Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Ncam1'

590483

Institutional Source

Beutler Lab

Gene Symbol

Ncam1

Ensembl Gene

ENSMUSG00000039542

Gene Name

neural cell adhesion molecule 1

Synonyms

NCAM-140, E-NCAM, NCAM-180, NCAM-1, CD56, NCAM-120, NCAM

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49502136-49798925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49565003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000142275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114476] [ENSMUST00000166811] [ENSMUST00000192584] [ENSMUST00000193547]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114476
AA Change: E262G

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: E262G

Domain	Start	End	E-Value	Type
IGc2	32	103	2.88e-4	SMART
IGc2	130	196	6.35e-6	SMART
IGc2	226	295	6.38e-20	SMART
IGc2	321	393	4.12e-14	SMART
IGc2	418	487	9.7e-11	SMART
FN3	501	586	4.77e-8	SMART
FN3	602	683	6.97e-1	SMART
low complexity region	711	725	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: E262G

Domain	Start	End	E-Value	Type
IGc2	32	103	2.88e-4	SMART
IGc2	130	196	6.35e-6	SMART
IGc2	226	295	6.38e-20	SMART
IGc2	321	393	4.12e-14	SMART
IGc2	418	487	9.7e-11	SMART
FN3	501	586	4.77e-8	SMART
FN3	602	683	6.97e-1	SMART
transmembrane domain	706	728	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	814	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192584
AA Change: E262G

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141700
Gene: ENSMUSG00000039542
AA Change: E262G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	32	103	1.2e-6	SMART
IGc2	130	196	2.6e-8	SMART
IGc2	226	295	2.6e-22	SMART
IGc2	321	393	1.6e-16	SMART
IGc2	418	487	4e-13	SMART
FN3	501	586	2.4e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193547
AA Change: E262G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: E262G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	32	103	2.88e-4	SMART
IGc2	130	196	6.35e-6	SMART
IGc2	226	295	6.38e-20	SMART
IGc2	321	393	4.12e-14	SMART
IGc2	418	487	9.7e-11	SMART
FN3	501	586	4.77e-8	SMART
FN3	602	683	6.97e-1	SMART
transmembrane domain	706	728	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	814	830	N/A	INTRINSIC

