Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Cadm2'

209862

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

A830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2

MMRRC Submission

039910-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.568) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66882795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 50 (D50G)

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: D59G

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

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: D59G

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: D50G

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

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: D50G

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: D50G

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

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: D50G

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: D50G

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

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: D50G

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

Meta Mutation Damage Score

0.4464

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,152,762		noncoding transcript	Het
9130008F23Rik	T	C	17: 40,880,302	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607		probably null	Het
Acp6	C	T	3: 97,165,885	R81W	probably damaging	Het
Agbl1	A	C	7: 76,589,381	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,433,476	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,101,429	M532L	probably damaging	Het
Appl1	A	G	14: 26,925,513		probably benign	Het
Arhgef19	T	C	4: 141,249,313	F462S	probably damaging	Het
Astn1	A	G	1: 158,505,316		probably null	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccdc81	G	A	7: 89,882,294	Q324*	probably null	Het
Cd300lf	A	G	11: 115,120,380	V178A	probably benign	Het
Cdt1	T	C	8: 122,572,052	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,558,725	V225A	probably benign	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Cfap54	A	G	10: 93,034,710	S684P	possibly damaging	Het
Clip1	C	A	5: 123,653,496	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,192,840	E226G	probably benign	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,602,156	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,676,759	A614E	probably benign	Het
Dpm1	C	T	2: 168,217,735	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Engase	T	C	11: 118,478,933	F57S	probably damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
Fam20a	T	C	11: 109,673,554	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Gkn2	T	A	6: 87,378,155	Y115*	probably null	Het
Gtdc1	A	G	2: 44,591,914	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,345,176	D302G	probably benign	Het
Herc2	C	T	7: 56,189,813	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,662,075	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,234,492		probably benign	Het
Ift122	T	C	6: 115,894,421		probably null	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Itgb2	A	T	10: 77,548,623	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,910,469	I65S	probably damaging	Het
Jpt2	T	C	17: 24,960,611	M1V	probably null	Het
Kcnt2	A	T	1: 140,584,293	H995L	probably damaging	Het
Kif20b	T	C	19: 34,941,208		probably benign	Het
Kif7	T	C	7: 79,710,463	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,015,420	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,451,733	D475G	probably damaging	Het
Lcor	T	C	19: 41,559,128	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,919,167	C2463*	probably null	Het
March6	T	C	15: 31,459,193	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,308,677		probably null	Het
Nipal4	T	A	11: 46,150,733	I212F	probably damaging	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Nwd2	A	G	5: 63,807,666	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr204	T	G	16: 59,314,963	Y148S	probably damaging	Het
Oosp1	C	T	19: 11,667,794	V169I	possibly damaging	Het
Opa1	T	C	16: 29,625,585	V863A	possibly damaging	Het
Pabpc4l	A	T	3: 46,446,363	M282K	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pcnx3	T	C	19: 5,672,656	D1336G	probably damaging	Het
Phlpp1	T	C	1: 106,318,850	V590A	possibly damaging	Het
Rbck1	T	A	2: 152,318,356	T468S	probably damaging	Het
Ripor2	T	A	13: 24,693,887	I290N	probably damaging	Het
Rnf139	T	C	15: 58,899,497	L457P	probably damaging	Het
Rtn1	C	A	12: 72,304,410	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,485,021		probably null	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,953,496	V148A	probably damaging	Het
Shank2	C	A	7: 144,186,858	S568*	probably null	Het
Skiv2l2	T	C	13: 112,887,490	N707S	probably benign	Het
Slc10a4	T	C	5: 73,012,147	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,335,490	T37A	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,632,204	D52E	probably benign	Het
Slc6a5	T	C	7: 49,951,434	M661T	probably benign	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Steap4	G	T	5: 7,975,892	R151L	probably damaging	Het
Sun5	T	A	2: 153,865,995	I107L	probably benign	Het
Tacc1	C	T	8: 25,175,253	V488M	probably damaging	Het
Tgs1	A	G	4: 3,614,928	T829A	probably benign	Het
Tnxb	A	G	17: 34,695,825	E1929G	probably damaging	Het
Tssc4	A	C	7: 143,070,555	Q200P	probably damaging	Het
Ttn	A	G	2: 76,758,532	W21398R	probably damaging	Het
Usp50	C	T	2: 126,777,898		probably null	Het
Usp9y	A	T	Y: 1,448,829		probably null	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Zfat	T	C	15: 68,101,539	T1118A	probably benign	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
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
R9732:Cadm2	UTSW	16	66731411	missense	probably benign	0.02
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'- TTATTTTGAGTAAACCCTGATGTCC -3'

Posted On

2014-06-30