Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Cadm4'

515692

Institutional Source

Beutler Lab

Gene Symbol

Cadm4

Ensembl Gene

ENSMUSG00000054793

Gene Name

cell adhesion molecule 4

Synonyms

SynCAM 4, Tsll2, Igsf4c, Necl-4

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24198959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 78 (Q78P)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068023]

AlphaFold

Q8R464

Predicted Effect

probably benign
Transcript: ENSMUST00000068023
AA Change: Q78P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: Q78P

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	29	121	3.18e-6	SMART
IG	130	221	7.89e-2	SMART
IGc2	236	298	1.54e-13	SMART
4.1m	344	362	3.37e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205820

Meta Mutation Damage Score

0.5041

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for one null allele do not display myelination abnormalities. Mice with ubiquitous conditional deletion of the gene show myelination abnormalities, decreased nerve conduction velocity, hindlimb rigidity, limb grasping, and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably damaging	Het

Other mutations in Cadm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Cadm4	APN	7	24,202,184 (GRCm39)	missense	possibly damaging	0.56
IGL01369:Cadm4	APN	7	24,198,947 (GRCm39)	missense	possibly damaging	0.50
IGL02134:Cadm4	APN	7	24,198,986 (GRCm39)	missense	probably benign	0.00
IGL03037:Cadm4	APN	7	24,200,220 (GRCm39)	missense	probably damaging	1.00
IGL03086:Cadm4	APN	7	24,200,240 (GRCm39)	missense	probably damaging	0.96
R0024:Cadm4	UTSW	7	24,202,169 (GRCm39)	missense	probably benign	0.28
R1444:Cadm4	UTSW	7	24,203,046 (GRCm39)	makesense	probably null
R6177:Cadm4	UTSW	7	24,202,186 (GRCm39)	missense	possibly damaging	0.95
R7143:Cadm4	UTSW	7	24,198,992 (GRCm39)	missense	possibly damaging	0.85
R7822:Cadm4	UTSW	7	24,202,970 (GRCm39)	missense	possibly damaging	0.62
R8134:Cadm4	UTSW	7	24,203,030 (GRCm39)	missense	possibly damaging	0.85
X0026:Cadm4	UTSW	7	24,199,349 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AGGACTGGAAGTCTGGACTC -3'
(R):5'- CGAACAGGTCTCAGGACAAGTG -3'

Sequencing Primer
(F):5'- AAGTCTGGACTCCCATGGTC -3'
(R):5'- TGTAGAGCTGGCAGAAGT -3'

Posted On

2018-05-04