Mutagenetix > Incidental Mutation

Incidental Mutation 'R5937:Nrcam'

462335

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C130076O07Rik, C030017F07Rik, Bravo

MMRRC Submission

043242-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44375668-44648747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44619074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 858 (V858I)

Ref Sequence

ENSEMBL: ENSMUSP00000106376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]

AlphaFold

Q810U4

Predicted Effect

probably benign
Transcript: ENSMUST00000020939
AA Change: V868I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: V868I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IGc2	53	124	5.37e-4	SMART
IG	146	233	3.91e-6	SMART
IGc2	277	341	1.73e-16	SMART
IGc2	367	433	4.85e-11	SMART
IGc2	461	526	4.92e-12	SMART
IGc2	552	617	6.55e-8	SMART
low complexity region	618	623	N/A	INTRINSIC
FN3	641	724	3.24e-10	SMART
FN3	738	824	1.77e-2	SMART
FN3	840	931	1.97e-9	SMART
FN3	946	1031	3.73e-10	SMART
transmembrane domain	1120	1142	N/A	INTRINSIC
Pfam:Bravo_FIGEY	1143	1232	2.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110748
AA Change: V858I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: V858I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IGc2	53	124	5.37e-4	SMART
IG	146	233	3.91e-6	SMART
IGc2	277	341	1.73e-16	SMART
IGc2	367	433	4.85e-11	SMART
IGc2	461	526	4.92e-12	SMART
IGc2	552	617	6.55e-8	SMART
FN3	631	714	3.24e-10	SMART
FN3	728	814	1.77e-2	SMART
FN3	830	921	1.97e-9	SMART
FN3	936	1021	3.73e-10	SMART
transmembrane domain	1050	1072	N/A	INTRINSIC
Pfam:Bravo_FIGEY	1073	1164	9.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220082

Predicted Effect

probably benign
Transcript: ENSMUST00000220123
AA Change: V874I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220130

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Targeted, other(4) Gene trapped(2) Chemically induced(1)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,495 (GRCm39)	W314R	probably benign	Het
Adgrv1	A	T	13: 81,255,194 (GRCm39)	V6143E	probably damaging	Het
Agap3	C	T	5: 24,682,815 (GRCm39)	T261I	probably damaging	Het
Ano6	T	C	15: 95,811,838 (GRCm39)	I241T	probably damaging	Het
Arhgef28	T	C	13: 98,076,051 (GRCm39)	T1328A	probably benign	Het
Capn10	C	T	1: 92,867,105 (GRCm39)	R112W	probably damaging	Het
Car5a	A	T	8: 122,666,560 (GRCm39)	W46R	probably damaging	Het
Cntn6	C	A	6: 104,810,064 (GRCm39)	T582K	possibly damaging	Het
Ctsh	T	C	9: 89,943,509 (GRCm39)	V60A	probably benign	Het
Ctsll3	A	G	13: 60,947,410 (GRCm39)	F259L	probably damaging	Het
Dennd2b	A	T	7: 109,156,478 (GRCm39)	C91S	possibly damaging	Het
Fam228a	T	C	12: 4,787,725 (GRCm39)	E16G	probably damaging	Het
G3bp2	A	G	5: 92,203,256 (GRCm39)	I388T	probably damaging	Het
Galnt5	A	T	2: 57,928,949 (GRCm39)	K926N	probably benign	Het
Gm10097	G	A	10: 5,019,485 (GRCm39)		probably benign	Het
Gm9978	T	A	10: 78,322,675 (GRCm39)		noncoding transcript	Het
Gria1	A	G	11: 57,080,559 (GRCm39)	T112A	probably benign	Het
Hnrnpk	A	C	13: 58,543,016 (GRCm39)	V134G	probably damaging	Het
Insr	A	G	8: 3,224,808 (GRCm39)	V220A	probably benign	Het
Lhx4	A	G	1: 155,586,023 (GRCm39)	I96T	probably damaging	Het
Lrp1	T	C	10: 127,419,745 (GRCm39)	T955A	possibly damaging	Het
Lrtm1	T	C	14: 28,743,787 (GRCm39)	V85A	possibly damaging	Het
Man2a2	T	C	7: 80,013,251 (GRCm39)	Y514C	probably damaging	Het
Npas1	T	A	7: 16,197,187 (GRCm39)	D226V	probably benign	Het
Or14c40	G	T	7: 86,313,684 (GRCm39)	L271F	probably benign	Het
Or5b108	T	A	19: 13,168,675 (GRCm39)	S215T	probably damaging	Het
Pde6b	G	T	5: 108,572,193 (GRCm39)	A478S	probably benign	Het
Pex1	T	A	5: 3,674,487 (GRCm39)	N789K	possibly damaging	Het
Plekha6	A	G	1: 133,187,839 (GRCm39)	D120G	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,110 (GRCm39)	T220A	probably benign	Het
Sdr39u1	A	T	14: 56,135,364 (GRCm39)	I193K	probably damaging	Het
Sec61a2	C	A	2: 5,891,368 (GRCm39)	M54I	probably benign	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sra1	C	T	18: 36,804,652 (GRCm39)		probably null	Het
Taf5	C	T	19: 47,070,334 (GRCm39)	S640L	probably damaging	Het
Tas2r140	T	A	6: 133,032,236 (GRCm39)	H174L	probably benign	Het
Tmem63a	T	A	1: 180,788,716 (GRCm39)	V351D	probably damaging	Het
Ttll7	C	T	3: 146,649,847 (GRCm39)	Q626*	probably null	Het
Ubn2	T	A	6: 38,440,917 (GRCm39)	V263E	possibly damaging	Het
Vmn2r106	C	T	17: 20,505,667 (GRCm39)	W9*	probably null	Het
Xrcc3	C	G	12: 111,774,406 (GRCm39)	C141S	probably null	Het
Zfp516	T	A	18: 82,974,958 (GRCm39)	D385E	probably damaging	Het

