Mutagenetix > Incidental Mutation

Incidental Mutation 'R9732:Cadm2'

731506

Institutional Source

Beutler Lab

Gene Symbol

Cadm2

Ensembl Gene

ENSMUSG00000064115

Gene Name

cell adhesion molecule 2

Synonyms

SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R9732 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66452307-67417796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66528297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 346 (T346I)

Ref Sequence

ENSEMBL: ENSMUSP00000113500 (fasta)

Gene Model

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

AlphaFold

Q8BLQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000114292

SMART Domains

Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115

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: T346I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: T346I

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

SMART Domains

Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115

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: ENSMUST00000128168
AA Change: T346I

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: T346I

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,258,446 (GRCm39)	S1007T	probably benign	Het
Akap10	A	T	11: 61,787,545 (GRCm39)	C466S	probably damaging	Het
Apol9b	C	T	15: 77,619,566 (GRCm39)	P121S	possibly damaging	Het
Atr	T	A	9: 95,743,438 (GRCm39)	Y26N	probably damaging	Het
Capn7	T	C	14: 31,090,031 (GRCm39)	I628T	probably damaging	Het
Cfap43	A	G	19: 47,775,446 (GRCm39)	S609P	probably damaging	Het
Chst2	C	T	9: 95,287,951 (GRCm39)	G132S	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Coq10a	A	G	10: 128,199,516 (GRCm39)	F253L	probably benign	Het
Cyp2t4	C	T	7: 26,854,657 (GRCm39)	P46S	probably damaging	Het
Ddx54	T	C	5: 120,763,911 (GRCm39)		probably null	Het
Dip2a	T	A	10: 76,110,077 (GRCm39)	I1180L	probably benign	Het
Dpp8	G	T	9: 64,970,862 (GRCm39)		probably null	Het
Efr3a	T	A	15: 65,720,139 (GRCm39)	N378K	probably benign	Het
Etl4	C	T	2: 20,748,373 (GRCm39)	T237I	probably damaging	Het
Exo1	T	A	1: 175,727,065 (GRCm39)	S459T	probably benign	Het
Fam81b	G	A	13: 76,399,985 (GRCm39)	T91I	probably benign	Het
Fry	A	G	5: 150,328,758 (GRCm39)	E1297G	probably benign	Het
Gm11110	G	A	17: 57,410,382 (GRCm39)	L39F	unknown	Het
Gm3233	G	T	10: 77,595,147 (GRCm39)	Q124K	unknown	Het
Gm7145	C	G	1: 117,913,839 (GRCm39)	H240Q	probably benign	Het
Gnrh1	G	T	14: 67,985,316 (GRCm39)	R67L	possibly damaging	Het
Grip2	T	A	6: 91,761,686 (GRCm39)	E236V	probably damaging	Het
H3c10	A	T	13: 21,902,186 (GRCm39)	I120F	probably benign	Het
Hectd4	G	T	5: 121,392,254 (GRCm39)	E173*	probably null	Het
Hgf	T	A	5: 16,820,748 (GRCm39)	L632I	probably damaging	Het
Igsf11	T	C	16: 38,843,652 (GRCm39)	V255A	probably benign	Het
Jmjd4	G	T	11: 59,341,339 (GRCm39)		probably null	Het
Khdrbs3	C	A	15: 68,885,212 (GRCm39)	N71K	probably damaging	Het
Kif20b	A	G	19: 34,930,353 (GRCm39)	D1286G	probably benign	Het
Lpin3	T	A	2: 160,734,196 (GRCm39)	L27Q	probably damaging	Het
