Mutagenetix > Incidental Mutation

Incidental Mutation 'R8032:Icam5'

618031

Institutional Source

Beutler Lab

Gene Symbol

Icam5

Ensembl Gene

ENSMUSG00000032174

Gene Name

intercellular adhesion molecule 5, telencephalin

Synonyms

Tlcn, TLN, CD50, Icam3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20943372-20950331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20944514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 72 (R72S)

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: R72S

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: R72S

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

probably benign
Transcript: ENSMUST00000215077

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	A	4: 154,751,955 (GRCm39)	E60D	probably benign	Het
Adamts12	T	C	15: 11,259,189 (GRCm39)		probably null	Het
Ak9	T	A	10: 41,300,616 (GRCm39)	C1609S	unknown	Het
Aox1	A	T	1: 58,389,442 (GRCm39)	Y1147F	probably benign	Het
Atf7ip	T	C	6: 136,542,110 (GRCm39)	F615L	probably benign	Het
BC005624	A	G	2: 30,865,901 (GRCm39)		probably null	Het
BC024063	T	A	10: 81,943,738 (GRCm39)	M33K	probably benign	Het
Bmpr2	T	A	1: 59,906,502 (GRCm39)	S532T	probably benign	Het
Cast	G	A	13: 74,883,360 (GRCm39)	Q292*	probably null	Het
Ccdc7a	G	T	8: 129,551,864 (GRCm39)	H1249N	unknown	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Col15a1	T	C	4: 47,288,108 (GRCm39)	I4T	unknown	Het
Cyp2c39	A	G	19: 39,499,426 (GRCm39)	I38V	probably benign	Het
Dmpk	A	G	7: 18,821,978 (GRCm39)	D312G	possibly damaging	Het
Dnah1	T	C	14: 30,993,505 (GRCm39)	D2892G	probably damaging	Het
Dnah10	G	A	5: 124,823,676 (GRCm39)	D566N	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd2	T	A	12: 80,536,427 (GRCm39)	D352E	probably benign	Het
Fgf8	A	T	19: 45,725,676 (GRCm39)	L187Q	probably damaging	Het
Frrs1	A	G	3: 116,672,009 (GRCm39)	I36V	probably benign	Het
Gga2	A	T	7: 121,620,210 (GRCm39)		probably null	Het
Gigyf2	C	G	1: 87,334,735 (GRCm39)	H249D	unknown	Het
Gli2	A	T	1: 118,763,900 (GRCm39)	M1417K	probably damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Gm49380	A	T	9: 44,023,000 (GRCm39)	I416N	probably damaging	Het
Gpr137	T	C	19: 6,919,480 (GRCm39)	T16A	unknown	Het
Grid1	T	A	14: 35,045,316 (GRCm39)	D386E	probably benign	Het
Grm3	A	G	5: 9,562,272 (GRCm39)	V526A	probably benign	Het
Havcr2	A	T	11: 46,370,118 (GRCm39)	I231F	probably damaging	Het
Ighv9-2	T	A	12: 114,072,764 (GRCm39)	I70L	possibly damaging	Het
Inpp5e	C	T	2: 26,286,865 (GRCm39)	S119N		Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kash5	TCAGGC	TCAGGCACAGGC	7: 44,837,630 (GRCm39)		probably benign	Het
Kxd1	T	A	8: 70,966,791 (GRCm39)	D110V	possibly damaging	Het
Mbd4	A	G	6: 115,821,594 (GRCm39)	S474P	probably damaging	Het
Meaf6	C	A	4: 124,996,795 (GRCm39)	H168Q	unknown	Het
Nek2	T	C	1: 191,558,457 (GRCm39)	L254S	probably damaging	Het
Nhej1	T	C	1: 75,007,959 (GRCm39)	D104G	probably benign	Het
Nmnat3	A	G	9: 98,292,271 (GRCm39)	E172G	probably benign	Het
Npm3	A	T	19: 45,736,682 (GRCm39)	D152E	probably benign	Het
Nsd1	A	T	13: 55,458,196 (GRCm39)	K2103M	probably damaging	Het
Ntrk3	C	T	7: 78,005,807 (GRCm39)	R518H	probably damaging	Het
Nup210	T	A	6: 91,051,331 (GRCm39)	T351S	probably benign	Het
Or10h5	T	A	17: 33,434,924 (GRCm39)	R131S	possibly damaging	Het
Or9g19	A	G	2: 85,600,210 (GRCm39)	I22V	probably benign	Het
Otof	T	A	5: 30,619,142 (GRCm39)	M1L	probably benign	Het
Pacs2	T	A	12: 113,025,278 (GRCm39)	Y477N	probably damaging	Het
Panx3	A	G	9: 37,572,966 (GRCm39)	Y195H	probably damaging	Het
Pcsk5	T	C	19: 17,692,151 (GRCm39)	R178G	probably damaging	Het
Pde7a	A	G	3: 19,314,429 (GRCm39)	S56P	possibly damaging	Het
Prcp	T	G	7: 92,577,906 (GRCm39)	C392G	probably damaging	Het
Prkdc	A	G	16: 15,597,315 (GRCm39)	K2825R	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rbl1	A	T	2: 157,029,918 (GRCm39)	Y468*	probably null	Het
Rbmxl2	A	G	7: 106,809,429 (GRCm39)	Y238C	probably damaging	Het
Scgb2b20	A	T	7: 33,065,724 (GRCm39)	M1K	probably null	Het
Slc25a18	G	A	6: 120,769,452 (GRCm39)	G237D	probably damaging	Het
Slc9a3	G	A	13: 74,305,763 (GRCm39)	G260D	probably damaging	Het
Sorcs1	A	T	19: 50,463,846 (GRCm39)	S201R	probably benign	Het
Strip1	A	C	3: 107,525,394 (GRCm39)	D547E	probably damaging	Het
Thsd7a	C	T	6: 12,555,287 (GRCm39)	C199Y		Het
Top1mt	A	G	15: 75,540,572 (GRCm39)	V233A	probably damaging	Het
Tpp2	C	G	1: 44,014,628 (GRCm39)	P656A	possibly damaging	Het
Ttc1	A	T	11: 43,628,806 (GRCm39)	L193Q	probably damaging	Het
Ttll4	T	A	1: 74,735,632 (GRCm39)	D1013E	possibly damaging	Het
Unc5a	T	C	13: 55,144,299 (GRCm39)	V208A	possibly damaging	Het
Vmn1r185	C	A	7: 26,310,558 (GRCm39)	V316F	probably benign	Het
Vmn2r112	T	A	17: 22,822,375 (GRCm39)	V351E	probably benign	Het
Wdfy4	T	A	14: 32,751,043 (GRCm39)	K2391*	probably null	Het
Zfhx3	T	C	8: 109,677,854 (GRCm39)	V2968A	possibly damaging	Het
Zfp551	G	A	7: 12,152,487 (GRCm39)	A82V	possibly 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
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
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'- GATTTCAGAGATGGGGTCCC -3'
(R):5'- GTAGTGCTCTCAGGACAAGC -3'

Sequencing Primer
(F):5'- TTCAGAGATGGGGTCCCTAGGC -3'
(R):5'- AGCTTTAGGGGGAGGTCCAG -3'

Posted On

2020-01-23