Other mutations in Nrcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Nrcam	APN	12	44,622,667 (GRCm39)	missense	probably benign	0.27
IGL01657:Nrcam	APN	12	44,606,583 (GRCm39)	missense	probably damaging	1.00
IGL02434:Nrcam	APN	12	44,637,026 (GRCm39)	splice site	probably benign
IGL02455:Nrcam	APN	12	44,617,313 (GRCm39)	missense	probably damaging	1.00
IGL02712:Nrcam	APN	12	44,620,610 (GRCm39)	missense	probably damaging	1.00
IGL02834:Nrcam	APN	12	44,587,858 (GRCm39)	critical splice donor site	probably null
IGL03022:Nrcam	APN	12	44,645,225 (GRCm39)	missense	probably damaging	1.00
IGL03174:Nrcam	APN	12	44,622,789 (GRCm39)	splice site	probably benign
IGL03389:Nrcam	APN	12	44,596,689 (GRCm39)	missense	probably benign	0.00
IGL03397:Nrcam	APN	12	44,606,540 (GRCm39)	missense	probably damaging	1.00
I2288:Nrcam	UTSW	12	44,611,098 (GRCm39)	missense	probably benign	0.06
I2289:Nrcam	UTSW	12	44,611,098 (GRCm39)	missense	probably benign	0.06
R0063:Nrcam	UTSW	12	44,596,811 (GRCm39)	missense	possibly damaging	0.49
R0063:Nrcam	UTSW	12	44,596,811 (GRCm39)	missense	possibly damaging	0.49
R0195:Nrcam	UTSW	12	44,631,628 (GRCm39)	missense	probably benign	0.00
R0463:Nrcam	UTSW	12	44,598,124 (GRCm39)	missense	probably damaging	1.00
R0590:Nrcam	UTSW	12	44,610,815 (GRCm39)	missense	probably damaging	1.00
R0674:Nrcam	UTSW	12	44,611,105 (GRCm39)	missense	probably benign	0.17
R0930:Nrcam	UTSW	12	44,596,667 (GRCm39)	missense	probably benign
R1241:Nrcam	UTSW	12	44,636,947 (GRCm39)	missense	probably damaging	1.00
R1279:Nrcam	UTSW	12	44,591,660 (GRCm39)	splice site	probably null
R1523:Nrcam	UTSW	12	44,619,032 (GRCm39)	missense	probably damaging	1.00
R1572:Nrcam	UTSW	12	44,584,147 (GRCm39)	splice site	probably benign
R1629:Nrcam	UTSW	12	44,610,769 (GRCm39)	missense	probably benign	0.00
R1651:Nrcam	UTSW	12	44,623,462 (GRCm39)	missense	probably damaging	0.97
R1729:Nrcam	UTSW	12	44,620,633 (GRCm39)	missense	probably benign
R1739:Nrcam	UTSW	12	44,618,458 (GRCm39)	missense	probably damaging	1.00
R1803:Nrcam	UTSW	12	44,618,991 (GRCm39)	missense	probably benign
R1884:Nrcam	UTSW	12	44,591,538 (GRCm39)	missense	probably damaging	1.00
R1974:Nrcam	UTSW	12	44,610,776 (GRCm39)	missense	probably benign	0.05
R1992:Nrcam	UTSW	12	44,587,753 (GRCm39)	missense	probably damaging	1.00
R2102:Nrcam	UTSW	12	44,623,471 (GRCm39)	missense	probably benign	0.00
