Mutagenetix > Incidental Mutation

Incidental Mutation 'R7051:Cadm2'

547621

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik

MMRRC Submission

045148-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66452307-67417796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66679767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 22 (S22N)

Ref Sequence

ENSEMBL: ENSMUSP00000134554 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000114292
AA Change: S31N

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: S31N

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 benign
Transcript: ENSMUST00000120594
AA Change: S22N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: S22N

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 benign
Transcript: ENSMUST00000120898
AA Change: S22N

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: S22N

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

possibly damaging
Transcript: ENSMUST00000128168
AA Change: S22N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: S22N

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: 99.3%

Validation Efficiency

95% (80/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,919,201 (GRCm39)	S7L	unknown	Het
Aggf1	T	C	13: 95,488,125 (GRCm39)	K674R	possibly damaging	Het
Ampd1	T	C	3: 102,997,389 (GRCm39)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,860,387 (GRCm39)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,514,310 (GRCm39)		probably benign	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,851,083 (GRCm39)	N205D	probably benign	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,365,552 (GRCm39)	V401L	probably damaging	Het
Cacna1a	G	A	8: 85,356,544 (GRCm39)	R1929Q	possibly damaging	Het
Ccdc177	C	T	12: 80,805,927 (GRCm39)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,181,084 (GRCm39)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,738,716 (GRCm39)	I282L	probably benign	Het
Clns1a	T	A	7: 97,361,824 (GRCm39)		probably null	Het
Commd2	A	T	3: 57,554,107 (GRCm39)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,313,200 (GRCm39)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,251,886 (GRCm39)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,196,263 (GRCm39)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,834,969 (GRCm39)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,495,789 (GRCm39)	K643R	probably benign	Het
Dscam	G	A	16: 96,620,986 (GRCm39)	T574M	probably benign	Het
Fam209	A	G	2: 172,315,969 (GRCm39)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,456,337 (GRCm39)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,289,123 (GRCm39)	L133F	probably damaging	Het
Fcsk	A	T	8: 111,616,971 (GRCm39)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,944,170 (GRCm39)	V516A	possibly damaging	Het
Fry	G	A	5: 150,318,634 (GRCm39)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,751,993 (GRCm39)		probably null	Het
Golga7b	T	A	19: 42,256,899 (GRCm39)	*168R	probably null	Het
Golim4	T	A	3: 75,800,309 (GRCm39)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,781,537 (GRCm39)	L404*	probably null	Het
H1f4	A	G	13: 23,806,422 (GRCm39)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,311,462 (GRCm39)	S984R	probably damaging	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Itga4	T	C	2: 79,148,470 (GRCm39)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,621,649 (GRCm39)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,754,688 (GRCm39)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 88,828,606 (GRCm39)	M1L	unknown	Het
Large2	A	T	2: 92,197,367 (GRCm39)	M411K	probably damaging	Het
Lcor	A	G	19: 41,574,191 (GRCm39)	D982G	probably benign	Het
Lingo1	A	G	9: 56,527,467 (GRCm39)	V374A	probably benign	Het
Lrch1	A	G	14: 75,022,962 (GRCm39)	V637A	probably damaging	Het
Lyar	T	C	5: 38,382,024 (GRCm39)	V2A	probably damaging	Het
Nell1	C	T	7: 50,098,592 (GRCm39)	S298L	unknown	Het
Ogfod3	T	A	11: 121,086,031 (GRCm39)	I188F	probably damaging	Het
Opa3	C	A	7: 18,978,961 (GRCm39)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,596,769 (GRCm39)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,617,538 (GRCm39)	T224A	probably benign	Het
Pald1	T	C	10: 61,159,125 (GRCm39)	R769G	probably benign	Het
Pappa2	T	A	1: 158,784,753 (GRCm39)	T86S	unknown	Het
Papss1	T	C	3: 131,307,811 (GRCm39)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,849,994 (GRCm39)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,411,095 (GRCm39)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,717,747 (GRCm39)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,499,952 (GRCm39)	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,316,925 (GRCm39)	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,132,507 (GRCm39)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,573,659 (GRCm39)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,980,677 (GRCm39)	V191A	probably damaging	Het
