Mutagenetix > Incidental Mutations

Incidental Mutation 'R1539:Cadm2'

171612

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

MMRRC Submission

039578-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66784840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 184 (V184F)

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: V193F

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

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: V193F

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: V184F

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

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: V184F

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: V184F

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

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: V184F

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: V37F

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115
AA Change: V37F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128168
AA Change: V184F

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

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: V184F

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: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	T	A	17: 23,717,144		probably benign	Het
Adgrv1	T	A	13: 81,503,978		probably null	Het
Adh7	A	C	3: 138,223,955	T131P	possibly damaging	Het
Agxt	G	A	1: 93,137,979	G190D	probably damaging	Het
AI182371	A	G	2: 35,088,803	I193T	probably damaging	Het
Akna	T	A	4: 63,379,310	T836S	probably benign	Het
Alox12	T	C	11: 70,253,243		probably null	Het
Anapc2	C	A	2: 25,273,063	T104K	probably benign	Het
Ank1	T	C	8: 23,093,919	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,441,391	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,890,473	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,246,771		probably null	Het
Atp5s	G	A	12: 69,741,071	D94N	probably benign	Het
Bpifb5	T	A	2: 154,223,856	H24Q	probably benign	Het
Brd9	A	G	13: 73,944,743	E283G	probably damaging	Het
Casr	A	G	16: 36,495,137	V857A	probably benign	Het
Ccdc18	A	T	5: 108,191,977	Q796L	probably damaging	Het
Cep290	T	C	10: 100,496,828	V263A	probably benign	Het
Clec10a	A	T	11: 70,169,819	N167Y	probably damaging	Het
Cog1	A	G	11: 113,652,232	I189V	possibly damaging	Het
Commd2	A	G	3: 57,646,848	I144T	probably benign	Het
Cse1l	A	G	2: 166,926,372	T197A	probably benign	Het
Csmd3	A	T	15: 47,820,398	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,219,207	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,486,920	I39V	probably benign	Het
Dgkz	G	A	2: 91,938,060	P734S	probably damaging	Het
Diaph3	T	C	14: 86,656,480	D31G	probably damaging	Het
Dlec1	T	C	9: 119,127,450	S731P	probably benign	Het
Dnah11	T	C	12: 117,931,256	R3619G	probably benign	Het
Doc2b	A	G	11: 75,771,957	L405P	probably damaging	Het
Dock3	A	T	9: 106,952,364	I1117N	probably damaging	Het
Dock3	G	A	9: 106,996,913	A453V	probably benign	Het
Ece2	T	A	16: 20,642,513	I474N	probably damaging	Het
Etv4	A	T	11: 101,771,687		probably null	Het
Fam171b	A	T	2: 83,880,098	M705L	probably benign	Het
Frem2	T	C	3: 53,654,210	K959E	probably benign	Het
Fyn	T	C	10: 39,532,070	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,857,857	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204		probably null	Het
Glcci1	A	G	6: 8,591,620	E222G	probably damaging	Het
Gm1968	G	A	16: 29,958,841		noncoding transcript	Het
Gm3604	T	A	13: 62,371,600	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,274,769	I466V	probably benign	Het
Gm9789	T	C	16: 89,158,146	S48P	unknown	Het
Gpat3	A	T	5: 100,883,388	Y136F	probably benign	Het
Gpr171	T	C	3: 59,097,721	D211G	possibly damaging	Het
Hs3st1	T	C	5: 39,614,448	K284R	probably benign	Het
Htr2a	C	T	14: 74,645,168	A198V	possibly damaging	Het
Ice1	C	A	13: 70,605,904	D688Y	probably damaging	Het
Jade1	T	C	3: 41,604,996	M504T	probably benign	Het
Lrp1	T	C	10: 127,584,381		probably null	Het
Lsr	A	T	7: 30,972,092	I72N	possibly damaging	Het
Magel2	G	A	7: 62,378,809	R487H	possibly damaging	Het
Mertk	A	G	2: 128,782,526	D619G	probably benign	Het
Myo1b	A	T	1: 51,799,563	V245E	probably damaging	Het
Myrip	T	A	9: 120,424,623	L254Q	probably benign	Het
Nav3	A	G	10: 109,767,170	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,771,729	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,109,939	E7G	probably benign	Het
Ninl	A	G	2: 150,975,947	V99A	probably damaging	Het
Noct	G	T	3: 51,247,912	E34*	probably null	Het
Notch1	A	T	2: 26,472,113	Y1043*	probably null	Het
Olfr1420	T	C	19: 11,896,491	S157P	possibly damaging	Het
Olfr532	T	A	7: 140,419,413	Y120F	probably benign	Het
Olfr707	A	G	7: 106,891,276	Y278H	probably damaging	Het
Olfr794	G	A	10: 129,570,771	G39R	probably damaging	Het
Pde7b	C	A	10: 20,479,686	R104L	possibly damaging	Het
Pkn1	C	A	8: 83,670,337	R890L	possibly damaging	Het
Podn	A	T	4: 108,021,567	Y368N	probably damaging	Het
Polr1b	G	A	2: 129,118,099		probably null	Het
Ppp1r3c	A	T	19: 36,733,961	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,120,973	F260Y	probably damaging	Het
Prss39	A	G	1: 34,498,535	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,541,287	V340A	probably benign	Het
Ranbp17	T	C	11: 33,297,394	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,515,555	D181V	probably damaging	Het
Sdk1	T	A	5: 142,094,599	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,149,822	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,809,708	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,335,593	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,725,560		probably benign	Het
Spata31d1b	T	C	13: 59,715,919	S294P	possibly damaging	Het
Ssh1	T	G	5: 113,952,003	T342P	probably damaging	Het
Stk10	T	A	11: 32,533,440	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,584,093	D214E	probably benign	Het
Tdp1	A	G	12: 99,912,312	E453G	probably damaging	Het
Tlr1	T	C	5: 64,926,976	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,043,240	C124S	possibly damaging	Het
Trp63	A	G	16: 25,884,849	M516V	probably benign	Het
Ttc28	T	C	5: 111,100,811	V210A	possibly damaging	Het
Tut1	C	T	19: 8,965,486	R646W	probably benign	Het
Ubald1	C	T	16: 4,876,397	E49K	possibly damaging	Het
Usp28	T	C	9: 49,037,796	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,191,771	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,491,925	M789K	probably damaging	Het
Vwa8	A	G	14: 79,062,562	D945G	probably benign	Het
Wdhd1	T	A	14: 47,245,050	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,083,848		probably null	Het
Xrra1	A	T	7: 99,871,357	E57V	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
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
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'- TCAGACTCTGATAAGGCACTATTGCCA -3'
(R):5'- TGCTACACAGCCAATACTCGTTCATTT -3'

Sequencing Primer
(F):5'- TGGGCACATTTGCTGAAAC -3'
(R):5'- CTACCAGTAAATTCAGAGATTGGCTC -3'

Posted On

2014-04-13