Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Icam5'

562361

Institutional Source

Beutler Lab

Gene Symbol

Icam5

Ensembl Gene

ENSMUSG00000032174

Gene Name

intercellular adhesion molecule 5, telencephalin

Synonyms

Tlcn, TLN, CD50, Icam3

MMRRC Submission

045301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20943372-20950331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20948297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 702 (S702P)

Ref Sequence

ENSEMBL: ENSMUSP00000019616 (fasta)

Gene Model

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

AlphaFold

Q60625

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019616
AA Change: S702P

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
AA Change: S702P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,832,809 (GRCm39)	E122G	probably benign	Het
Adamts2	T	C	11: 50,682,647 (GRCm39)	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,239,723 (GRCm39)	S830P	probably benign	Het
Atp1a3	T	A	7: 24,687,410 (GRCm39)	Q696L	probably benign	Het
Brox	G	A	1: 183,073,523 (GRCm39)	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,747,439 (GRCm39)	I197V	probably benign	Het
Cand2	G	A	6: 115,768,153 (GRCm39)	V433M	probably damaging	Het
Cep83	A	G	10: 94,555,527 (GRCm39)	K74E	probably damaging	Het
Chrng	A	T	1: 87,137,166 (GRCm39)	T275S	probably benign	Het
Clca3a2	T	C	3: 144,789,869 (GRCm39)	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,914,398 (GRCm39)		probably null	Het
Cnga1	T	C	5: 72,775,592 (GRCm39)	N43S	probably benign	Het
Cog8	A	T	8: 107,782,984 (GRCm39)	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,346,738 (GRCm39)		probably null	Het
Cyp26b1	G	A	6: 84,554,132 (GRCm39)	Q162*	probably null	Het
Elmod3	A	G	6: 72,571,736 (GRCm39)	F14S	probably benign	Het
Eps8	A	G	6: 137,516,354 (GRCm39)	S9P	probably benign	Het
Fam184b	T	C	5: 45,741,517 (GRCm39)	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,884,676 (GRCm39)	L654S	unknown	Het
Foxp1	A	T	6: 98,912,373 (GRCm39)	L580Q	unknown	Het
Galr1	A	G	18: 82,423,789 (GRCm39)	S163P	probably damaging	Het
Ganc	T	C	2: 120,258,256 (GRCm39)	F201L	possibly damaging	Het
Gin1	T	C	1: 97,712,876 (GRCm39)	F310L	probably benign	Het
Grik2	A	T	10: 48,977,512 (GRCm39)		probably null	Het
Haus1	A	T	18: 77,851,834 (GRCm39)	F94I	probably benign	Het
Hcn4	A	G	9: 58,760,682 (GRCm39)	Y409C	unknown	Het
Hspa1l	A	G	17: 35,196,231 (GRCm39)	K90R	probably benign	Het
Ifnar1	A	G	16: 91,296,444 (GRCm39)	H315R	probably benign	Het
Klra9	T	C	6: 130,168,224 (GRCm39)	H14R	probably damaging	Het
Krt78	A	G	15: 101,855,829 (GRCm39)	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,367,813 (GRCm39)	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,168,560 (GRCm39)	S598I	unknown	Het
Lama1	A	T	17: 68,059,441 (GRCm39)	D608V		Het
Lrrc55	G	A	2: 85,026,784 (GRCm39)	T80I	probably damaging	Het
Lyst	A	T	13: 13,818,094 (GRCm39)	T1255S	probably benign	Het
Magi2	T	C	5: 20,670,586 (GRCm39)	V310A	probably damaging	Het
Med23	C	A	10: 24,777,902 (GRCm39)	A750D	probably benign	Het
Mmp2	G	A	8: 93,558,414 (GRCm39)	R161Q	probably damaging	Het
Myo15a	A	T	11: 60,387,321 (GRCm39)	I733F	probably benign	Het
Ncan	A	T	8: 70,552,961 (GRCm39)	F1090L	possibly damaging	Het
Or2ag2b	T	G	7: 106,418,202 (GRCm39)	V304G	probably damaging	Het
Otulinl	G	A	15: 27,658,273 (GRCm39)	T199M	probably benign	Het
Pafah1b1	A	G	11: 74,573,104 (GRCm39)	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,399,740 (GRCm39)	Y564N	probably damaging	Het
Pear1	A	G	3: 87,657,596 (GRCm39)	S988P	probably benign	Het
Pgam2	A	C	11: 5,753,013 (GRCm39)	V194G	probably damaging	Het
Plvap	A	T	8: 71,964,221 (GRCm39)	I47N	probably damaging	Het
Prdx6	A	T	1: 161,074,867 (GRCm39)	L71H	probably damaging	Het
Psmb11	G	A	14: 54,863,408 (GRCm39)	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,190,845 (GRCm39)		probably null	Het
Rcn2	T	A	9: 55,964,763 (GRCm39)	N240K	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Slc12a4	T	G	8: 106,673,369 (GRCm39)	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,323,917 (GRCm39)	M1085K	unknown	Het
Smg1	A	T	7: 117,776,178 (GRCm39)	C1371S	probably benign	Het
Spg11	A	T	2: 121,938,585 (GRCm39)	F456L	probably damaging	Het
Srsf10	C	T	4: 135,583,528 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,673,931 (GRCm39)	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,179,705 (GRCm39)	D881V	unknown	Het
Tmem171	T	C	13: 98,829,133 (GRCm39)	T6A	probably benign	Het
Tmem220	T	C	11: 66,916,989 (GRCm39)	L55P	unknown	Het
Ttn	G	T	2: 76,677,125 (GRCm39)	P11037Q	unknown	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp47	T	C	7: 111,692,084 (GRCm39)	S849P	probably benign	Het
Vcan	G	A	13: 89,853,389 (GRCm39)	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,367,083 (GRCm39)	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,761,225 (GRCm39)	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,392,463 (GRCm39)	R178C	probably damaging	Het
Wdr76	G	A	2: 121,359,401 (GRCm39)	V231I	probably damaging	Het
Xirp2	A	T	2: 67,355,895 (GRCm39)	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,088,969 (GRCm39)	T933A	probably benign	Het
Zmynd8	A	G	2: 165,699,973 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,968,630 (GRCm39)	I95K	probably benign	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
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'- AAAACAGTCGTCGTGAGCG -3'
(R):5'- TTTTCTAGCGGGCTCAGTCC -3'

Sequencing Primer
(F):5'- AAAGTACCGGGTGTCCCAG -3'
(R):5'- AGCGGGCTCAGTCCTCTTC -3'

Posted On

2019-06-26