Rptor	C	T	11: 119,765,012 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,446,377 (GRCm39)	M2808V	probably benign	Het
Scube3	G	A	17: 28,386,573 (GRCm39)	V831I	probably benign	Het
Sin3a	A	T	9: 57,011,218 (GRCm39)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 95,092,572 (GRCm39)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,247,084 (GRCm39)	N501S	probably benign	Het
Sltm	G	A	9: 70,466,348 (GRCm39)	G94R	probably damaging	Het
Smc4	T	A	3: 68,934,835 (GRCm39)	W650R	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Tcf20	T	C	15: 82,740,279 (GRCm39)	N391D	probably damaging	Het
Tiam2	G	A	17: 3,498,758 (GRCm39)	V845M	probably damaging	Het
Tln2	A	G	9: 67,253,699 (GRCm39)	F793L	probably benign	Het
Uckl1	T	C	2: 181,216,037 (GRCm39)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,094,077 (GRCm39)	M102V	probably benign	Het
Usp38	G	A	8: 81,727,750 (GRCm39)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,285 (GRCm39)	V184A	possibly damaging	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Wdr47	T	A	3: 108,525,840 (GRCm39)	L121Q	probably damaging	Het
Wiz	A	G	17: 32,580,507 (GRCm39)	S315P	probably damaging	Het
Zc3h13	T	C	14: 75,568,597 (GRCm39)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Cadm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cadm2	APN	16	66,679,639 (GRCm39)	missense	probably damaging	1.00
IGL01137:Cadm2	APN	16	66,612,238 (GRCm39)	missense	probably damaging	1.00
IGL01340:Cadm2	APN	16	66,581,672 (GRCm39)	missense	possibly damaging	0.62
IGL01406:Cadm2	APN	16	66,612,192 (GRCm39)	splice site	probably null
IGL02029:Cadm2	APN	16	66,544,182 (GRCm39)	missense	probably damaging	1.00
IGL02541:Cadm2	APN	16	66,679,771 (GRCm39)	critical splice acceptor site	probably null
IGL02541:Cadm2	APN	16	66,679,770 (GRCm39)	missense	possibly damaging	0.73
IGL02952:Cadm2	APN	16	66,461,338 (GRCm39)	missense	probably damaging	0.99
vitro	UTSW	16	66,679,720 (GRCm39)	nonsense	probably null
R0050:Cadm2	UTSW	16	66,750,154 (GRCm39)	splice site	probably benign
R0050:Cadm2	UTSW	16	66,750,154 (GRCm39)	splice site	probably benign
R0399:Cadm2	UTSW	16	66,544,225 (GRCm39)	nonsense	probably null
R0883:Cadm2	UTSW	16	66,679,702 (GRCm39)	missense	probably damaging	1.00
R1035:Cadm2	UTSW	16	66,612,235 (GRCm39)	missense	probably damaging	1.00
R1539:Cadm2	UTSW	16	66,581,727 (GRCm39)	missense	probably damaging	1.00
R1889:Cadm2	UTSW	16	66,679,683 (GRCm39)	missense	probably damaging	1.00
R1898:Cadm2	UTSW	16	66,612,271 (GRCm39)	missense	probably damaging	1.00
R1918:Cadm2	UTSW	16	66,544,270 (GRCm39)	splice site	probably benign
R2108:Cadm2	UTSW	16	66,528,357 (GRCm39)	missense	probably benign	0.43
R2570:Cadm2	UTSW	16	66,612,271 (GRCm39)	missense	probably damaging	1.00
R3878:Cadm2	UTSW	16	66,612,329 (GRCm39)	missense	probably damaging	1.00
R4093:Cadm2	UTSW	16	66,581,675 (GRCm39)	missense	possibly damaging	0.94
R4094:Cadm2	UTSW	16	66,679,685 (GRCm39)	missense	probably damaging	1.00
R5421:Cadm2	UTSW	16	66,568,513 (GRCm39)	nonsense	probably null
R5555:Cadm2	UTSW	16	66,581,702 (GRCm39)	missense	probably damaging	1.00
R6173:Cadm2	UTSW	16	66,679,729 (GRCm39)	missense	probably benign	0.04
R6188:Cadm2	UTSW	16	66,612,195 (GRCm39)	critical splice donor site	probably null
R6224:Cadm2	UTSW	16	66,461,281 (GRCm39)	missense	probably damaging	1.00
R6492:Cadm2	UTSW	16	66,581,715 (GRCm39)	missense	probably damaging	0.98
R6957:Cadm2	UTSW	16	66,609,726 (GRCm39)	missense	probably benign	0.02
R7183:Cadm2	UTSW	16	66,679,720 (GRCm39)	nonsense	probably null
R7322:Cadm2	UTSW	16	66,679,734 (GRCm39)	missense	probably damaging	1.00
R7792:Cadm2	UTSW	16	66,568,523 (GRCm39)	missense	probably benign	0.01
R7882:Cadm2	UTSW	16	66,528,357 (GRCm39)	missense	probably benign	0.43
R8101:Cadm2	UTSW	16	66,609,730 (GRCm39)	missense	possibly damaging	0.75
R8166:Cadm2	UTSW	16	66,750,197 (GRCm39)	missense	probably benign	0.01
R8325:Cadm2	UTSW	16	66,612,338 (GRCm39)	missense	possibly damaging	0.95
R8496:Cadm2	UTSW	16	66,461,309 (GRCm39)	missense	probably damaging	1.00
R8746:Cadm2	UTSW	16	66,581,696 (GRCm39)	missense	probably damaging	0.99
R9396:Cadm2	UTSW	16	66,544,102 (GRCm39)	missense	probably damaging	0.99
R9732:Cadm2	UTSW	16	66,528,297 (GRCm39)	missense	probably benign	0.02
X0026:Cadm2	UTSW	16	66,460,038 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

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

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

Posted On

2019-05-13