Mutagenetix > Incidental Mutation

Incidental Mutation 'R1353:Ncam2'

157120

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

039418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1353 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 80997803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000063468 (fasta)

Gene Model

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

AlphaFold

O35136

Predicted Effect

probably null
Transcript: ENSMUST00000037785
AA Change: M1R

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: M1R

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 null
Transcript: ENSMUST00000067602
AA Change: M1R

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: M1R

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

1x: 98.8%
3x: 97.6%
10x: 94.1%
20x: 86.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn2	T	C	4: 66,184,572 (GRCm39)	Q175R	unknown	Het
Capn9	A	C	8: 125,332,305 (GRCm39)		probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,839,556 (GRCm39)	N1364S	probably damaging	Het
Cmya5	A	T	13: 93,178,033 (GRCm39)	V3607E	probably damaging	Het
Crb2	T	C	2: 37,677,293 (GRCm39)	C262R	probably damaging	Het
Cyp2t4	A	G	7: 26,856,055 (GRCm39)	N204S	probably benign	Het
Epha1	T	C	6: 42,338,771 (GRCm39)	T676A	probably damaging	Het
Fancm	G	A	12: 65,134,944 (GRCm39)	V246M	probably damaging	Het
Fcrl5	T	C	3: 87,355,669 (GRCm39)	S461P	probably damaging	Het
Gen1	A	T	12: 11,293,220 (GRCm39)	L394Q	probably benign	Het
Hsdl2	G	T	4: 59,596,971 (GRCm39)		probably null	Het
Klri2	C	T	6: 129,716,049 (GRCm39)	G97S	probably damaging	Het
Lypla2	T	C	4: 135,697,778 (GRCm39)	I55V	probably null	Het
Malrd1	A	G	2: 16,132,779 (GRCm39)	D1900G	unknown	Het
Map1b	A	G	13: 99,563,834 (GRCm39)	S2378P	unknown	Het
Marchf3	A	T	18: 56,909,177 (GRCm39)		probably null	Het
Myom2	G	T	8: 15,156,424 (GRCm39)	W757L	probably damaging	Het
Nat10	T	A	2: 103,584,418 (GRCm39)	M120L	possibly damaging	Het
Ncoa4	G	T	14: 31,892,815 (GRCm39)	G33*	probably null	Het
Or1j1	C	A	2: 36,702,926 (GRCm39)	M59I	possibly damaging	Het
Or1x2	G	A	11: 50,917,833 (GRCm39)	M1I	probably null	Het
Or2a20	T	A	6: 43,194,624 (GRCm39)	M259K	probably benign	Het
Or4p21	T	C	2: 88,276,895 (GRCm39)	H129R	probably benign	Het
Or6c38	C	T	10: 128,929,733 (GRCm39)	V37I	probably benign	Het
Or8b41	A	C	9: 38,055,024 (GRCm39)	I198L	probably benign	Het
Osbpl8	A	G	10: 111,112,340 (GRCm39)	N485S	probably damaging	Het
Pkdrej	A	T	15: 85,703,119 (GRCm39)	V939E	probably damaging	Het
Plaa	T	C	4: 94,459,926 (GRCm39)	E607G	possibly damaging	Het
Rtel1	T	A	2: 180,991,024 (GRCm39)	C285S	probably benign	Het
Rtl1	A	C	12: 109,558,633 (GRCm39)	C1069G	probably benign	Het
Rtn4	C	A	11: 29,657,595 (GRCm39)	A583E	probably damaging	Het
Runx1	T	A	16: 92,485,939 (GRCm39)	R32*	probably null	Het
Sdcbp	A	G	4: 6,381,057 (GRCm39)	I67M	probably damaging	Het
Slc22a12	G	C	19: 6,587,812 (GRCm39)	L259V	possibly damaging	Het
Sptlc2	A	G	12: 87,388,520 (GRCm39)	S321P	probably damaging	Het
Tmem30c	C	T	16: 57,098,028 (GRCm39)	G131D	probably damaging	Het
Tnfaip2	A	T	12: 111,411,403 (GRCm39)	Q9L	probably damaging	Het
Ttn	T	C	2: 76,576,910 (GRCm39)	Y24661C	probably damaging	Het
Vmn2r77	T	G	7: 86,451,394 (GRCm39)	F427V	probably benign	Het
Zcchc4	A	G	5: 52,964,419 (GRCm39)	I292V	probably benign	Het
Zfp354b	A	T	11: 50,814,240 (GRCm39)	H228Q	probably damaging	Het
Zfp84	T	A	7: 29,475,600 (GRCm39)	N97K	probably benign	Het
Zfp976	T	C	7: 42,265,442 (GRCm39)	D49G	probably damaging	Het
Zgrf1	C	T	3: 127,405,452 (GRCm39)	T1550I	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
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
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'- TGCACCATCCGCATAGCTAGAAAAG -3'
(R):5'- ACGATGCTTATCTCCAATTCCGCAC -3'

Sequencing Primer
(F):5'- gccgccgccTGGATATAG -3'
(R):5'- GTCTTTCGAGCAAACGGATAG -3'

Posted On

2014-02-11