Mutagenetix > Incidental Mutation

Incidental Mutation 'R8775:Ncam2'

664677

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

068719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80997585-81423716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81314429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 468 (N468K)

Ref Sequence

ENSEMBL: ENSMUSP00000063468 (fasta)

Gene Model

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

AlphaFold

O35136

Predicted Effect

probably benign
Transcript: ENSMUST00000037785
AA Change: N468K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: N468K

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
AA Change: N468K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: N468K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	C	6: 39,552,142 (GRCm39)		probably null	Het
Alpk3	A	C	7: 80,727,598 (GRCm39)	M243L	probably benign	Het
Anapc1	A	T	2: 128,499,093 (GRCm39)	Y860N	possibly damaging	Het
Asprv1	T	C	6: 86,605,321 (GRCm39)	S56P	probably damaging	Het
D130043K22Rik	G	T	13: 25,040,982 (GRCm39)	E135*	probably null	Het
Dnmt3b	A	G	2: 153,511,711 (GRCm39)	H293R	possibly damaging	Het
Dsg1a	C	T	18: 20,473,564 (GRCm39)	S879L	probably damaging	Het
Fbxo24	C	T	5: 137,611,213 (GRCm39)	A526T	possibly damaging	Het
Fign	A	T	2: 63,810,891 (GRCm39)	D126E	probably benign	Het
Gpr137	A	G	19: 6,915,800 (GRCm39)	F377L	probably damaging	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Iigp1	A	C	18: 60,523,596 (GRCm39)	Y238S	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Kcnip2	T	C	19: 45,782,149 (GRCm39)	N258S	possibly damaging	Het
Lcat	A	G	8: 106,669,023 (GRCm39)	I84T	possibly damaging	Het
Mansc1	C	T	6: 134,587,631 (GRCm39)	R182H	probably benign	Het
Myh4	T	C	11: 67,148,006 (GRCm39)	M1685T	probably benign	Het
Myo10	T	A	15: 25,800,145 (GRCm39)	V1407E	probably damaging	Het
Nckap1	A	G	2: 80,375,410 (GRCm39)	S297P	probably benign	Het
Nefm	T	C	14: 68,362,108 (GRCm39)	Y52C	probably damaging	Het
Ntng2	A	T	2: 29,117,976 (GRCm39)	N157K	possibly damaging	Het
Oscp1	T	C	4: 125,970,619 (GRCm39)	V136A	probably benign	Het
Oser1	G	A	2: 163,249,004 (GRCm39)	T66I	probably benign	Het
Palld	A	G	8: 62,138,006 (GRCm39)	L583P	possibly damaging	Het
Pex7	A	G	10: 19,760,522 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,004,204 (GRCm39)	Y378H	probably benign	Het
Prss33	T	A	17: 24,052,885 (GRCm39)	N263I	possibly damaging	Het
Psg25	A	C	7: 18,255,153 (GRCm39)	C454W	probably damaging	Het
Ptpn21	T	C	12: 98,649,001 (GRCm39)		probably null	Het
Sh3bp2	A	T	5: 34,719,751 (GRCm39)	S587C	probably damaging	Het
Sos2	A	G	12: 69,664,006 (GRCm39)	F493L	probably benign	Het
St8sia4	T	A	1: 95,519,472 (GRCm39)	T339S	possibly damaging	Het
Taok1	T	C	11: 77,470,632 (GRCm39)	K58E	probably benign	Het
Thsd1	A	G	8: 22,749,643 (GRCm39)	D838G	possibly damaging	Het
Tulp2	A	G	7: 45,164,914 (GRCm39)	T65A	probably benign	Het
Usp54	A	T	14: 20,638,466 (GRCm39)	S205T	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r37	A	T	7: 9,218,991 (GRCm39)	Y464*	probably null	Het
Wdsub1	A	G	2: 59,693,014 (GRCm39)	M300T	probably damaging	Het
Xrcc5	C	T	1: 72,433,089 (GRCm39)	T716I	probably benign	Het
Zfp619	G	T	7: 39,184,639 (GRCm39)	C223F	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
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
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-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'- TCATGCAGGTCTGGAGATAAACATTG -3'
(R):5'- AGCTGTAAATATTGTTGACTACCTG -3'

Sequencing Primer
(F):5'- CAGGTCTGGAGATAAACATTGAATTC -3'
(R):5'- GACTACCTGTAAAATTAGTTGAT -3'

Posted On

2021-03-08