Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01137:Cadm2'

52964

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: 0.574) question?

Stock #

IGL01137

Quality Score

Status

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66815350 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 108 (T108I)

Ref Sequence

ENSEMBL: ENSMUSP00000134554 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114292
AA Change: T117I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: T117I

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 damaging
Transcript: ENSMUST00000120594
AA Change: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: T108I

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 damaging
Transcript: ENSMUST00000120898
AA Change: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: T108I

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

probably damaging
Transcript: ENSMUST00000128168
AA Change: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: T108I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,394,611		probably null	Het
Ankrd11	T	C	8: 122,884,336	T2583A	probably damaging	Het
Anxa7	G	A	14: 20,456,580	Q431*	probably null	Het
Asb15	T	A	6: 24,556,522	D5E	probably benign	Het
Bex1	C	A	X: 136,214,494	D29Y	probably damaging	Het
Cecr2	T	G	6: 120,762,028	L1211V	probably damaging	Het
Cntn2	T	C	1: 132,521,297		probably benign	Het
Ctrc	C	A	4: 141,838,754	V198L	possibly damaging	Het
Cyp2g1	A	G	7: 26,814,259	S208G	possibly damaging	Het
Ddx46	T	A	13: 55,669,717	Y718*	probably null	Het
Dlec1	T	C	9: 119,137,311	I1116T	probably damaging	Het
Dnajc13	A	G	9: 104,160,490	Y2177H	probably benign	Het
Dpp6	T	C	5: 27,714,488	F661S	probably damaging	Het
Dpy19l2	G	A	9: 24,658,562	T365I	possibly damaging	Het
Flot2	T	C	11: 78,049,507	Y27H	probably damaging	Het
Gsta4	T	C	9: 78,205,922	Y95H	possibly damaging	Het
Kir3dl1	A	G	X: 136,526,611	T192A	probably damaging	Het
Llgl1	T	A	11: 60,709,999	N640K	probably benign	Het
Lrch1	C	T	14: 74,757,092	V691M	probably damaging	Het
Myh9	T	C	15: 77,769,542	D1302G	probably benign	Het
Myo18a	T	G	11: 77,827,829	F935V	probably damaging	Het
Mypn	T	C	10: 63,152,854	E464G	probably benign	Het
Olfr1085	A	T	2: 86,657,711	I249N	possibly damaging	Het
Olfr1453	A	T	19: 13,028,030	F100I	possibly damaging	Het
Olfr209	A	C	16: 59,361,972	M82R	probably benign	Het
Olfr685	A	G	7: 105,180,488	V290A	probably benign	Het
R3hdm1	C	T	1: 128,181,875	R39C	probably damaging	Het
Rps3a3	A	T	13: 108,671,132		probably benign	Het
Sec24b	C	T	3: 130,007,444	S401N	probably benign	Het
Slc22a22	C	A	15: 57,254,278	G289V	probably damaging	Het
Stk33	T	C	7: 109,329,568	I246V	probably benign	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Timmdc1	A	T	16: 38,518,385	H114Q	probably benign	Het
Tlcd2	T	C	11: 75,469,511	Y127H	probably damaging	Het
Tnfrsf11a	G	A	1: 105,809,422	D85N	possibly damaging	Het
Trbc2	T	C	6: 41,547,817		probably benign	Het
Unc13b	G	A	4: 43,091,291	R39H	probably damaging	Het
Vwa8	T	C	14: 79,103,647	L1521P	probably damaging	Het
Zbtb17	T	A	4: 141,466,367	C607*	probably null	Het

Other mutations in Cadm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cadm2	APN	16	66882751	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	66882882	missense	possibly damaging	0.73
IGL02541:Cadm2	APN	16	66882883	critical splice acceptor site	probably null
IGL02952:Cadm2	APN	16	66664452	missense	probably damaging	0.99
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
R7965:Cadm2	UTSW	16	66731471	missense	probably benign	0.43
X0026:Cadm2	UTSW	16	66663152	missense	probably damaging	0.96

Posted On

2013-06-21