R2106:Nrcam	UTSW	12	44,617,073 (GRCm39)	missense	probably benign	0.12
R3854:Nrcam	UTSW	12	44,622,667 (GRCm39)	missense	probably benign	0.27
R4005:Nrcam	UTSW	12	44,579,429 (GRCm39)	missense	probably benign
R4088:Nrcam	UTSW	12	44,618,985 (GRCm39)	missense	possibly damaging	0.93
R4115:Nrcam	UTSW	12	44,613,109 (GRCm39)	missense	possibly damaging	0.87
R4428:Nrcam	UTSW	12	44,623,558 (GRCm39)	missense	possibly damaging	0.95
R4458:Nrcam	UTSW	12	44,606,513 (GRCm39)	missense	probably damaging	1.00
R4580:Nrcam	UTSW	12	44,609,323 (GRCm39)	critical splice donor site	probably null
R4601:Nrcam	UTSW	12	44,637,839 (GRCm39)	missense	probably damaging	1.00
R4688:Nrcam	UTSW	12	44,594,020 (GRCm39)	missense	probably benign
R4825:Nrcam	UTSW	12	44,622,769 (GRCm39)	nonsense	probably null
R4838:Nrcam	UTSW	12	44,620,802 (GRCm39)	missense	probably damaging	1.00
R4950:Nrcam	UTSW	12	44,645,273 (GRCm39)	missense	probably damaging	1.00
R4960:Nrcam	UTSW	12	44,613,082 (GRCm39)	missense	probably benign	0.01
R5081:Nrcam	UTSW	12	44,617,136 (GRCm39)	missense	probably benign	0.00
R5297:Nrcam	UTSW	12	44,591,567 (GRCm39)	missense	probably damaging	1.00
R5504:Nrcam	UTSW	12	44,610,915 (GRCm39)	critical splice donor site	probably null
R5593:Nrcam	UTSW	12	44,606,483 (GRCm39)	missense	probably damaging	1.00
R5654:Nrcam	UTSW	12	44,610,841 (GRCm39)	missense	probably benign
R5691:Nrcam	UTSW	12	44,611,039 (GRCm39)	missense	probably damaging	1.00
R5890:Nrcam	UTSW	12	44,623,554 (GRCm39)	missense	probably benign
R5980:Nrcam	UTSW	12	44,618,416 (GRCm39)	missense	probably damaging	1.00
R6132:Nrcam	UTSW	12	44,617,007 (GRCm39)	missense	probably damaging	1.00
R6213:Nrcam	UTSW	12	44,609,215 (GRCm39)	missense	possibly damaging	0.90
R6334:Nrcam	UTSW	12	44,619,083 (GRCm39)	missense	probably benign
R6617:Nrcam	UTSW	12	44,587,746 (GRCm39)	missense	probably damaging	1.00
R6666:Nrcam	UTSW	12	44,618,338 (GRCm39)	missense	probably damaging	1.00
R7191:Nrcam	UTSW	12	44,619,027 (GRCm39)	missense	probably benign	0.01
R7284:Nrcam	UTSW	12	44,610,817 (GRCm39)	missense	probably damaging	1.00
R7326:Nrcam	UTSW	12	44,610,809 (GRCm39)	missense	possibly damaging	0.95
R7388:Nrcam	UTSW	12	44,645,272 (GRCm39)	missense	probably damaging	1.00
R7650:Nrcam	UTSW	12	44,594,105 (GRCm39)	missense	probably damaging	1.00
R7734:Nrcam	UTSW	12	44,584,034 (GRCm39)	missense	possibly damaging	0.49
