Mutagenetix > Incidental Mutation

Incidental Mutation 'R4092:Icam2'

317686

Institutional Source

Beutler Lab

Gene Symbol

Icam2

Ensembl Gene

ENSMUSG00000001029

Gene Name

intercellular adhesion molecule 2

Synonyms

Icam-2, CD102

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4092 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106268482-106278901 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to A at 106271623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001055] [ENSMUST00000009354] [ENSMUST00000106813] [ENSMUST00000106816] [ENSMUST00000141146] [ENSMUST00000185986] [ENSMUST00000190268] [ENSMUST00000190795] [ENSMUST00000188561]

AlphaFold

P35330

Predicted Effect

probably benign
Transcript: ENSMUST00000001055
AA Change: M66I

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001055
Gene: ENSMUSG00000001029
AA Change: M66I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	114	8.6e-45	PFAM
Blast:IG_like	119	215	2e-36	BLAST
transmembrane domain	224	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000009354

SMART Domains

Protein: ENSMUSP00000009354
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	1	60	9.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106809

Predicted Effect

probably benign
Transcript: ENSMUST00000106813
AA Change: M66I

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102426
Gene: ENSMUSG00000001029
AA Change: M66I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	114	2.8e-45	PFAM
Blast:IG_like	119	161	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106816

SMART Domains

Protein: ENSMUSP00000102429
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	110	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141146
AA Change: M102I

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118043
Gene: ENSMUSG00000001029
AA Change: M102I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ICAM_N	58	138	2.1e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173795
AA Change: M1I

SMART Domains

Protein: ENSMUSP00000133315
Gene: ENSMUSG00000001029
AA Change: M1I

Domain	Start	End	E-Value	Type
Pfam:ICAM_N	1	50	2.2e-21	PFAM
Blast:IG_like	55	151	2e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000185986

SMART Domains

Protein: ENSMUSP00000140365
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	32	103	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190268

SMART Domains

Protein: ENSMUSP00000139960
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	110	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190795

SMART Domains

Protein: ENSMUSP00000140541
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	1	60	9.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188561

SMART Domains

Protein: ENSMUSP00000140194
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	101	1.5e-18	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (53/53)

