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, Icam3, CD50

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

21032073-21039036 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21032197 bp (GRCm38)

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: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in Icam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Icam5	APN	9	21036795	critical splice donor site	probably null
IGL00972:Icam5	APN	9	21034697	missense	probably damaging	0.99
IGL01690:Icam5	APN	9	21034799	missense	possibly damaging	0.69
IGL02334:Icam5	APN	9	21035209	missense	possibly damaging	0.92
IGL03387:Icam5	APN	9	21033801	missense	probably benign	0.10
H8562:Icam5	UTSW	9	21035146	missense	probably benign	0.04
R0002:Icam5	UTSW	9	21033505	missense	probably benign	0.00
R0594:Icam5	UTSW	9	21035598	missense	probably benign	0.11
R1485:Icam5	UTSW	9	21036406	missense	probably benign	0.34
R1773:Icam5	UTSW	9	21033525	missense	possibly damaging	0.67
R1934:Icam5	UTSW	9	21034786	missense	probably benign	0.32
R3125:Icam5	UTSW	9	21036658	missense	probably benign	0.00
R4117:Icam5	UTSW	9	21037590	missense	probably damaging	0.99
R4132:Icam5	UTSW	9	21036657	missense	probably benign
R4250:Icam5	UTSW	9	21037739	missense	probably damaging	0.98
R4470:Icam5	UTSW	9	21035506	nonsense	probably null
R4471:Icam5	UTSW	9	21035506	nonsense	probably null
R4826:Icam5	UTSW	9	21037803	missense	possibly damaging	0.67
R5182:Icam5	UTSW	9	21034810	missense	probably benign
R5586:Icam5	UTSW	9	21034820	missense	probably damaging	0.98
R6200:Icam5	UTSW	9	21038749	missense	probably damaging	1.00
R6240:Icam5	UTSW	9	21033158	missense	possibly damaging	0.80
R6291:Icam5	UTSW	9	21036921	missense	probably benign	0.07
R7229:Icam5	UTSW	9	21037001	missense	possibly damaging	0.79
R7395:Icam5	UTSW	9	21035442	missense	possibly damaging	0.77
R7414:Icam5	UTSW	9	21037593	missense	probably damaging	0.98
R7423:Icam5	UTSW	9	21036905	missense	probably benign
R7961:Icam5	UTSW	9	21038755	missense	possibly damaging	0.85
R8032:Icam5	UTSW	9	21033218	missense	probably benign	0.35
R8286:Icam5	UTSW	9	21035526	missense	possibly damaging	0.71
R8899:Icam5	UTSW	9	21037119	missense	possibly damaging	0.85
R9185:Icam5	UTSW	9	21038869	missense	probably damaging	0.96
R9300:Icam5	UTSW	9	21035550	missense	probably benign	0.09
R9348:Icam5	UTSW	9	21032131	start codon destroyed	probably null	0.68
R9481:Icam5	UTSW	9	21037581	missense	probably damaging	1.00
Z1177:Icam5	UTSW	9	21035548	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