Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Ncam2'

343868

Institutional Source

Beutler Lab

Gene Symbol

Ncam2

Ensembl Gene

ENSMUSG00000022762

Gene Name

neural cell adhesion molecule 2

Synonyms

Ncam-2, RNCAM, R4B12 antigen, Ocam

MMRRC Submission

041804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81314445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 474 (N474D)

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: N474D

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

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: N474D

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: N474D

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

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: N474D

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,274,017 (GRCm39)	L86P	unknown	Het
Aimp1	C	T	3: 132,382,808 (GRCm39)	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,288,605 (GRCm39)	N884I	probably benign	Het
Apoe	G	T	7: 19,431,423 (GRCm39)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,611,996 (GRCm39)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,888,958 (GRCm39)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,356,745 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,531,280 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,969,325 (GRCm39)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cckar	T	A	5: 53,857,124 (GRCm39)	M429L	probably benign	Het
Ccl3	A	T	11: 83,539,164 (GRCm39)	L65Q	probably benign	Het
Ccr3	A	G	9: 123,829,477 (GRCm39)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,303,081 (GRCm39)	I52N	probably damaging	Het
Cdh15	G	A	8: 123,591,767 (GRCm39)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm39)	K719R	probably benign	Het
Cfap43	T	C	19: 47,825,655 (GRCm39)	R38G	probably null	Het
Chd6	T	C	2: 160,856,114 (GRCm39)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 153,908,625 (GRCm39)	R68*	probably null	Het
Col19a1	T	G	1: 24,600,410 (GRCm39)	D44A	unknown	Het
Colgalt2	C	T	1: 152,382,627 (GRCm39)	S493F	probably damaging	Het
Cr1l	T	C	1: 194,812,139 (GRCm39)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,873,616 (GRCm39)	E1164G	probably damaging	Het
Cym	G	T	3: 107,118,718 (GRCm39)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,499,776 (GRCm39)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,336,049 (GRCm39)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,415,742 (GRCm39)	H692R	probably damaging	Het
Ern1	A	T	11: 106,298,031 (GRCm39)	S697T	probably damaging	Het
F12	G	A	13: 55,568,943 (GRCm39)	T273I	probably benign	Het
Fam151b	A	T	13: 92,604,617 (GRCm39)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm39)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,249,356 (GRCm39)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,586,052 (GRCm39)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,601,342 (GRCm39)	D178E	probably benign	Het
Filip1	G	T	9: 79,723,091 (GRCm39)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,958,081 (GRCm39)	Y1722C	probably damaging	Het
Frem3	T	C	8: 81,340,143 (GRCm39)	V812A	probably benign	Het
Fsip2	A	G	2: 82,809,017 (GRCm39)	I1779V	probably benign	Het
Gli2	C	T	1: 118,769,798 (GRCm39)	V585I	probably benign	Het
Gm15056	C	G	8: 21,390,697 (GRCm39)	S80T	probably benign	Het
Gm5145	A	G	17: 20,790,715 (GRCm39)	E31G	probably benign	Het
Gmfg	A	G	7: 28,145,369 (GRCm39)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,459,322 (GRCm39)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,600,152 (GRCm39)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,071 (GRCm39)	D2G	probably damaging	Het
Hc	A	T	2: 34,918,189 (GRCm39)	V698E	probably benign	Het
Helz	G	A	11: 107,536,895 (GRCm39)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,303,277 (GRCm39)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,493,950 (GRCm39)	R286G	probably benign	Het
Hus1b	A	T	13: 31,131,501 (GRCm39)	W53R	probably damaging	Het
Hydin	C	T	8: 111,321,857 (GRCm39)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,315,324 (GRCm39)	P699A	probably benign	Het
Igkv1-122	A	T	6: 67,994,442 (GRCm39)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,120,604 (GRCm39)	Y113C	probably damaging	Het