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 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in increased respiratory responsiveness due to an increased accumulation of eosinophils in the lung interstitium and a concomittant delay in the increase of eosinophils in the airway lumen during the development of an allergic inflammatory response. [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
2010315B03Rik	A	T	9: 124,055,903 (GRCm39)	H340Q	probably benign	Het
Adam22	A	T	5: 8,145,004 (GRCm39)	I116N	probably damaging	Het
Adamts2	T	A	11: 50,678,103 (GRCm39)	V794E	probably damaging	Het
Ak9	T	C	10: 41,265,140 (GRCm39)	S966P	probably benign	Het
Alox5	G	A	6: 116,389,635 (GRCm39)		probably benign	Het
Bmerb1	G	A	16: 13,867,346 (GRCm39)	R68H	probably damaging	Het
Brip1	C	T	11: 86,039,347 (GRCm39)	D396N	possibly damaging	Het
Catsper3	C	T	13: 55,932,484 (GRCm39)	H4Y	probably benign	Het
Cmtm2a	T	C	8: 105,019,403 (GRCm39)	Y62C	probably benign	Het
Crim1	T	C	17: 78,658,265 (GRCm39)	C715R	probably damaging	Het
Dio3	A	G	12: 110,246,234 (GRCm39)	D190G	possibly damaging	Het
Efl1	A	G	7: 82,412,035 (GRCm39)	E808G	probably benign	Het
Eif1ad16	A	T	12: 87,985,194 (GRCm39)	N116K	possibly damaging	Het
Fam83b	T	C	9: 76,398,943 (GRCm39)	D720G	probably benign	Het
Fbp2	C	T	13: 62,988,174 (GRCm39)	V246M	possibly damaging	Het
Gm10197	G	A	19: 53,360,196 (GRCm39)		probably benign	Het
Insyn2b	G	A	11: 34,351,935 (GRCm39)		probably benign	Het
Kit	T	C	5: 75,771,470 (GRCm39)	I209T	probably benign	Het
Lcmt1	T	C	7: 123,017,476 (GRCm39)	V200A	probably damaging	Het
Lrrn2	C	T	1: 132,865,390 (GRCm39)	Q152*	probably null	Het
Mmadhc	A	G	2: 50,177,895 (GRCm39)	M174T	probably benign	Het
N4bp2	A	G	5: 65,947,799 (GRCm39)	N143S	probably benign	Het
Ndufs1	G	A	1: 63,196,405 (GRCm39)	A340V	possibly damaging	Het
Nid1	A	G	13: 13,661,224 (GRCm39)	D708G	probably damaging	Het
Noc2l	A	C	4: 156,327,033 (GRCm39)	T295P	probably damaging	Het
Nutm1	T	A	2: 112,079,809 (GRCm39)	N702I	probably damaging	Het
Obscn	T	A	11: 58,946,886 (GRCm39)	M4083L	probably benign	Het
Or5b104	T	C	19: 13,072,790 (GRCm39)	Y74C	probably damaging	Het
Otol1	T	A	3: 69,935,118 (GRCm39)	I370N	probably damaging	Het
Paip1	T	G	13: 119,586,449 (GRCm39)	S58A	probably benign	Het
Pfas	T	C	11: 68,884,775 (GRCm39)	T476A	probably benign	Het
Plppr3	G	T	10: 79,703,314 (GRCm39)	R57S	probably damaging	Het
Ptgir	T	C	7: 16,640,932 (GRCm39)	S75P	probably damaging	Het
Raver1	A	T	9: 20,992,568 (GRCm39)	L287Q	probably damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Scn11a	T	A	9: 119,619,036 (GRCm39)	M769L	probably benign	Het
Serpina16	G	T	12: 103,638,836 (GRCm39)	H250Q	probably benign	Het
Serpina3a	G	A	12: 104,082,625 (GRCm39)	V133I	probably benign	Het
Slc12a8	G	A	16: 33,437,491 (GRCm39)	G308D	probably damaging	Het
Slfn5	T	C	11: 82,851,893 (GRCm39)	L673P	probably damaging	Het
Sorcs2	T	C	5: 36,183,166 (GRCm39)	K1036E	possibly damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Sptbn5	C	A	2: 119,897,532 (GRCm39)	E550D	probably damaging	Het
Srgap3	G	T	6: 112,700,045 (GRCm39)	P1002T	probably benign	Het
Tollip	C	T	7: 141,438,180 (GRCm39)	R181H	probably damaging	Het
Trmt1l	T	A	1: 151,330,784 (GRCm39)	S600R	probably benign	Het
Vps16	T	A	2: 130,281,832 (GRCm39)	Y315N	probably damaging	Het
Vps50	A	G	6: 3,551,037 (GRCm39)	E367G	probably benign	Het

Other mutations in Icam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0646:Icam2	UTSW	11	106,271,717 (GRCm39)	missense	probably damaging	0.97
R1651:Icam2	UTSW	11	106,268,782 (GRCm39)	missense	probably damaging	1.00
R2026:Icam2	UTSW	11	106,273,268 (GRCm39)	missense	probably benign	0.01
R3804:Icam2	UTSW	11	106,271,648 (GRCm39)	missense	probably damaging	1.00
R5395:Icam2	UTSW	11	106,273,299 (GRCm39)	splice site	probably null
R6575:Icam2	UTSW	11	106,269,585 (GRCm39)	missense	probably damaging	0.99
R6722:Icam2	UTSW	11	106,273,307 (GRCm39)	missense	probably damaging	0.99
R7221:Icam2	UTSW	11	106,273,268 (GRCm39)	missense	probably benign	0.01
R7579:Icam2	UTSW	11	106,271,589 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGTACTGGGGAGTAGAGC -3'
(R):5'- CAACCAAAGGTGACCTGTCTC -3'

Sequencing Primer
(F):5'- GGGAGTAGAGCCCCCAG -3'
(R):5'- CTCCTTGGGCCACTGGTAATAGAG -3'

Posted On

2015-05-15