Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00592:Ncam1'

12280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncam1

Ensembl Gene

ENSMUSG00000039542

Gene Name

neural cell adhesion molecule 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL00592

Quality Score

Status

Chromosome

Chromosomal Location

49413436-49710225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49434865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 600 (D600V)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068730

Predicted Effect

probably damaging
Transcript: ENSMUST00000114476
AA Change: D627V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: D627V

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

probably damaging
Transcript: ENSMUST00000166811
AA Change: D627V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: D627V

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 damaging
Transcript: ENSMUST00000193547
AA Change: D627V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: D627V

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

probably damaging
Transcript: ENSMUST00000194252
AA Change: D600V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000194844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215465

Coding Region Coverage

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	A	G	3: 138,126,397 (GRCm39)	I91V	probably damaging	Het
Ak6	T	C	13: 100,800,599 (GRCm39)	V74A	probably benign	Het
Antxr1	C	A	6: 87,265,784 (GRCm39)	V110F	probably damaging	Het
Anxa1	T	C	19: 20,355,033 (GRCm39)	D247G	probably benign	Het
Dgkg	T	C	16: 22,298,112 (GRCm39)		probably benign	Het
Eva1b	T	C	4: 126,043,443 (GRCm39)	M161T	probably benign	Het
Fbxw22	C	A	9: 109,213,108 (GRCm39)	V280F	possibly damaging	Het
Klhl9	A	G	4: 88,639,378 (GRCm39)	S288P	probably damaging	Het
Masp2	C	T	4: 148,687,186 (GRCm39)	P23S	probably benign	Het
Pcnx4	A	G	12: 72,626,139 (GRCm39)	N1115S	probably damaging	Het
Pdia2	A	G	17: 26,417,090 (GRCm39)	V109A	probably damaging	Het
Pla1a	G	T	16: 38,235,212 (GRCm39)	H161N	probably damaging	Het
Prokr2	A	T	2: 132,223,424 (GRCm39)	D39E	probably benign	Het
Sall4	T	C	2: 168,597,883 (GRCm39)	D319G	probably damaging	Het
Sgms2	A	G	3: 131,135,482 (GRCm39)	S131P	possibly damaging	Het
Slc22a2	A	T	17: 12,827,305 (GRCm39)	Q319L	possibly damaging	Het
Slc27a5	A	G	7: 12,722,566 (GRCm39)	I636T	probably benign	Het
Tas2r131	T	G	6: 132,934,159 (GRCm39)	T217P	probably damaging	Het
Trh	T	C	6: 92,219,723 (GRCm39)	M198V	possibly damaging	Het
Ube2b	A	C	11: 51,877,546 (GRCm39)	V141G	probably damaging	Het
Ube2l6	T	A	2: 84,639,373 (GRCm39)	V112E	probably damaging	Het
Vmn1r79	T	C	7: 11,910,934 (GRCm39)	I272T	probably benign	Het
Xylb	C	T	9: 119,219,549 (GRCm39)	Q513*	probably null	Het
Zbtb4	T	A	11: 69,667,557 (GRCm39)	C287*	probably null	Het

