Mutagenetix > Incidental Mutations

Incidental Mutation 'R8496:Cadm2'

658294

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 #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66664423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 383 (C383S)

Ref Sequence

ENSEMBL: ENSMUSP00000134554 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000114292
AA Change: C352S

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

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: C352S

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: C383S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: C383S

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: C343S

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

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: C343S

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 damaging
Transcript: ENSMUST00000128168
AA Change: C383S

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

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: C383S

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: 99.7%
20x: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,143,952	D755G	possibly damaging	Het
A430033K04Rik	A	G	5: 138,646,858	E335G	probably benign	Het
Afp	C	T	5: 90,491,713	S34F	probably damaging	Het
Ano6	T	A	15: 95,949,926	I639N	probably damaging	Het
Atp13a1	T	G	8: 69,797,968	V411G	probably damaging	Het
Capn2	T	C	1: 182,477,275	I556V	probably benign	Het
Cd34	A	G	1: 194,959,781	E322G	probably benign	Het
Cel	T	C	2: 28,556,188	D557G	probably benign	Het
Cemip	T	C	7: 83,951,426	I996V	probably benign	Het
Clca3a1	A	T	3: 144,747,421	*514R	probably null	Het
Cry2	C	G	2: 92,426,939	R95P	probably damaging	Het
Ctse	T	A	1: 131,664,380	I148N	probably damaging	Het
Cyp4f13	G	C	17: 32,924,859	P497R	probably damaging	Het
Dsn1	C	T	2: 156,997,720	V254M	probably benign	Het
Gm4847	T	A	1: 166,642,192	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,252,468	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,862,082	D33G	probably damaging	Het
Ints6	A	G	14: 62,705,876	Y455H	probably benign	Het
Kctd1	A	T	18: 14,974,171	C150S	probably damaging	Het
Kctd11	T	G	11: 69,880,051	T54P	probably damaging	Het
Kif1b	C	A	4: 149,192,611	G56*	probably null	Het
Kifap3	T	A	1: 163,829,297		probably null	Het
Naip5	G	T	13: 100,212,739	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,170,164	E1198G	probably damaging	Het
Nova1	T	A	12: 46,713,542	K90*	probably null	Het
Odc1	T	A	12: 17,548,395	L179H	probably damaging	Het
Olfr1490	T	A	19: 13,655,024	H193Q	probably damaging	Het
Olfr1496	A	G	19: 13,781,020	N136S	probably benign	Het
Olfr51	T	C	11: 51,007,050	V26A	probably benign	Het
Palm	C	T	10: 79,806,651	T6I	probably benign	Het
Parp10	T	A	15: 76,233,549	D879V	probably damaging	Het
Phf2	A	G	13: 48,817,705	V497A	unknown	Het
Pparg	A	G	6: 115,463,151	I199V	probably benign	Het
Ppm1b	T	A	17: 84,994,232	I180N	probably damaging	Het
Prdx5	A	T	19: 6,908,174	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,798	T236S	probably damaging	Het
Rab5b	G	A	10: 128,682,907	Q119*	probably null	Het
Rdh19	T	A	10: 127,859,600	W228R	probably damaging	Het
Schip1	G	T	3: 68,494,613	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,665,347	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,936,212	V426D	probably damaging	Het
Syne1	T	A	10: 5,228,896	E4526V	probably damaging	Het
Syne1	T	C	10: 5,318,441	K2083E	probably damaging	Het
Tecta	T	A	9: 42,330,251	I2143F	probably benign	Het
Tfap4	T	C	16: 4,551,306	D90G	probably damaging	Het
Ttll12	T	C	15: 83,577,809	Y569C	probably damaging	Het
Zfp326	T	G	5: 105,888,585	S121A	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	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
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

Predicted Primers

PCR Primer
(F):5'- GCACATCATTTGCCTTAAGGTAGAG -3'
(R):5'- TGTGCTGTAGCCACACAACC -3'

Sequencing Primer
(F):5'- TGAAATAACACTTATCATCACTTCCC -3'
(R):5'- TGCTGTAGCCACACAACCAATATTTG -3'

Posted On

2021-01-18