Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02320:Ncam2'

288201

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 #

IGL02320

Quality Score

Status

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81231725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 63 (S63L)

Ref Sequence

ENSEMBL: ENSMUSP00000063468 (fasta)

Gene Model

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

AlphaFold

O35136

Predicted Effect

probably damaging
Transcript: ENSMUST00000037785
AA Change: S63L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: S63L

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

probably damaging
Transcript: ENSMUST00000067602
AA Change: S63L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: S63L

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: ENSMUST00000231687

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,445,961 (GRCm39)	S146P	probably damaging	Het
Ap1m2	A	T	9: 21,210,620 (GRCm39)	Y336*	probably null	Het
Arap1	T	C	7: 101,034,236 (GRCm39)	L226P	probably benign	Het
Cacna1c	T	A	6: 118,614,753 (GRCm39)	N1150Y	probably damaging	Het
Ccsap	G	T	8: 124,569,177 (GRCm39)	H221Q	probably damaging	Het
Ceacam3	T	A	7: 16,895,865 (GRCm39)	Y612N	probably benign	Het
Col12a1	A	G	9: 79,523,303 (GRCm39)		probably null	Het
Ddx23	T	C	15: 98,548,819 (GRCm39)	T328A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,570 (GRCm39)	M252K	probably damaging	Het
Fpr2	A	C	17: 18,113,608 (GRCm39)	R201S	probably benign	Het
Ighv1-20	A	G	12: 114,687,463 (GRCm39)	S94P	probably damaging	Het
Itgb7	A	C	15: 102,132,772 (GRCm39)	V180G	probably benign	Het
Mmp13	G	T	9: 7,278,941 (GRCm39)	R344L	probably benign	Het
Mucl3	A	T	17: 35,948,332 (GRCm39)	N422K	probably benign	Het
Or5p52	C	T	7: 107,502,038 (GRCm39)	T38I	possibly damaging	Het
Pde9a	G	A	17: 31,678,059 (GRCm39)	C187Y	probably damaging	Het
Sh2b1	A	G	7: 126,068,341 (GRCm39)	L490P	probably benign	Het
Shank2	A	G	7: 143,974,681 (GRCm39)	T1193A	probably damaging	Het
Shisa2	T	A	14: 59,867,246 (GRCm39)	M166K	probably damaging	Het
Smg7	A	T	1: 152,744,088 (GRCm39)	S40T	possibly damaging	Het
Spef2	A	C	15: 9,717,662 (GRCm39)	S285A	probably damaging	Het
Tlcd3a	A	G	11: 76,096,231 (GRCm39)	M120V	probably damaging	Het
Trgv7	C	A	13: 19,362,249 (GRCm39)	P13Q	unknown	Het
Ttn	A	G	2: 76,769,656 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,884 (GRCm39)		probably null	Het
Vars2	A	G	17: 35,971,346 (GRCm39)	V212A	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Wwc2	A	G	8: 48,316,882 (GRCm39)		probably null	Het
Zbed6	T	C	1: 133,585,411 (GRCm39)	N642S	probably damaging	Het
Zfp423	A	T	8: 88,508,230 (GRCm39)	C580S	probably damaging	Het
Zfp64	A	G	2: 168,768,118 (GRCm39)	V498A	probably 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
IGL01554:Ncam2	APN	16	81,309,823 (GRCm39)	missense	possibly damaging	0.88
IGL01892:Ncam2	APN	16	81,386,587 (GRCm39)	missense	possibly damaging	0.71
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

2015-04-16