Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:Cadm2'

599991

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: 0.494) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66655421-67620908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66771637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 254 (T254M)

Ref Sequence

ENSEMBL: ENSMUSP00000109931 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

PDB Structure

Crystal structure of Ig1 domain of mouse SynCAM 2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000114292
AA Change: T254M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: T254M

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: T245M

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: T245M

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: T245M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: T245M

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

possibly damaging
Transcript: ENSMUST00000128168
AA Change: T245M

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: T245M

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (97/97)

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
3110002H16Rik	G	A	18: 12,181,599	D289N	probably damaging	Het
Aars	G	T	8: 111,043,264	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,518,734	S425T	probably benign	Het
Acads	A	T	5: 115,112,781	F152L	probably damaging	Het
Acpp	T	A	9: 104,326,966	H43L	probably damaging	Het
Adora2a	A	G	10: 75,333,646	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,386	D242V	probably damaging	Het
Alx4	A	G	2: 93,642,711	D18G	probably damaging	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,561,528	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,369,375	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
B4galt4	C	A	16: 38,757,810	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,432,314	T284S	possibly damaging	Het
Bop1	C	T	15: 76,454,348	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,677,965	L1037H	probably damaging	Het
Ccdc180	T	C	4: 45,890,389		probably null	Het
Ccdc7a	A	T	8: 128,892,437	D875E	possibly damaging	Het
Cenpu	A	G	8: 46,562,467	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,722,940	C292*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Chst14	A	G	2: 118,927,775	H350R	probably benign	Het
Clca3a1	T	A	3: 144,749,731	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,031,070	T385A	probably benign	Het
Crmp1	A	C	5: 37,284,095	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,671,169	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,210,162	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,236,996	I342T	probably damaging	Het
Dnah9	T	A	11: 65,850,013	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,950,758	H372R	probably benign	Het
Gja8	C	A	3: 96,919,776	C190F	probably damaging	Het
Gm13088	A	G	4: 143,654,553	L300P	probably benign	Het
Gm8297	A	T	14: 4,984,945	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,918,730	D2518G	probably benign	Het
Hsd17b12	C	A	2: 94,033,641	M285I	probably benign	Het
Hus1	T	C	11: 9,000,133	E196G	probably damaging	Het
Irf2	G	A	8: 46,807,279	R82Q	probably damaging	Het
Irx2	A	G	13: 72,631,374	D259G	possibly damaging	Het
Jph1	T	A	1: 17,004,378	Q472L	probably benign	Het
Kif2a	T	C	13: 106,987,982	Q142R	probably benign	Het
Lonp1	T	C	17: 56,622,515	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,746,297	F348L	probably damaging	Het
March10	G	T	11: 105,390,228	D410E	probably benign	Het
Mff	A	T	1: 82,747,081		probably null	Het
Necab3	G	A	2: 154,546,280	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,321,757	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,889,946	K425E	probably benign	Het
Ofcc1	A	T	13: 40,142,826	W511R	probably damaging	Het
Olfr1283	T	C	2: 111,369,403	I257T	probably benign	Het
Olfr347	A	C	2: 36,734,330	E3A	probably benign	Het
Olfr551	T	A	7: 102,588,883		probably benign	Het
Olfr56	T	A	11: 49,134,669	I159N	possibly damaging	Het
P2rx2	G	C	5: 110,340,344	A448G	possibly damaging	Het
Papd5	A	T	8: 88,252,554	Q561L	probably benign	Het
Pcnx2	A	T	8: 125,892,018	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,040,218	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,266,770	M1V	probably null	Het
Pla2g16	T	C	19: 7,579,295	C154R	probably benign	Het
Plekha5	A	G	6: 140,589,224	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,397,060	V87D	probably damaging	Het
Pole	G	A	5: 110,297,466		probably null	Het
R3hcc1	T	C	14: 69,705,508	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,563,964	S467T	probably damaging	Het
Rasgrp4	G	T	7: 29,143,102	R267L	probably damaging	Het
Rbm20	T	C	19: 53,850,136	I848T	probably benign	Het
Rims2	T	C	15: 39,198,528	S56P	possibly damaging	Het
Sacs	T	A	14: 61,209,773	D3089E	probably benign	Het
Sall2	C	T	14: 52,316,064	G16R	probably damaging	Het
Scgb1b19	G	A	7: 33,288,487	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,466,990	K1442*	probably null	Het
Sepsecs	A	G	5: 52,644,049	S424P	probably damaging	Het
Set	G	T	2: 30,070,311	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,710,951	F390I	probably damaging	Het
Simc1	G	A	13: 54,547,330	V1269M	probably damaging	Het
Ska3	T	G	14: 57,810,055	D341A	probably damaging	Het
Skiv2l2	A	T	13: 112,872,909	D985E	probably benign	Het
Slc16a10	A	T	10: 40,037,415		probably null	Het
Srgap1	T	A	10: 121,925,967	N92I	probably damaging	Het
Sspo	T	C	6: 48,454,690	V639A	probably damaging	Het
Stk11	A	T	10: 80,125,437		probably benign	Het
Sult5a1	G	A	8: 123,145,441	H221Y	probably benign	Het
Sytl3	T	A	17: 6,736,578	M559K	probably benign	Het
Tab2	A	C	10: 7,919,133	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,221,587	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,774,014	M672K	possibly damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Thsd1	G	T	8: 22,243,098	G54W	probably damaging	Het
Tmprss15	A	T	16: 79,003,387	L618I	probably damaging	Het
Top3a	T	C	11: 60,742,964	S769G	probably benign	Het
Trp63	C	A	16: 25,868,224	P396Q	possibly damaging	Het
Ttc30a2	T	C	2: 75,976,929	N413S	probably benign	Het
Uggt1	T	C	1: 36,207,984	S311G	probably damaging	Het
Usp10	G	A	8: 119,952,001	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,902	I148K	probably damaging	Het
Zcchc2	T	G	1: 106,018,252	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,447,141	K82R	probably benign	Het
Zfp273	A	G	13: 67,826,016	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,331,319	I639T	probably damaging	Het
Zfp429	A	T	13: 67,390,439	C295*	probably null	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
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'- CCTCACTGTGCCCAAAATTAGATC -3'
(R):5'- TTGTTAAATTGCACAGATGAGAGGG -3'

Sequencing Primer
(F):5'- CACTGTGCCCAAAATTAGATCATTTG -3'
(R):5'- AGAGGGTAGCAGCCTTCTCTC -3'

Posted On

2019-11-26