Mutagenetix > Incidental Mutations

Incidental Mutation 'R4094:Cadm2'

317827

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

MMRRC Submission

041628-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66882797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 49 (N49K)

Ref Sequence

ENSEMBL: ENSMUSP00000134554 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000114292
AA Change: N58K

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

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: N58K

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: N49K

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

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: N49K

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: N49K

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

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: N49K

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: N49K

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

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: N49K

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,180,366	C1500R	probably damaging	Het
Amz1	A	T	5: 140,752,166	M93L	probably damaging	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,916,835	P335Q	probably damaging	Het
Bsn	A	C	9: 108,113,870	V1561G	probably damaging	Het
Cct8	T	G	16: 87,487,628	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,189,117	M121V	probably benign	Het
Cpne4	A	G	9: 104,686,535	D37G	probably damaging	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
Dhx35	T	A	2: 158,842,356	I517N	probably damaging	Het
Ehf	T	C	2: 103,290,750		probably benign	Het
Erp29	A	G	5: 121,452,282		probably benign	Het
Fam160a2	T	C	7: 105,388,218	D386G	probably damaging	Het
Fgd6	C	A	10: 94,043,434	P50Q	probably damaging	Het
Foxn3	G	T	12: 99,196,441	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,611,032	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,396,416	I355N	probably damaging	Het
Hgs	T	A	11: 120,469,033	L21*	probably null	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Itga2	T	C	13: 114,870,625	D389G	probably benign	Het
Kdm1b	T	C	13: 47,063,020	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,311,678	D237E	probably benign	Het
Lilr4b	A	T	10: 51,481,410	E114V	probably damaging	Het
Loxl1	G	A	9: 58,312,456	T144I	probably damaging	Het
Macf1	C	T	4: 123,459,269	R1784Q	probably benign	Het
Maml2	G	A	9: 13,620,153	S221N	probably benign	Het
Map3k1	A	G	13: 111,756,162	M853T	possibly damaging	Het
Micu3	T	G	8: 40,335,888	S147A	probably null	Het
Nccrp1	T	C	7: 28,544,226	Y261C	possibly damaging	Het
Olfr1030	A	G	2: 85,984,218	Y126C	probably damaging	Het
Olfr1049	T	C	2: 86,255,330	D121G	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr611	T	A	7: 103,518,037	I116F	possibly damaging	Het
Pclo	C	A	5: 14,855,645	T4963N	unknown	Het
Pdxk	T	C	10: 78,464,810	H13R	probably damaging	Het
Plcg1	A	G	2: 160,747,841	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,490,064	N276S	possibly damaging	Het
Prr12	A	G	7: 45,047,947	L848P	unknown	Het
Ptcd2	A	G	13: 99,332,449	I202T	probably damaging	Het
Rab27a	A	C	9: 73,075,544	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,132,725	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,928,658	F337L	probably damaging	Het
Samd8	T	C	14: 21,793,045	I414T	probably damaging	Het
Sema3e	A	G	5: 14,233,690	I478V	probably benign	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,735,568	I239N	probably benign	Het
Spc25	G	A	2: 69,202,631	S50L	probably damaging	Het
St8sia4	A	T	1: 95,627,686	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,689,843		probably benign	Het
Tigd4	A	G	3: 84,594,640	D288G	probably damaging	Het
Trim34b	A	G	7: 104,334,588	M251V	probably benign	Het
Ttll5	A	T	12: 85,956,602	R214*	probably null	Het
Ttn	T	C	2: 76,900,516		probably benign	Het
Vmp1	A	G	11: 86,643,580	I167T	probably benign	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,401,258	N197I	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
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

Predicted Primers

PCR Primer
(F):5'- ACGCAGCAGCAGTTTAGTAATC -3'
(R):5'- AAATATAATGGTGTGCCTGTAGGG -3'

Sequencing Primer
(F):5'- CGCAGCAGCAGTTTAGTAATCAAAAG -3'
(R):5'- AGGGTGGTCTAATGATTTGAAATTGC -3'

Posted On

2015-05-15