0.67
R5182:Icam5	UTSW	9	20,946,106 (GRCm39)	missense	probably benign
R5586:Icam5	UTSW	9	20,946,116 (GRCm39)	missense	probably damaging	0.98
R6200:Icam5	UTSW	9	20,950,045 (GRCm39)	missense	probably damaging	1.00
R6240:Icam5	UTSW	9	20,944,454 (GRCm39)	missense	possibly damaging	0.80
R6291:Icam5	UTSW	9	20,948,217 (GRCm39)	missense	probably benign	0.07
R7229:Icam5	UTSW	9	20,948,297 (GRCm39)	missense	possibly damaging	0.79
R7395:Icam5	UTSW	9	20,946,738 (GRCm39)	missense	possibly damaging	0.77
R7414:Icam5	UTSW	9	20,948,889 (GRCm39)	missense	probably damaging	0.98
R7423:Icam5	UTSW	9	20,948,201 (GRCm39)	missense	probably benign
R7961:Icam5	UTSW	9	20,950,051 (GRCm39)	missense	possibly damaging	0.85
R8032:Icam5	UTSW	9	20,944,514 (GRCm39)	missense	probably benign	0.35
R8286:Icam5	UTSW	9	20,946,822 (GRCm39)	missense	possibly damaging	0.71
R8899:Icam5	UTSW	9	20,948,415 (GRCm39)	missense	possibly damaging	0.85
R9185:Icam5	UTSW	9	20,950,165 (GRCm39)	missense	probably damaging	0.96
R9300:Icam5	UTSW	9	20,946,846 (GRCm39)	missense	probably benign	0.09
R9348:Icam5	UTSW	9	20,943,427 (GRCm39)	start codon destroyed	probably null	0.68
R9481:Icam5	UTSW	9	20,948,877 (GRCm39)	missense	probably damaging	1.00
Z1177:Icam5	UTSW	9	20,946,844 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AACCAATCCCTGGGCGCAATTCTG -3'
(R):5'- AGGTGCTGGGTTCCGATCTGAAAG -3'

Sequencing Primer
(F):5'- GGCGCAATTCTGCCACC -3'
(R):5'- ATCTGAAAGATCGAGGTGTGTTG -3'

Posted On

2013-07-11