Mutagenetix > Incidental Mutations

Incidental Mutation 'R1898:Cadm2'

212165

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

MMRRC Submission

039918-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R1898 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66815383 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 106 (S106L)

Ref Sequence

ENSEMBL: ENSMUSP00000109931 (fasta)

Gene Model

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

PDB Structure

Crystal structure of Ig1 domain of mouse SynCAM 2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000114292
AA Change: S106L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: S106L

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: S97L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: S97L

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: S97L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: S97L

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: S97L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: S97L

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

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,735,132	N789S	possibly damaging	Het
Abca1	C	A	4: 53,071,977	R1195L	probably benign	Het
Abca14	A	G	7: 120,251,169	Y748C	probably damaging	Het
Abca6	A	G	11: 110,208,799	F974S	probably damaging	Het
Acyp1	T	C	12: 85,288,340	K2E	probably benign	Het
Ahcy	T	A	2: 155,062,253	S355C	probably benign	Het
AI182371	A	G	2: 35,100,649	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,575,683	I215T	probably benign	Het
Aox1	C	T	1: 58,078,442	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,235,048	I631F	probably damaging	Het
Brinp3	T	G	1: 146,901,249	V478G	possibly damaging	Het
Celf2	C	T	2: 6,604,164	V95M	probably damaging	Het
Chka	A	T	19: 3,892,205	E404D	probably damaging	Het
Clec5a	A	C	6: 40,581,936	V72G	probably benign	Het
Cnn1	T	C	9: 22,101,264		probably null	Het
Coq6	A	G	12: 84,366,963	E89G	probably benign	Het
Cpne6	A	T	14: 55,517,028	I538F	possibly damaging	Het
Crx	G	A	7: 15,868,223	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,029,533	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,128,091	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,236,714	N2587S	probably benign	Het
E2f6	C	A	12: 16,824,580	T221K	probably benign	Het
Fat3	T	G	9: 15,960,130	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,323,384	T384I	probably benign	Het
Fes	T	A	7: 80,379,911	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Gabrb2	A	G	11: 42,593,832	K239E	possibly damaging	Het
Gen1	T	C	12: 11,241,608	R727G	probably benign	Het
Glb1	T	A	9: 114,424,035	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724	I57F	possibly damaging	Het
Ice1	T	C	13: 70,602,307	I87V	possibly damaging	Het
Itih1	A	G	14: 30,932,287	Y674H	probably benign	Het
Itsn1	T	A	16: 91,899,580	C24S	probably damaging	Het
Loxl1	A	G	9: 58,297,678	V418A	probably damaging	Het
Myh10	A	G	11: 68,771,906	N595S	probably damaging	Het
Myo5c	C	T	9: 75,297,626	T1587I	probably damaging	Het
Npat	T	A	9: 53,563,637	F910I	probably damaging	Het
Nradd	T	C	9: 110,621,608	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,313,635	E352G	probably benign	Het
Numa1	T	C	7: 101,992,720		probably null	Het
Odc1	T	A	12: 17,548,841	S241T	probably damaging	Het
Olfr128	A	T	17: 37,923,625	N20Y	possibly damaging	Het
Olfr744	A	T	14: 50,618,774	D184V	probably damaging	Het
Pcnx3	T	C	19: 5,672,587	D951G	probably damaging	Het
Pigg	T	C	5: 108,336,542	F685L	probably benign	Het
Pnpla7	T	A	2: 25,053,784		probably benign	Het
Pramef25	C	T	4: 143,950,728	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,659,429	A72T	probably benign	Het
Rp1l1	A	T	14: 64,031,590	T1542S	probably benign	Het
Sct	A	T	7: 141,278,848	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,154,587	S316G	possibly damaging	Het
Shprh	T	C	10: 11,186,869	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,350,307	E924K	probably damaging	Het
Sp7	A	T	15: 102,359,018	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,203,735	T219A	probably damaging	Het
Tenm3	G	T	8: 48,310,761	P753T	probably damaging	Het
Tonsl	A	T	15: 76,638,853		probably null	Het
Trio	A	T	15: 27,742,380	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,694	T166A	probably damaging	Het
Ttll4	A	G	1: 74,697,482	D1122G	probably benign	Het
Vmn1r77	G	A	7: 12,041,623	A41T	probably damaging	Het
Xpo7	A	T	14: 70,695,624	F276Y	probably benign	Het
Zdhhc1	A	T	8: 105,478,746		probably null	Het
Zfp319	C	A	8: 95,328,789	C262F	probably damaging	Het
Zfp442	C	T	2: 150,408,662	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,009,758	R168L	possibly 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	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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCTATTGATTTGACTGACGTGC -3'
(R):5'- CCATCAATCTCTTCCTCACTGAAAG -3'

Sequencing Primer
(F):5'- GACTGACGTGCAATAAATATTTTCTG -3'
(R):5'- CTGTATTCCAGGTTGCAAAAATTG -3'

Posted On

2014-06-30