Macroh2a1	G	C	13: 56,243,976 (GRCm39)	F183L	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	T	A	14: 61,033,637 (GRCm39)	F184I	probably damaging	Het
Mst1	A	T	9: 107,959,425 (GRCm39)	D237V	possibly damaging	Het
Mycbp2	T	C	14: 103,448,749 (GRCm39)	D1803G	probably damaging	Het
Ncoa6	T	G	2: 155,244,636 (GRCm39)	K1978T	probably damaging	Het
Nkain4	G	A	2: 180,585,901 (GRCm39)	T54I	probably damaging	Het
Olig3	G	A	10: 19,233,151 (GRCm39)	A259T	probably benign	Het
Or5w14	T	C	2: 87,541,489 (GRCm39)	T254A	possibly damaging	Het
Pacs1	A	G	19: 5,184,997 (GRCm39)	W943R	probably damaging	Het
Pkp4	T	A	2: 59,138,797 (GRCm39)	L349Q	possibly damaging	Het
Polh	A	T	17: 46,498,997 (GRCm39)	H239Q	probably benign	Het
Ptprq	G	C	10: 107,412,767 (GRCm39)	C1777W	probably damaging	Het
Rhod	A	T	19: 4,476,740 (GRCm39)	V127E	probably damaging	Het
Rnf6	A	G	5: 146,152,931 (GRCm39)	S84P	probably benign	Het
Rundc3b	T	C	5: 8,562,406 (GRCm39)	T321A	probably damaging	Het
Rxfp2	G	A	5: 149,993,767 (GRCm39)	A620T	probably damaging	Het
Sacm1l	A	G	9: 123,381,863 (GRCm39)	E155G	probably benign	Het
Saxo5	C	T	8: 3,526,167 (GRCm39)	H107Y	possibly damaging	Het
Sdad1	A	T	5: 92,438,942 (GRCm39)	D471E	probably benign	Het
Sema6a	T	A	18: 47,381,925 (GRCm39)	N874I	probably damaging	Het
Serinc4	C	A	2: 121,283,631 (GRCm39)	W283L	possibly damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Slc24a3	A	T	2: 145,458,591 (GRCm39)	S524C	probably damaging	Het
Slc4a10	T	G	2: 62,135,086 (GRCm39)	S1042R	probably damaging	Het
Smg7	A	T	1: 152,736,212 (GRCm39)	V190D	probably damaging	Het
Sub1	T	A	15: 11,986,650 (GRCm39)	I66F	possibly damaging	Het
Svop	G	A	5: 114,201,142 (GRCm39)	P109S	probably damaging	Het
Synj1	G	A	16: 90,761,414 (GRCm39)	P684L	probably damaging	Het
Synm	A	G	7: 67,385,652 (GRCm39)	V670A	probably damaging	Het
Tep1	T	C	14: 51,088,162 (GRCm39)	I792V	probably benign	Het
Tex22	A	G	12: 113,052,196 (GRCm39)	T85A	possibly damaging	Het
Tmem151a	C	T	19: 5,131,937 (GRCm39)	S423N	probably damaging	Het
Tnks1bp1	T	A	2: 84,889,727 (GRCm39)	W685R	probably damaging	Het
Top3a	A	G	11: 60,640,391 (GRCm39)	F436L	probably benign	Het
Trim55	A	T	3: 19,716,039 (GRCm39)	I200F	probably damaging	Het
Trpv6	T	A	6: 41,603,862 (GRCm39)	R186*	probably null	Het
Ttc6	G	A	12: 57,775,335 (GRCm39)	C1677Y	probably benign	Het
Ttn	C	T	2: 76,769,206 (GRCm39)	V2831I	unknown	Het
Tyrp1	T	A	4: 80,758,930 (GRCm39)	S268T	possibly damaging	Het
Unc5d	C	T	8: 29,381,319 (GRCm39)		probably null	Het
Usb1	G	T	8: 96,065,375 (GRCm39)	V129L	probably damaging	Het
Usp22	G	A	11: 61,051,437 (GRCm39)	T302M	probably damaging	Het
Vmn1r210	C	A	13: 23,011,379 (GRCm39)	L302F	possibly damaging	Het
Zfp689	C	A	7: 127,044,283 (GRCm39)	E116*	probably null	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
R7051:Cadm2	UTSW	16	66,679,767 (GRCm39)	missense	possibly damaging	0.86
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
X0026:Cadm2	UTSW	16	66,460,038 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTTGTTGGCTTAATCACATCG -3'
(R):5'- ATTCTCAAACCTAGCTCCCG -3'

Sequencing Primer
(F):5'- TGGCTTAATCACATCGTCGTAG -3'
(R):5'- ATGACAGAACCTGTGTGTGG -3'

Posted On

2022-11-14