Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:Cadm3'

507433

Institutional Source

Beutler Lab

Gene Symbol

Cadm3

Ensembl Gene

ENSMUSG00000005338

Gene Name

cell adhesion molecule 3

Synonyms

Necl-1, Tsll1, BIgR, SynCAM3, Igsf4b, Necl1

MMRRC Submission

044443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6273 (G1)

Quality Score

214.458

Status

Validated

Chromosome

Chromosomal Location

173161825-173195214 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CT to C at 173176691 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000111220] [ENSMUST00000147604]

AlphaFold

Q99N28

PDB Structure

Structure of murine DNA binding protein bound with ds DNA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000005470

SMART Domains

Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	67	159	1.43e-8	SMART
IG	169	262	6.31e-1	SMART
IGc2	277	338	3.91e-6	SMART
low complexity region	351	359	N/A	INTRINSIC
4.1m	383	401	9.24e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111220

SMART Domains

Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
IG	33	125	1.43e-8	SMART
IG	135	228	6.31e-1	SMART
IGc2	243	304	3.91e-6	SMART
low complexity region	317	325	N/A	INTRINSIC
4.1m	349	367	9.24e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126963

Predicted Effect

probably benign
Transcript: ENSMUST00000147604

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860

Domain	Start	End	E-Value	Type
PYRIN	6	83	2.11e-15	SMART
Pfam:HIN	156	322	2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157032

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,561 (GRCm39)	I99N	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,988,181 (GRCm39)	I1065V	possibly damaging	Het
Aox1	A	G	1: 58,378,831 (GRCm39)	T1027A	probably benign	Het
Atm	G	A	9: 53,399,222 (GRCm39)	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,167,555 (GRCm39)	I132L	probably benign	Het
BC035044	A	G	6: 128,867,852 (GRCm39)		probably benign	Het
Car3	C	T	3: 14,936,677 (GRCm39)	P247S	probably benign	Het
Ccdc7a	T	C	8: 129,513,819 (GRCm39)	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,905,564 (GRCm39)	V143A	probably benign	Het
Cemip2	T	A	19: 21,779,369 (GRCm39)	V393E	probably damaging	Het
Cog6	A	T	3: 52,903,473 (GRCm39)	F142I	probably damaging	Het
Cracd	A	T	5: 77,005,568 (GRCm39)	D643V	unknown	Het
Crhr1	T	G	11: 104,054,682 (GRCm39)	N98K	possibly damaging	Het
Csf1	A	G	3: 107,656,479 (GRCm39)	V72A	probably damaging	Het
Cwc15	T	A	9: 14,421,537 (GRCm39)	I201K	probably benign	Het
Dgka	T	C	10: 128,559,515 (GRCm39)	K482R	probably benign	Het
Dnah7b	T	C	1: 46,281,476 (GRCm39)	S2846P	possibly damaging	Het
Dst	T	A	1: 34,314,347 (GRCm39)	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,251,095 (GRCm39)	T407A	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fem1a	T	C	17: 56,564,083 (GRCm39)	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Filip1	A	T	9: 79,723,168 (GRCm39)	D1150E	probably benign	Het
Gabra1	A	G	11: 42,031,138 (GRCm39)	V264A	probably damaging	Het
Gm4131	T	C	14: 62,702,299 (GRCm39)	E223G	probably damaging	Het
Gon4l	T	C	3: 88,763,156 (GRCm39)	V333A	probably damaging	Het
Gsk3b	A	G	16: 38,028,408 (GRCm39)	T289A	probably benign	Het
Hmcn2	T	C	2: 31,301,846 (GRCm39)	S2912P	probably damaging	Het
Htr7	A	T	19: 36,018,969 (GRCm39)		probably benign	Het
Ibsp	A	G	5: 104,458,167 (GRCm39)	T235A	probably benign	Het
Ints13	A	T	6: 146,467,179 (GRCm39)	D116E	probably damaging	Het
Irag1	G	T	7: 110,470,790 (GRCm39)	H848N	probably benign	Het
Kctd19	T	C	8: 106,112,117 (GRCm39)	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979 (GRCm39)	N2054D	probably benign	Het
Mink1	A	T	11: 70,502,261 (GRCm39)	K880*	probably null	Het
Myo15b	T	A	11: 115,753,625 (GRCm39)	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,870,320 (GRCm39)	E366G	probably benign	Het
Obscn	T	A	11: 58,967,819 (GRCm39)	T2662S	possibly damaging	Het
Or2g7	T	G	17: 38,378,686 (GRCm39)	L208R	probably damaging	Het
Or2n1b	T	A	17: 38,459,833 (GRCm39)	M118K	possibly damaging	Het
Or4k52	T	C	2: 111,611,567 (GRCm39)	F301L	probably benign	Het
Or52p1	A	G	7: 104,267,102 (GRCm39)	D72G	probably damaging	Het
Or5b12	A	G	19: 12,896,764 (GRCm39)	V303A	probably benign	Het
Or6d13	A	G	6: 116,518,277 (GRCm39)	T288A	possibly damaging	Het
Pah	T	C	10: 87,412,077 (GRCm39)		probably null	Het
Panx3	T	G	9: 37,578,725 (GRCm39)	I85L	probably benign	Het
Pate4	T	C	9: 35,519,086 (GRCm39)	N94D	probably benign	Het
Pde4d	A	G	13: 110,086,755 (GRCm39)	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 132,994,449 (GRCm39)	S138P	probably benign	Het
Pkn1	T	C	8: 84,398,899 (GRCm39)	N696S	probably damaging	Het
Plppr2	A	G	9: 21,855,801 (GRCm39)	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,955,453 (GRCm39)	M538K	probably damaging	Het
Prepl	G	T	17: 85,390,696 (GRCm39)	N87K	probably benign	Het
Prkag2	C	A	5: 25,152,534 (GRCm39)	R190L	probably damaging	Het
Rara	A	G	11: 98,861,048 (GRCm39)	T179A	probably benign	Het
Rfx7	A	G	9: 72,524,279 (GRCm39)	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,703,211 (GRCm39)	V147M	possibly damaging	Het
Rph3a	A	G	5: 121,083,485 (GRCm39)	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc8a2	T	C	7: 15,879,259 (GRCm39)	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,260,171 (GRCm39)	M1V	probably null	Het
Steap1	T	A	5: 5,790,827 (GRCm39)	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,835 (GRCm39)	V729E	probably damaging	Het
Tmprss13	A	G	9: 45,256,630 (GRCm39)	Y525C	probably damaging	Het
Tnik	A	T	3: 28,631,649 (GRCm39)	H383L	possibly damaging	Het
Vars1	T	C	17: 35,232,719 (GRCm39)	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,659,385 (GRCm39)	S200R	probably damaging	Het
Vmn2r130	A	T	17: 23,295,759 (GRCm39)	H643L	probably benign	Het
Vmn2r14	A	T	5: 109,369,133 (GRCm39)	W147R	probably benign	Het
Vps53	T	C	11: 75,992,844 (GRCm39)	E367G	probably benign	Het
Xab2	C	T	8: 3,661,822 (GRCm39)	G544S	probably damaging	Het
Ythdf3	T	A	3: 16,259,020 (GRCm39)	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,257,060 (GRCm39)	P147S	probably benign	Het
Zfp768	A	T	7: 126,944,319 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,763,521 (GRCm39)	M423V	probably benign	Het