R7757:Nrcam	UTSW	12	44,596,681 (GRCm39)	nonsense	probably null
R7840:Nrcam	UTSW	12	44,587,858 (GRCm39)	critical splice donor site	probably null
R7917:Nrcam	UTSW	12	44,620,546 (GRCm39)	splice site	probably null
R7935:Nrcam	UTSW	12	44,631,644 (GRCm39)	missense	possibly damaging	0.92
R7955:Nrcam	UTSW	12	44,631,737 (GRCm39)	missense	probably benign	0.26
R8117:Nrcam	UTSW	12	44,645,365 (GRCm39)	missense	probably damaging	1.00
R8117:Nrcam	UTSW	12	44,618,371 (GRCm39)	missense	probably benign	0.04
R8153:Nrcam	UTSW	12	44,631,755 (GRCm39)	missense	probably benign
R8189:Nrcam	UTSW	12	44,617,291 (GRCm39)	missense	possibly damaging	0.94
R8215:Nrcam	UTSW	12	44,610,896 (GRCm39)	missense	probably benign	0.02
R8719:Nrcam	UTSW	12	44,586,325 (GRCm39)	missense	probably benign
R8738:Nrcam	UTSW	12	44,619,075 (GRCm39)	missense	possibly damaging	0.67
R8794:Nrcam	UTSW	12	44,624,958 (GRCm39)	missense	probably benign	0.01
R8831:Nrcam	UTSW	12	44,591,680 (GRCm39)	critical splice donor site	probably null
R8858:Nrcam	UTSW	12	44,644,554 (GRCm39)	splice site	probably benign
R8885:Nrcam	UTSW	12	44,610,908 (GRCm39)	missense	probably benign	0.10
R8912:Nrcam	UTSW	12	44,645,366 (GRCm39)	missense	probably damaging	1.00
R9178:Nrcam	UTSW	12	44,615,329 (GRCm39)	missense	possibly damaging	0.69
R9243:Nrcam	UTSW	12	44,620,607 (GRCm39)	missense	probably damaging	1.00
R9257:Nrcam	UTSW	12	44,610,837 (GRCm39)	missense	probably benign	0.27
R9266:Nrcam	UTSW	12	44,636,917 (GRCm39)	missense	probably damaging	1.00
R9606:Nrcam	UTSW	12	44,609,240 (GRCm39)	missense	probably damaging	0.97
R9623:Nrcam	UTSW	12	44,636,931 (GRCm39)	missense	probably damaging	1.00
R9681:Nrcam	UTSW	12	44,598,133 (GRCm39)	missense	probably null	1.00
R9747:Nrcam	UTSW	12	44,645,192 (GRCm39)	missense	probably damaging	1.00
U24488:Nrcam	UTSW	12	44,584,042 (GRCm39)	missense	probably damaging	1.00
X0057:Nrcam	UTSW	12	44,598,199 (GRCm39)	missense	probably benign
X0066:Nrcam	UTSW	12	44,596,812 (GRCm39)	missense	probably benign	0.00
Z1176:Nrcam	UTSW	12	44,618,353 (GRCm39)	missense	probably damaging	1.00
Z1177:Nrcam	UTSW	12	44,620,799 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATGTGCTTCAAGCCAAAG -3'
(R):5'- TCAAGTCAATTGTAGCTGGGTTC -3'

Sequencing Primer
(F):5'- TGTGCTTCAAGCCAAAGTTATTG -3'
(R):5'- TGTGACTGGGAGCAGTGAG -3'

Posted On

2017-02-28