Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01554:Ncam2'

90667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncam2

Ensembl Gene

ENSMUSG00000022762

Gene Name

neural cell adhesion molecule 2

Synonyms

Ncam-2, RNCAM, R4B12 antigen, Ocam

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01554

Quality Score

Status

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81309823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 438 (K438E)

Ref Sequence

ENSEMBL: ENSMUSP00000063468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037785] [ENSMUST00000067602]

AlphaFold

O35136

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037785
AA Change: K438E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: K438E

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IGc2	33	100	3.18e-6	SMART
IGc2	127	193	1.13e-11	SMART
IGc2	223	288	2.03e-13	SMART
IGc2	313	387	1.12e-15	SMART
IGc2	413	482	9.93e-8	SMART
FN3	496	578	5.91e-13	SMART
FN3	594	675	2.87e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067602
AA Change: K438E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: K438E

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IGc2	33	100	3.18e-6	SMART
IGc2	127	193	1.13e-11	SMART
IGc2	223	288	2.03e-13	SMART
IGc2	313	387	1.12e-15	SMART
IGc2	413	482	9.93e-8	SMART
FN3	496	578	5.91e-13	SMART
FN3	594	675	2.87e-2	SMART
transmembrane domain	696	718	N/A	INTRINSIC
low complexity region	741	757	N/A	INTRINSIC
low complexity region	789	812	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232550

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit exhibit increased proliferation rate and clonogenic frequency in spinal cord-derived neurospheres. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,932,992 (GRCm39)	I1211V	probably benign	Het
Adgre4	A	G	17: 56,124,090 (GRCm39)	S497G	probably damaging	Het
Ankrd55	T	C	13: 112,459,601 (GRCm39)	M65T	possibly damaging	Het
Entrep3	A	G	3: 89,092,888 (GRCm39)	T257A	probably damaging	Het
Ermard	A	G	17: 15,271,855 (GRCm39)	D338G	possibly damaging	Het
Espl1	T	C	15: 102,221,660 (GRCm39)	L983P	probably damaging	Het
Ext2	A	C	2: 93,642,294 (GRCm39)	L192V	probably damaging	Het
Fam83b	T	A	9: 76,409,403 (GRCm39)	Y241F	probably benign	Het
Fbxl12	G	A	9: 20,550,215 (GRCm39)	P170S	possibly damaging	Het
Fsip2	C	A	2: 82,807,622 (GRCm39)	P1314T	possibly damaging	Het
Greb1l	A	G	18: 10,522,144 (GRCm39)	R747G	probably benign	Het
Hspa1a	G	T	17: 35,189,500 (GRCm39)	P468T	probably damaging	Het
Lamb1	T	C	12: 31,356,976 (GRCm39)	C1028R	probably damaging	Het
Lcn8	C	T	2: 25,544,198 (GRCm39)	A40V	possibly damaging	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Mex3d	G	T	10: 80,217,869 (GRCm39)	N449K	possibly damaging	Het
Mgat4f	A	G	1: 134,317,696 (GRCm39)	N156S	probably damaging	Het
Nudt7	A	G	8: 114,874,625 (GRCm39)		probably benign	Het
Nup214	C	A	2: 31,941,084 (GRCm39)	S39*	probably null	Het
Opn5	A	G	17: 42,918,089 (GRCm39)	S58P	probably damaging	Het
Or6c74	T	C	10: 129,870,052 (GRCm39)	S186P	probably damaging	Het
Or7e173	T	C	9: 19,938,704 (GRCm39)	I177V	possibly damaging	Het
Pcsk1	T	A	13: 75,280,426 (GRCm39)	N750K	probably benign	Het
Pdzrn3	T	C	6: 101,127,502 (GRCm39)	N1055D	probably damaging	Het
Phf2	T	A	13: 48,959,355 (GRCm39)	K884*	probably null	Het
Prkdc	A	G	16: 15,470,166 (GRCm39)	N191S	probably benign	Het
Prpf8	A	T	11: 75,386,472 (GRCm39)	Q987L	probably damaging	Het
Prrc2c	G	A	1: 162,538,355 (GRCm39)	P425L	probably damaging	Het
Rab36	T	C	10: 74,886,520 (GRCm39)	I166T	possibly damaging	Het
Rab3gap1	G	T	1: 127,855,745 (GRCm39)	L461F	possibly damaging	Het
Rnls	A	T	19: 33,368,499 (GRCm39)	Y27N	possibly damaging	Het
Sncaip	A	T	18: 53,002,006 (GRCm39)	I176F	possibly damaging	Het
Tagap	G	A	17: 8,151,780 (GRCm39)	G322S	probably benign	Het
Tas2r130	C	T	6: 131,607,046 (GRCm39)	A250T	probably benign	Het
Tgs1	A	G	4: 3,593,632 (GRCm39)	S507G	probably null	Het
Ttn	T	C	2: 76,706,056 (GRCm39)		probably benign	Het
Zp2	T	C	7: 119,737,548 (GRCm39)	K246E	possibly damaging	Het

