Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02541:Cadm2'

298254

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66882882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 21 (G21V)

Ref Sequence

ENSEMBL: ENSMUSP00000134554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114292] [ENSMUST00000120594] [ENSMUST00000120898] [ENSMUST00000123266] [ENSMUST00000128168]

AlphaFold

Q8BLQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000114292
AA Change: G30V

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: G30V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	38	130	2.19e-9	SMART
Pfam:Ig_3	135	216	1.2e-6	PFAM
Pfam:C2-set_2	135	222	6.4e-17	PFAM
Pfam:Ig_2	135	228	1.8e-6	PFAM
Pfam:I-set	136	229	1.3e-7	PFAM
Pfam:C1-set	142	225	1.5e-9	PFAM
IGc2	248	312	2.56e-10	SMART
4.1m	357	375	5.39e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120594
AA Change: G21V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: G21V

Domain	Start	End	E-Value	Type
IG	29	121	2.19e-9	SMART
Pfam:Ig_3	126	207	4.2e-7	PFAM
Pfam:C2-set_2	126	213	1.8e-16	PFAM
Pfam:I-set	127	220	1.5e-7	PFAM
Pfam:C1-set	133	216	7e-10	PFAM
Pfam:ig	133	218	9.5e-9	PFAM
IGc2	239	303	2.56e-10	SMART
low complexity region	319	352	N/A	INTRINSIC
4.1m	388	406	5.39e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120898
AA Change: G21V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: G21V

Domain	Start	End	E-Value	Type
IG	29	121	2.19e-9	SMART
Pfam:Ig_3	126	207	1.2e-6	PFAM
Pfam:C2-set_2	126	213	6.2e-17	PFAM
Pfam:Ig_2	126	219	1.7e-6	PFAM
Pfam:I-set	127	220	1.3e-7	PFAM
Pfam:C1-set	133	216	1.5e-9	PFAM
IGc2	239	303	2.56e-10	SMART
4.1m	348	366	5.39e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123266

SMART Domains

Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115

Domain	Start	End	E-Value	Type
Blast:IG_like	19	53	1e-15	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128168
AA Change: G21V

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: G21V

Domain	Start	End	E-Value	Type
IG	29	121	2.19e-9	SMART
Pfam:Ig_3	126	207	1.4e-6	PFAM
Pfam:C2-set_2	126	213	7.2e-16	PFAM
Pfam:I-set	127	220	5e-7	PFAM
Pfam:C1-set	133	216	2.2e-9	PFAM
Pfam:ig	133	218	3.6e-8	PFAM
IGc2	239	303	2.56e-10	SMART
low complexity region	319	352	N/A	INTRINSIC
4.1m	388	406	5.39e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141282

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice with ubiquitous conditional deletion of the gene do not display any neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,514,658	L917F	possibly damaging	Het
Abca6	A	T	11: 110,212,267	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,266	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,507,769	V968A	probably benign	Het
Bend7	T	C	2: 4,763,305		probably null	Het
Camta1	G	A	4: 151,084,655	T1191I	probably benign	Het
Cep152	C	T	2: 125,605,354	A425T	probably damaging	Het
Cep95	C	A	11: 106,815,581	Q554K	probably damaging	Het
Cgref1	A	G	5: 30,934,158		probably null	Het
Clock	T	A	5: 76,262,672		probably null	Het
Cmc2	A	G	8: 116,894,144	F33L	probably benign	Het
Cnksr3	A	G	10: 7,135,073	V258A	probably damaging	Het
Col6a6	G	T	9: 105,732,216	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,989	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,658,647	V337I	probably benign	Het
E2f3	A	T	13: 29,916,844		probably null	Het
Eif1ad	A	G	19: 5,368,417		probably benign	Het
Fam114a2	A	T	11: 57,499,801	D302E	probably benign	Het
Fam129c	A	T	8: 71,602,782	T279S	probably benign	Het
Fign	T	C	2: 63,979,537	N463S	probably benign	Het
Fzr1	T	C	10: 81,370,033	T220A	probably damaging	Het
Gm14496	G	A	2: 182,000,393	R619Q	probably benign	Het
Gm9268	T	A	7: 43,023,668		probably benign	Het
Gm9966	T	C	7: 95,958,784	I104T	unknown	Het
Itgb7	G	T	15: 102,223,457	H230Q	probably benign	Het
Kif7	T	C	7: 79,710,880	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,634,966	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,161,460	T160A	probably damaging	Het
Mpp6	A	G	6: 50,183,727	I323V	probably benign	Het
Mrps9	T	C	1: 42,862,654		probably null	Het
Mum1	G	A	10: 80,228,439		probably null	Het
Mynn	T	A	3: 30,611,603	H461Q	probably damaging	Het
Naa25	A	G	5: 121,424,531	T459A	possibly damaging	Het
Notch1	C	T	2: 26,468,503	D1439N	probably benign	Het
Olfr701	A	G	7: 106,818,602	E173G	probably benign	Het
Pcdhb3	A	T	18: 37,302,145	D388V	probably damaging	Het
Pold3	C	T	7: 100,083,672	G417S	probably damaging	Het
Rad17	A	G	13: 100,633,443		probably benign	Het
Sh3glb1	T	C	3: 144,720,040	D5G	probably damaging	Het
Shank3	T	A	15: 89,501,410	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,707,759	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212		probably benign	Het
Snx18	A	T	13: 113,594,766	I564N	probably damaging	Het
Supt6	G	A	11: 78,226,918	R491C	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,879,831	D511E	probably benign	Het
Trio	A	G	15: 27,844,930		probably benign	Het
Trmt12	T	A	15: 58,873,802	W350R	probably benign	Het
Ttc1	T	C	11: 43,738,821	T173A	probably benign	Het
Ttc39d	C	A	17: 80,216,446	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534	E693V	possibly damaging	Het
Vamp2	G	T	11: 69,089,151	E16D	unknown	Het
Wdr70	C	T	15: 7,884,302	W622*	probably null	Het
Zfp28	C	T	7: 6,393,480	Q305*	probably null	Het
Zfp653	C	A	9: 22,055,783	R602L	probably damaging	Het
Zzef1	T	A	11: 72,872,649	V1374E	probably damaging	Het

