Mutagenetix > Incidental Mutations

Incidental Mutation 'R8746:Cadm2'

663574

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

R8746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66784809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 203 (R203L)

Ref Sequence

ENSEMBL: ENSMUSP00000109931 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114292
AA Change: R203L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: R203L

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: R194L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: R194L

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: R194L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: R194L

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
AA Change: R47L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115
AA Change: R47L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128168
AA Change: R194L

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

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: R194L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,303,410	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,294,293	E100A	possibly damaging	Het
Aatf	A	T	11: 84,511,512	I116N	probably benign	Het
Abcb11	G	T	2: 69,257,410		probably benign	Het
Adarb2	G	T	13: 8,752,644	A652S	probably benign	Het
Adgb	C	T	10: 10,405,284		probably null	Het
Ankrd34a	C	T	3: 96,597,475		probably benign	Het
Ano2	A	G	6: 125,863,550	I395V	probably benign	Het
Ccr2	T	C	9: 124,106,411	F243L	probably benign	Het
Ccr4	A	G	9: 114,492,850	V49A	probably damaging	Het
Corin	T	C	5: 72,435,352	D234G	probably benign	Het
Drd5	G	T	5: 38,320,090	R142I	probably benign	Het
Dsg1b	A	G	18: 20,395,999	D264G	probably damaging	Het
Ezh2	T	C	6: 47,576,600	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,292,409	T981S	probably benign	Het
Gcg	T	A	2: 62,474,981	K180N	probably damaging	Het
Gm10840	G	A	11: 106,160,916	E23K	unknown	Het
Gm2696	T	G	10: 77,815,203	C174W	unknown	Het
Grin2b	T	C	6: 135,922,987	I299V	probably benign	Het
Hepacam	T	A	9: 37,381,734	V207E	probably damaging	Het
Igf1r	T	A	7: 68,214,997	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,976,039	S96P	possibly damaging	Het
Marf1	T	A	16: 14,117,304	E1533D	probably benign	Het
Megf9	A	G	4: 70,435,274	C432R	probably damaging	Het
Mpp2	A	G	11: 102,063,214	Y236H	probably damaging	Het
Neb	T	C	2: 52,282,601	I1565V	probably damaging	Het
Olfr1001-ps1	T	A	2: 85,633,877	Y149*	probably null	Het
Olfr1392	A	G	11: 49,293,166		probably benign	Het
Olfr1469	A	G	19: 13,410,728	D53G	probably benign	Het
Olfr203	T	A	16: 59,303,610	F152L	probably benign	Het
Olfr308	C	T	7: 86,321,229	C241Y	probably damaging	Het
Olfr663	A	T	7: 104,703,860	I98F	probably damaging	Het
Olfr826	T	C	10: 130,180,217	Y221C	probably damaging	Het
Patj	T	A	4: 98,505,830		probably benign	Het
Pknox1	A	T	17: 31,590,650	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,957,777	T953K		Het
Plekhn1	C	A	4: 156,232,225	R333L	probably damaging	Het
Plk5	T	A	10: 80,358,776	V111D	probably benign	Het
Polr1b	A	G	2: 129,112,677	I398M	possibly damaging	Het
Ranbp3	T	C	17: 56,702,826	V137A	probably benign	Het
Rc3h1	T	A	1: 160,930,174	F21I	probably damaging	Het
Rgs8	T	C	1: 153,671,791	S56P	probably damaging	Het
Rhpn1	G	A	15: 75,713,576	V593M	probably damaging	Het
Sdad1	A	G	5: 92,289,925	S589P	probably benign	Het
Skp1a	A	G	11: 52,246,016	K163R	probably damaging	Het
Slf2	A	G	19: 44,973,624	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,521,501		probably benign	Het
Tmem144	C	T	3: 79,825,348	V208M	probably damaging	Het
Tmem2	G	A	19: 21,826,101	G833R	probably damaging	Het
Tomm34	A	T	2: 164,060,964	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120	V2316D	unknown	Het
Yme1l1	T	A	2: 23,162,531	S66T	probably benign	Het
Zfc3h1	T	C	10: 115,407,980	S739P	probably damaging	Het
Zscan25	T	A	5: 145,287,347	V209E	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
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
R9396:Cadm2	UTSW	16	66747216	missense	probably damaging	0.99
X0026:Cadm2	UTSW	16	66663152	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTAAAGATGGTAAGTTTTGGGCAC -3'
(R):5'- ACCAGTAAATTCAGAGATTGGCTC -3'

Sequencing Primer
(F):5'- GCACATTTGCTGAAACTTTATGTC -3'
(R):5'- TGGCTCTTTAAAAACTGACACCAG -3'

Posted On

2021-03-08