Other mutations in Ncam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Ncam2	APN	16	81,314,467 (GRCm39)	missense	probably damaging	1.00
IGL01369:Ncam2	APN	16	81,258,459 (GRCm39)	missense	probably benign	0.09
IGL01892:Ncam2	APN	16	81,386,587 (GRCm39)	missense	possibly damaging	0.71
IGL02320:Ncam2	APN	16	81,231,725 (GRCm39)	missense	probably damaging	0.99
IGL02669:Ncam2	APN	16	81,314,429 (GRCm39)	missense	probably benign	0.18
IGL03073:Ncam2	APN	16	81,418,235 (GRCm39)	missense	possibly damaging	0.70
IGL03353:Ncam2	APN	16	81,231,788 (GRCm39)	missense	probably benign	0.04
BB009:Ncam2	UTSW	16	81,412,708 (GRCm39)	missense	probably damaging	0.99
BB019:Ncam2	UTSW	16	81,412,708 (GRCm39)	missense	probably damaging	0.99
R0087:Ncam2	UTSW	16	81,231,789 (GRCm39)	missense	probably benign	0.11
R0097:Ncam2	UTSW	16	81,314,425 (GRCm39)	missense	probably damaging	1.00
R0276:Ncam2	UTSW	16	81,314,517 (GRCm39)	splice site	probably benign
R0279:Ncam2	UTSW	16	81,420,225 (GRCm39)	splice site	probably benign
R0471:Ncam2	UTSW	16	80,997,772 (GRCm39)	start gained	probably benign
R0523:Ncam2	UTSW	16	81,258,531 (GRCm39)	missense	probably damaging	0.99
R1353:Ncam2	UTSW	16	80,997,803 (GRCm39)	start codon destroyed	probably null
R1646:Ncam2	UTSW	16	81,262,594 (GRCm39)	critical splice donor site	probably benign
R1884:Ncam2	UTSW	16	81,234,571 (GRCm39)	missense	probably damaging	1.00
R2002:Ncam2	UTSW	16	81,386,586 (GRCm39)	missense	possibly damaging	0.70
R2157:Ncam2	UTSW	16	81,287,277 (GRCm39)	missense	probably damaging	1.00
R2330:Ncam2	UTSW	16	81,309,809 (GRCm39)	missense	probably benign	0.17
R2404:Ncam2	UTSW	16	81,287,128 (GRCm39)	splice site	probably benign
R2434:Ncam2	UTSW	16	81,392,113 (GRCm39)	missense	probably benign	0.01
R3104:Ncam2	UTSW	16	81,262,598 (GRCm39)	splice site	probably benign
R3842:Ncam2	UTSW	16	81,231,698 (GRCm39)	missense	probably damaging	1.00
R3954:Ncam2	UTSW	16	81,386,612 (GRCm39)	missense	probably damaging	1.00
R4039:Ncam2	UTSW	16	81,287,211 (GRCm39)	missense	probably benign	0.02
R4210:Ncam2	UTSW	16	81,323,991 (GRCm39)	missense	probably benign	0.02
R4514:Ncam2	UTSW	16	81,309,884 (GRCm39)	missense	probably benign	0.13
R4583:Ncam2	UTSW	16	81,314,445 (GRCm39)	missense	probably damaging	1.00
R4586:Ncam2	UTSW	16	81,262,457 (GRCm39)	missense	probably benign	0.06
R4710:Ncam2	UTSW	16	81,262,594 (GRCm39)	critical splice donor site	probably null
R4732:Ncam2	UTSW	16	81,231,772 (GRCm39)	missense	possibly damaging	0.63
R4733:Ncam2	UTSW	16	81,231,772 (GRCm39)	missense	possibly damaging	0.63
R4876:Ncam2	UTSW	16	81,287,234 (GRCm39)	missense	probably benign	0.27
R4923:Ncam2	UTSW	16	81,386,679 (GRCm39)	missense	possibly damaging	0.48
R5131:Ncam2	UTSW	16	81,234,550 (GRCm39)	missense	probably benign	0.44
