Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Icam5'

196823

Institutional Source

Beutler Lab

Gene Symbol

Icam5

Ensembl Gene

ENSMUSG00000032174

Gene Name

intercellular adhesion molecule 5, telencephalin

Synonyms

Tlcn, TLN, CD50, Icam3

MMRRC Submission

039804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20943372-20950331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20944821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 128 (L128P)

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

possibly damaging
Transcript: ENSMUST00000019616
AA Change: L128P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: L128P

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Afg2a	T	C	3: 37,493,334 (GRCm39)	F515L	probably damaging	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,401,195 (GRCm39)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,571,593 (GRCm39)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,512 (GRCm39)	G196D	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,803,865 (GRCm39)		probably null	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	probably damaging	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
R0605:Icam5	UTSW	9	20,943,493 (GRCm39)	missense	probably benign	0.23
R1485:Icam5	UTSW	9	20,947,702 (GRCm39)	missense	probably benign	0.34
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'- CCGAACTTTCCGTGAGTACAGTGTG -3'
(R):5'- CTCGGCGAGGCATGAGAAATTGAC -3'

Sequencing Primer
(F):5'- AGTACAGTGTGGACACGCC -3'
(R):5'- AGAAATTGACCCTGTGGTCC -3'

Posted On

2014-05-23