Other mutations in Cadm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Cadm3	APN	1	173,168,675 (GRCm39)	missense	possibly damaging	0.66
IGL01989:Cadm3	APN	1	173,165,578 (GRCm39)	unclassified	probably benign
IGL02224:Cadm3	APN	1	173,165,628 (GRCm39)	missense	possibly damaging	0.51
IGL03105:Cadm3	APN	1	173,172,583 (GRCm39)	missense	probably damaging	0.96
R0243:Cadm3	UTSW	1	173,174,140 (GRCm39)	unclassified	probably benign
R0583:Cadm3	UTSW	1	173,168,738 (GRCm39)	missense	probably benign	0.00
R0689:Cadm3	UTSW	1	173,172,019 (GRCm39)	missense	possibly damaging	0.95
R2060:Cadm3	UTSW	1	173,171,969 (GRCm39)	missense	probably damaging	1.00
R2859:Cadm3	UTSW	1	173,174,112 (GRCm39)	missense	possibly damaging	0.90
R3764:Cadm3	UTSW	1	173,174,064 (GRCm39)	missense	probably damaging	1.00
R4077:Cadm3	UTSW	1	173,169,236 (GRCm39)	missense	probably benign	0.01
R4079:Cadm3	UTSW	1	173,169,236 (GRCm39)	missense	probably benign	0.01
R4521:Cadm3	UTSW	1	173,172,630 (GRCm39)	splice site	probably null
R4670:Cadm3	UTSW	1	173,174,013 (GRCm39)	missense	probably damaging	1.00
R4965:Cadm3	UTSW	1	173,164,664 (GRCm39)	missense	probably damaging	1.00
R5267:Cadm3	UTSW	1	173,164,669 (GRCm39)	missense	probably damaging	1.00
R6315:Cadm3	UTSW	1	173,171,919 (GRCm39)	missense	probably benign	0.16
R6342:Cadm3	UTSW	1	173,168,675 (GRCm39)	missense	possibly damaging	0.66
R6544:Cadm3	UTSW	1	173,194,977 (GRCm39)	critical splice donor site	probably null
R6565:Cadm3	UTSW	1	173,169,276 (GRCm39)	missense	possibly damaging	0.81
R7813:Cadm3	UTSW	1	173,171,956 (GRCm39)	missense	probably benign	0.00
R8024:Cadm3	UTSW	1	173,165,622 (GRCm39)	missense	probably damaging	0.99
R8078:Cadm3	UTSW	1	173,168,626 (GRCm39)	missense	probably damaging	0.99
R8699:Cadm3	UTSW	1	173,168,683 (GRCm39)	missense	probably damaging	1.00
R9336:Cadm3	UTSW	1	173,168,786 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGGTGCAGAGCTAAGATC -3'
(R):5'- GCCAATCAGAGACGTCATTTCC -3'

Sequencing Primer
(F):5'- TGCAGAGCTAAGATCTAGACGTC -3'
(R):5'- AGAGACGTCATTTCCTTTCTCGGAAC -3'

Posted On

2018-03-15