R5329:Ncam2	UTSW	16	81,231,707 (GRCm39)	missense	probably damaging	1.00
R5478:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5479:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5481:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5519:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5522:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5523:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5524:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5526:Ncam2	UTSW	16	81,231,766 (GRCm39)	nonsense	probably null
R5718:Ncam2	UTSW	16	81,386,702 (GRCm39)	splice site	probably null
R5793:Ncam2	UTSW	16	81,372,991 (GRCm39)	missense	possibly damaging	0.95
R6050:Ncam2	UTSW	16	81,240,054 (GRCm39)	nonsense	probably null
R6212:Ncam2	UTSW	16	81,229,650 (GRCm39)	missense	probably damaging	1.00
R6847:Ncam2	UTSW	16	81,229,606 (GRCm39)	missense	probably damaging	1.00
R6935:Ncam2	UTSW	16	81,323,879 (GRCm39)	missense	probably benign	0.24
R7159:Ncam2	UTSW	16	81,287,262 (GRCm39)	missense	probably damaging	1.00
R7193:Ncam2	UTSW	16	81,386,683 (GRCm39)	missense	probably damaging	1.00
R7232:Ncam2	UTSW	16	81,309,759 (GRCm39)	missense	probably damaging	1.00
R7346:Ncam2	UTSW	16	81,420,256 (GRCm39)	missense	probably damaging	1.00
R7568:Ncam2	UTSW	16	81,386,689 (GRCm39)	missense	probably benign	0.19
R7686:Ncam2	UTSW	16	81,418,342 (GRCm39)	missense	probably damaging	0.99
R7759:Ncam2	UTSW	16	81,412,672 (GRCm39)	missense	probably damaging	1.00
R7848:Ncam2	UTSW	16	81,287,267 (GRCm39)	missense	probably benign
R7932:Ncam2	UTSW	16	81,412,708 (GRCm39)	missense	probably damaging	0.99
R8078:Ncam2	UTSW	16	81,240,136 (GRCm39)	missense	possibly damaging	0.60
R8287:Ncam2	UTSW	16	81,323,883 (GRCm39)	missense	probably benign	0.07
R8354:Ncam2	UTSW	16	81,309,847 (GRCm39)	missense	probably benign	0.00
R8429:Ncam2	UTSW	16	81,386,523 (GRCm39)	missense	probably damaging	1.00
R8507:Ncam2	UTSW	16	81,309,867 (GRCm39)	missense	possibly damaging	0.63
R8546:Ncam2	UTSW	16	81,314,419 (GRCm39)	missense	probably benign	0.21
R8775:Ncam2	UTSW	16	81,314,429 (GRCm39)	missense	probably benign	0.18
R8775-TAIL:Ncam2	UTSW	16	81,314,429 (GRCm39)	missense	probably benign	0.18
R9082:Ncam2	UTSW	16	81,412,660 (GRCm39)	missense	probably damaging	1.00
R9346:Ncam2	UTSW	16	81,252,204 (GRCm39)	missense	probably benign	0.07
R9386:Ncam2	UTSW	16	81,252,252 (GRCm39)	missense	probably damaging	1.00
R9498:Ncam2	UTSW	16	81,309,887 (GRCm39)	missense	probably benign	0.03
R9510:Ncam2	UTSW	16	81,420,341 (GRCm39)	makesense	probably null
R9587:Ncam2	UTSW	16	81,262,501 (GRCm39)	missense	probably benign	0.00
R9616:Ncam2	UTSW	16	81,240,142 (GRCm39)	missense	probably damaging	1.00
R9642:Ncam2	UTSW	16	81,418,251 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09