Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Ncam2'

35421

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

038498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 81314517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063468 (fasta)

Gene Model

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

AlphaFold

O35136

Predicted Effect

probably benign
Transcript: ENSMUST00000037785

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762

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 benign
Transcript: ENSMUST00000067602

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762

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: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,865,772 (GRCm39)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,400,160 (GRCm39)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,845 (GRCm39)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,432,975 (GRCm39)	V136I	probably damaging	Het
Arhgap10	A	T	8: 78,140,210 (GRCm39)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,222,669 (GRCm39)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,844,298 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,406,209 (GRCm39)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,625,151 (GRCm39)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,085,468 (GRCm39)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,944,016 (GRCm39)		probably benign	Het
Baiap3	A	C	17: 25,462,661 (GRCm39)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,361,663 (GRCm39)		probably null	Het
Bms1	G	A	6: 118,385,095 (GRCm39)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,318,546 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm39)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 57,965,675 (GRCm39)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,408,699 (GRCm39)		probably benign	Het
Cntrl	A	T	2: 35,041,744 (GRCm39)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,304,162 (GRCm39)	H503R	probably benign	Het
Crb1	T	A	1: 139,251,073 (GRCm39)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 25,042,028 (GRCm39)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,179,821 (GRCm39)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,543,051 (GRCm39)	R502Q	probably benign	Het
Efcab5	A	G	11: 77,020,702 (GRCm39)	M673T	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
F2rl3	A	G	8: 73,489,426 (GRCm39)	T218A	probably benign	Het
Fam135a	C	T	1: 24,107,045 (GRCm39)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,739,811 (GRCm39)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,734,238 (GRCm39)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,542,160 (GRCm39)		probably benign	Het
Haspin	A	T	11: 73,027,313 (GRCm39)	L592Q	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Iho1	A	T	9: 108,305,639 (GRCm39)	M11K	possibly damaging	Het
Il17rb	T	A	14: 29,726,337 (GRCm39)	T84S	probably damaging	Het
Itga4	T	C	2: 79,151,837 (GRCm39)	L880P	probably damaging	Het
Itih5	A	G	2: 10,190,375 (GRCm39)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,478,821 (GRCm39)	L415F	unknown	Het
Kif2a	A	G	13: 107,113,158 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,748,192 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,267,186 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,367,677 (GRCm39)	V73A	probably benign	Het
Lratd2	G	T	15: 60,695,523 (GRCm39)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,146,800 (GRCm39)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 65,946,011 (GRCm39)		probably benign	Het
Mc2r	A	T	18: 68,541,203 (GRCm39)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,340,933 (GRCm39)		probably null	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nlk	T	C	11: 78,462,301 (GRCm39)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,331,108 (GRCm39)	N429K	probably benign	Het
Nlrp9b	A	G	7: 19,762,423 (GRCm39)	T247A	probably benign	Het
Noxo1	A	T	17: 24,919,136 (GRCm39)		probably null	Het
Or1n1b	A	T	2: 36,780,035 (GRCm39)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,417,904 (GRCm39)	I205L	probably benign	Het
Or3a10	A	G	11: 73,935,944 (GRCm39)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,789,099 (GRCm39)	C96*	probably null	Het
Or4m1	C	A	14: 50,557,636 (GRCm39)	A219S	probably benign	Het
Oxr1	T	C	15: 41,683,458 (GRCm39)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,406,601 (GRCm39)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,545,917 (GRCm39)	T232S	probably benign	Het
Plcxd2	A	T	16: 45,830,070 (GRCm39)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,312,703 (GRCm39)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,357,634 (GRCm39)		probably benign	Het
Prrc2b	G	A	2: 32,109,666 (GRCm39)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,164,321 (GRCm39)	N130K	probably benign	Het
Psme4	C	A	11: 30,761,980 (GRCm39)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,458,104 (GRCm39)	K296E	probably benign	Het
Ptprq	T	C	10: 107,378,596 (GRCm39)		probably null	Het
Rab5b	A	C	10: 128,522,615 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,412,540 (GRCm39)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rsu1	A	T	2: 13,174,946 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,044,029 (GRCm39)	M887V	probably benign	Het
Sgcz	T	A	8: 38,420,073 (GRCm39)	M60L	probably benign	Het
Siglec1	G	A	2: 130,925,861 (GRCm39)	Q282*	probably null	Het
Sipa1l2	T	C	8: 126,148,679 (GRCm39)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,352,409 (GRCm39)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,768,007 (GRCm39)		probably benign	Het
Snx29	T	C	16: 11,556,237 (GRCm39)	V756A	probably benign	Het
Spta1	T	A	1: 174,045,460 (GRCm39)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,615 (GRCm39)	S104A	probably damaging	Het
Stk38	C	A	17: 29,211,390 (GRCm39)		probably null	Het
Stx6	T	C	1: 155,049,909 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,912,040 (GRCm39)	T230I	probably benign	Het
Thrsp	A	G	7: 97,066,709 (GRCm39)	M1T	probably null	Het
Tmem63b	A	T	17: 45,986,299 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,900,733 (GRCm39)		probably benign	Het
Tpd52l2	T	C	2: 181,143,852 (GRCm39)		probably null	Het
Trak1	A	G	9: 121,283,404 (GRCm39)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,167,745 (GRCm39)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,060,482 (GRCm39)	M1V	probably null	Het
Triobp	T	A	15: 78,857,876 (GRCm39)	I1159K	probably benign	Het
Unc45a	A	G	7: 79,976,045 (GRCm39)		probably benign	Het
Usb1	A	G	8: 96,060,085 (GRCm39)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,847,293 (GRCm39)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,579,670 (GRCm39)	K143R	probably benign	Het
Vmn2r75	T	C	7: 85,797,515 (GRCm39)	K766R	probably benign	Het
Xpo5	T	G	17: 46,552,433 (GRCm39)	C1089G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTTTGCATTAATTATGAATGTTGGCTGGAT -3'
(R):5'- CACCTTCTGTCGAAGAAACTCAGAACTC -3'

Sequencing Primer
(F):5'- TTATGAATGTTGGCTGGATAAAGAG -3'
(R):5'- CGAAGAAACTCAGAACTCTTGAGTG -3'

Posted On

2013-05-09