Predicted Effect

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Ncam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ncam1	APN	9	49523565	missense	probably damaging	1.00
IGL01384:Ncam1	APN	9	49509852	missense	possibly damaging	0.76
IGL01798:Ncam1	APN	9	49508607	missense	probably damaging	1.00
IGL02239:Ncam1	APN	9	49567402	missense	probably damaging	1.00
IGL02368:Ncam1	APN	9	49543083	nonsense	probably null
IGL02616:Ncam1	APN	9	49508688	missense	probably benign	0.23
PIT4431001:Ncam1	UTSW	9	49798693	missense	probably benign	0.04
R0164:Ncam1	UTSW	9	49568409	missense	probably damaging	1.00
R0164:Ncam1	UTSW	9	49568409	missense	probably damaging	1.00
R0502:Ncam1	UTSW	9	49569818	unclassified	probably benign
R0924:Ncam1	UTSW	9	49562176	intron	probably benign
R1398:Ncam1	UTSW	9	49517589	intron	probably benign
R1440:Ncam1	UTSW	9	49544800	missense	probably damaging	1.00
R1491:Ncam1	UTSW	9	49505549	missense	probably benign	0.15
R1676:Ncam1	UTSW	9	49557172	missense	probably damaging	1.00
R1743:Ncam1	UTSW	9	49557145	missense	probably damaging	1.00
R1769:Ncam1	UTSW	9	49545256	unclassified	probably benign
R1951:Ncam1	UTSW	9	49545192	missense	probably benign	0.36
R2143:Ncam1	UTSW	9	49543019	missense	possibly damaging	0.87
R2167:Ncam1	UTSW	9	49568481	missense	probably benign	0.42
R2170:Ncam1	UTSW	9	49798681	missense	probably benign	0.06
R2290:Ncam1	UTSW	9	49523651	splice site	probably benign
R2321:Ncam1	UTSW	9	49544832	unclassified	probably benign
R3001:Ncam1	UTSW	9	49557226	missense	probably damaging	0.99
R3002:Ncam1	UTSW	9	49557226	missense	probably damaging	0.99
R4026:Ncam1	UTSW	9	49564995	missense	probably benign	0.00
R4279:Ncam1	UTSW	9	49506959	intron	probably benign
R4289:Ncam1	UTSW	9	49557172	missense	probably damaging	1.00
R4873:Ncam1	UTSW	9	49507621	intron	probably benign
R4875:Ncam1	UTSW	9	49507621	intron	probably benign
R4883:Ncam1	UTSW	9	49541883	splice site	probably null
R4899:Ncam1	UTSW	9	49545251	critical splice acceptor site	probably null
R4923:Ncam1	UTSW	9	49505479	missense	probably benign
R5041:Ncam1	UTSW	9	49566785	missense	probably damaging	1.00
R5058:Ncam1	UTSW	9	49798695	missense	probably benign	0.16
R5386:Ncam1	UTSW	9	49564874	missense	probably damaging	1.00
R5388:Ncam1	UTSW	9	49544754	missense	probably benign
R5512:Ncam1	UTSW	9	49509699	splice site	probably null
R5598:Ncam1	UTSW	9	49545751	missense	probably damaging	1.00
R5895:Ncam1	UTSW	9	49507043	missense	probably benign
R5972:Ncam1	UTSW	9	49507529	missense	possibly damaging	0.93
R6059:Ncam1	UTSW	9	49544666	missense	probably damaging	1.00
R6226:Ncam1	UTSW	9	49565004	missense	probably benign	0.00
R6392:Ncam1	UTSW	9	49523575	missense	probably damaging	0.99
R6750:Ncam1	UTSW	9	49567339	missense	probably damaging	1.00
R6799:Ncam1	UTSW	9	49508611	missense	probably damaging	0.99
R7230:Ncam1	UTSW	9	49509823	missense	probably benign	0.00
R7335:Ncam1	UTSW	9	49506911	missense
R7561:Ncam1	UTSW	9	49564942	missense	probably damaging	1.00
R8022:Ncam1	UTSW	9	49564892	missense	possibly damaging	0.72
R8023:Ncam1	UTSW	9	49509757	missense	probably benign	0.00
R8045:Ncam1	UTSW	9	49507436	missense
R8234:Ncam1	UTSW	9	49545223	missense	probably damaging	0.99
R8308:Ncam1	UTSW	9	49568517	missense	probably damaging	0.99
R8370:Ncam1	UTSW	9	49557131	nonsense	probably null
R8500:Ncam1	UTSW	9	49520145	missense	probably damaging	1.00
R8542:Ncam1	UTSW	9	49508598	missense	probably damaging	1.00
R8944:Ncam1	UTSW	9	49520193	missense	probably damaging	1.00
R8977:Ncam1	UTSW	9	49507525	missense	probably damaging	1.00
R9028:Ncam1	UTSW	9	49507436	missense
R9034:Ncam1	UTSW	9	49569898	missense	probably benign	0.42
R9106:Ncam1	UTSW	9	49517556	missense	probably damaging	0.99
R9224:Ncam1	UTSW	9	49508695	missense	probably damaging	1.00
R9330:Ncam1	UTSW	9	49544797	missense	probably benign
X0062:Ncam1	UTSW	9	49545601	nonsense	probably null
X0064:Ncam1	UTSW	9	49566680	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGACAGTGTGGGTATGCC -3'
(R):5'- AACGGGAGATGAAGTCTTTCCC -3'

Sequencing Primer
(F):5'- GAATTGTAGCTGAACAGGGGCC -3'
(R):5'- CTTCTATGTAGACTGAGCCCG -3'

Posted On

2019-10-24