Iigp1c	T	C	18: 60,379,152 (GRCm39)	I229T	possibly damaging	Het
Il16	A	G	7: 83,332,107 (GRCm39)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,055,637 (GRCm39)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm39)	L357H	probably damaging	Het
Krt78	T	C	15: 101,855,055 (GRCm39)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,569,107 (GRCm39)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lgals3	A	T	14: 47,619,144 (GRCm39)		probably null	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Lpcat3	T	G	6: 124,680,286 (GRCm39)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,377,241 (GRCm39)	T4149A	probably benign	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mical2	A	G	7: 112,012,154 (GRCm39)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,945,553 (GRCm39)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,136,329 (GRCm39)	L362V	possibly damaging	Het
Myh3	T	A	11: 66,987,279 (GRCm39)	Y1376*	probably null	Het
Mymk	C	A	2: 26,952,292 (GRCm39)	V192F	probably benign	Het
Myo1c	A	G	11: 75,562,688 (GRCm39)	D966G	possibly damaging	Het
Nmnat1	T	C	4: 149,553,608 (GRCm39)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,314,367 (GRCm39)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm39)		probably null	Het
Nsd3	T	A	8: 26,200,703 (GRCm39)	M1265K	probably benign	Het
Or13c7	A	G	4: 43,855,262 (GRCm39)	T318A	probably benign	Het
Or1e34	T	C	11: 73,778,629 (GRCm39)	T190A	probably damaging	Het
Or1j16	A	C	2: 36,530,626 (GRCm39)	T192P	probably damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or4c11	G	T	2: 88,695,838 (GRCm39)	M296I	probably benign	Het
Or5b108	T	A	19: 13,168,062 (GRCm39)	F10L	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Or6c216	T	C	10: 129,678,344 (GRCm39)	D189G	probably damaging	Het
Otub1	G	A	19: 7,181,801 (GRCm39)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl2	A	G	2: 121,957,226 (GRCm39)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,608,628 (GRCm39)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,048,835 (GRCm39)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,415,476 (GRCm39)	D447G	probably damaging	Het
Pold1	C	A	7: 44,188,337 (GRCm39)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,015,691 (GRCm39)	T552I	probably benign	Het
Ppl	T	C	16: 4,922,400 (GRCm39)	E294G	probably benign	Het
Pramel12	A	G	4: 143,143,324 (GRCm39)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,056,447 (GRCm39)	S100G	probably benign	Het
Psg16	T	G	7: 16,829,097 (GRCm39)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 122,601,175 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm39)		probably null	Het
Rrbp1	C	T	2: 143,830,671 (GRCm39)	G499S	probably benign	Het
Sema6d	G	T	2: 124,506,082 (GRCm39)	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,900,882 (GRCm39)	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm39)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,289,266 (GRCm39)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 34,897,377 (GRCm39)		probably null	Het
Srrm2	C	T	17: 24,038,593 (GRCm39)		probably benign	Het
Stk38	T	G	17: 29,201,130 (GRCm39)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,662,398 (GRCm39)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 155,940,888 (GRCm39)	H398R	probably benign	Het
Tram2	C	T	1: 21,083,673 (GRCm39)	V83I	probably benign	Het
Ube3a	C	T	7: 58,935,811 (GRCm39)	T565I	probably damaging	Het
Ubr4	T	C	4: 139,108,164 (GRCm39)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,083,644 (GRCm39)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,306,087 (GRCm39)	T163I	probably benign	Het
Vmn2r75	T	A	7: 85,813,290 (GRCm39)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,708,436 (GRCm39)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,708,661 (GRCm39)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 29,981,496 (GRCm39)	F189L	probably benign	Het
Zfp521	T	C	18: 13,977,387 (GRCm39)	M1009V	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTGGATAAAGAGTTCTATGAG -3'
(R):5'- TCGAAGAAACTCAGAACTCTTGAGTG -3'

Sequencing Primer
(F):5'- CTGGATAAAGAGTTCTATGAGGAGTC -3'
(R):5'- ACTGACTTAGTTTTGAATGCT -3'

Posted On

2015-09-24