Other mutations in Ncam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Ncam1	APN	9	49,421,152 (GRCm39)	missense	possibly damaging	0.76
IGL01798:Ncam1	APN	9	49,419,907 (GRCm39)	missense	probably damaging	1.00
IGL02239:Ncam1	APN	9	49,478,702 (GRCm39)	missense	probably damaging	1.00
IGL02368:Ncam1	APN	9	49,454,383 (GRCm39)	nonsense	probably null
IGL02616:Ncam1	APN	9	49,419,988 (GRCm39)	missense	probably benign	0.23
PIT4431001:Ncam1	UTSW	9	49,709,993 (GRCm39)	missense	probably benign	0.04
R0164:Ncam1	UTSW	9	49,479,709 (GRCm39)	missense	probably damaging	1.00
R0164:Ncam1	UTSW	9	49,479,709 (GRCm39)	missense	probably damaging	1.00
R0502:Ncam1	UTSW	9	49,481,118 (GRCm39)	unclassified	probably benign
R0924:Ncam1	UTSW	9	49,473,476 (GRCm39)	intron	probably benign
R1398:Ncam1	UTSW	9	49,428,889 (GRCm39)	intron	probably benign
R1440:Ncam1	UTSW	9	49,456,100 (GRCm39)	missense	probably damaging	1.00
R1491:Ncam1	UTSW	9	49,416,849 (GRCm39)	missense	probably benign	0.15
R1676:Ncam1	UTSW	9	49,468,472 (GRCm39)	missense	probably damaging	1.00
R1743:Ncam1	UTSW	9	49,468,445 (GRCm39)	missense	probably damaging	1.00
R1769:Ncam1	UTSW	9	49,456,556 (GRCm39)	unclassified	probably benign
R1951:Ncam1	UTSW	9	49,456,492 (GRCm39)	missense	probably benign	0.36
R2143:Ncam1	UTSW	9	49,454,319 (GRCm39)	missense	possibly damaging	0.87
R2167:Ncam1	UTSW	9	49,479,781 (GRCm39)	missense	probably benign	0.42
R2170:Ncam1	UTSW	9	49,709,981 (GRCm39)	missense	probably benign	0.06
R2290:Ncam1	UTSW	9	49,434,951 (GRCm39)	splice site	probably benign
R2321:Ncam1	UTSW	9	49,456,132 (GRCm39)	unclassified	probably benign
R3001:Ncam1	UTSW	9	49,468,526 (GRCm39)	missense	probably damaging	0.99
R3002:Ncam1	UTSW	9	49,468,526 (GRCm39)	missense	probably damaging	0.99
R4026:Ncam1	UTSW	9	49,476,295 (GRCm39)	missense	probably benign	0.00
R4279:Ncam1	UTSW	9	49,418,259 (GRCm39)	intron	probably benign
R4289:Ncam1	UTSW	9	49,468,472 (GRCm39)	missense	probably damaging	1.00
R4873:Ncam1	UTSW	9	49,418,921 (GRCm39)	intron	probably benign
R4875:Ncam1	UTSW	9	49,418,921 (GRCm39)	intron	probably benign
R4883:Ncam1	UTSW	9	49,453,183 (GRCm39)	splice site	probably null
R4899:Ncam1	UTSW	9	49,456,551 (GRCm39)	critical splice acceptor site	probably null
R4923:Ncam1	UTSW	9	49,416,779 (GRCm39)	missense	probably benign
R5041:Ncam1	UTSW	9	49,478,085 (GRCm39)	missense	probably damaging	1.00
R5058:Ncam1	UTSW	9	49,709,995 (GRCm39)	missense	probably benign	0.16
R5386:Ncam1	UTSW	9	49,476,174 (GRCm39)	missense	probably damaging	1.00
R5388:Ncam1	UTSW	9	49,456,054 (GRCm39)	missense	probably benign
R5512:Ncam1	UTSW	9	49,420,999 (GRCm39)	splice site	probably null
R5598:Ncam1	UTSW	9	49,457,051 (GRCm39)	missense	probably damaging	1.00
R5895:Ncam1	UTSW	9	49,418,343 (GRCm39)	missense	probably benign
R5972:Ncam1	UTSW	9	49,418,829 (GRCm39)	missense	possibly damaging	0.93
R6059:Ncam1	UTSW	9	49,455,966 (GRCm39)	missense	probably damaging	1.00
R6226:Ncam1	UTSW	9	49,476,304 (GRCm39)	missense	probably benign	0.00
R6392:Ncam1	UTSW	9	49,434,875 (GRCm39)	missense	probably damaging	0.99
R6750:Ncam1	UTSW	9	49,478,639 (GRCm39)	missense	probably damaging	1.00
R6799:Ncam1	UTSW	9	49,419,911 (GRCm39)	missense	probably damaging	0.99
R7230:Ncam1	UTSW	9	49,421,123 (GRCm39)	missense	probably benign	0.00
R7335:Ncam1	UTSW	9	49,418,211 (GRCm39)	missense
R7561:Ncam1	UTSW	9	49,476,242 (GRCm39)	missense	probably damaging	1.00
R7645:Ncam1	UTSW	9	49,476,303 (GRCm39)	missense	probably benign	0.01
R8022:Ncam1	UTSW	9	49,476,192 (GRCm39)	missense	possibly damaging	0.72
R8023:Ncam1	UTSW	9	49,421,057 (GRCm39)	missense	probably benign	0.00
R8045:Ncam1	UTSW	9	49,418,736 (GRCm39)	missense
R8234:Ncam1	UTSW	9	49,456,523 (GRCm39)	missense	probably damaging	0.99
R8308:Ncam1	UTSW	9	49,479,817 (GRCm39)	missense	probably damaging	0.99
R8370:Ncam1	UTSW	9	49,468,431 (GRCm39)	nonsense	probably null
R8500:Ncam1	UTSW	9	49,431,445 (GRCm39)	missense	probably damaging	1.00
R8542:Ncam1	UTSW	9	49,419,898 (GRCm39)	missense	probably damaging	1.00
R8944:Ncam1	UTSW	9	49,431,493 (GRCm39)	missense	probably damaging	1.00
R8977:Ncam1	UTSW	9	49,418,825 (GRCm39)	missense	probably damaging	1.00
R9028:Ncam1	UTSW	9	49,418,736 (GRCm39)	missense
R9034:Ncam1	UTSW	9	49,481,198 (GRCm39)	missense	probably benign	0.42
R9106:Ncam1	UTSW	9	49,428,856 (GRCm39)	missense	probably damaging	0.99
R9224:Ncam1	UTSW	9	49,419,995 (GRCm39)	missense	probably damaging	1.00
R9330:Ncam1	UTSW	9	49,456,097 (GRCm39)	missense	probably benign
X0062:Ncam1	UTSW	9	49,456,901 (GRCm39)	nonsense	probably null
X0064:Ncam1	UTSW	9	49,477,980 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06