Other mutations in Cadm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cadm2	APN	16	66882751	missense	probably damaging	1.00
IGL01137:Cadm2	APN	16	66815350	missense	probably damaging	1.00
IGL01340:Cadm2	APN	16	66784785	missense	possibly damaging	0.62
IGL01406:Cadm2	APN	16	66815304	splice site	probably null
IGL02029:Cadm2	APN	16	66747296	missense	probably damaging	1.00
IGL02541:Cadm2	APN	16	66882883	critical splice acceptor site	probably null
IGL02952:Cadm2	APN	16	66664452	missense	probably damaging	0.99
vitro	UTSW	16	66882832	nonsense	probably null
R0050:Cadm2	UTSW	16	66953266	splice site	probably benign
R0050:Cadm2	UTSW	16	66953266	splice site	probably benign
R0399:Cadm2	UTSW	16	66747339	nonsense	probably null
R0883:Cadm2	UTSW	16	66882814	missense	probably damaging	1.00
R1035:Cadm2	UTSW	16	66815347	missense	probably damaging	1.00
R1539:Cadm2	UTSW	16	66784840	missense	probably damaging	1.00
R1889:Cadm2	UTSW	16	66882795	missense	probably damaging	1.00
R1898:Cadm2	UTSW	16	66815383	missense	probably damaging	1.00
R1918:Cadm2	UTSW	16	66747384	splice site	probably benign
R2108:Cadm2	UTSW	16	66731471	missense	probably benign	0.43
R2570:Cadm2	UTSW	16	66815383	missense	probably damaging	1.00
R3878:Cadm2	UTSW	16	66815441	missense	probably damaging	1.00
R4093:Cadm2	UTSW	16	66784788	missense	possibly damaging	0.94
R4094:Cadm2	UTSW	16	66882797	missense	probably damaging	1.00
R5421:Cadm2	UTSW	16	66771627	nonsense	probably null
R5555:Cadm2	UTSW	16	66784815	missense	probably damaging	1.00
R6173:Cadm2	UTSW	16	66882841	missense	probably benign	0.04
R6188:Cadm2	UTSW	16	66815307	critical splice donor site	probably null
R6224:Cadm2	UTSW	16	66664395	missense	probably damaging	1.00
R6492:Cadm2	UTSW	16	66784828	missense	probably damaging	0.98
R6957:Cadm2	UTSW	16	66812838	missense	probably benign	0.02
R7051:Cadm2	UTSW	16	66882879	missense	possibly damaging	0.86
R7183:Cadm2	UTSW	16	66882832	nonsense	probably null
R7322:Cadm2	UTSW	16	66882846	missense	probably damaging	1.00
R7792:Cadm2	UTSW	16	66771637	missense	probably benign	0.01
R7882:Cadm2	UTSW	16	66731471	missense	probably benign	0.43
R8101:Cadm2	UTSW	16	66812842	missense	possibly damaging	0.75
R8166:Cadm2	UTSW	16	66953309	missense	probably benign	0.01
R8325:Cadm2	UTSW	16	66815450	missense	possibly damaging	0.95
R8496:Cadm2	UTSW	16	66664423	missense	probably damaging	1.00
R8746:Cadm2	UTSW	16	66784809	missense	probably damaging	0.99
R9396:Cadm2	UTSW	16	66747216	missense	probably damaging	0.99
X0026:Cadm2	UTSW	16	66663152	missense	probably damaging	0.96

Posted On

2015-04-16