Mutagenetix > Incidental Mutation

Incidental Mutation 'R6666:Nrcam'

526986

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C130076O07Rik, C030017F07Rik, Bravo

MMRRC Submission

044786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6666 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44375668-44648747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44618338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 782 (Y782C)

Ref Sequence

ENSEMBL: ENSMUSP00000151844 (fasta)

Gene Model

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

AlphaFold

Q810U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020939
AA Change: Y776C

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

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: Y776C

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 damaging
Transcript: ENSMUST00000110748
AA Change: Y766C

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

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: Y766C

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 damaging
Transcript: ENSMUST00000220123
AA Change: Y782C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220130

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	C	A	10: 21,469,228 (GRCm39)		probably null	Het
Arhgap24	A	G	5: 102,700,163 (GRCm39)		probably null	Het
Atp12a	G	T	14: 56,610,821 (GRCm39)	V322L	probably benign	Het
Capza1	A	C	3: 104,735,922 (GRCm39)		probably null	Het
Cela3a	A	T	4: 137,131,175 (GRCm39)	S188T	probably benign	Het
Cplx1	G	T	5: 108,668,031 (GRCm39)	Y123*	probably null	Het
Ddias	A	T	7: 92,507,289 (GRCm39)	D875E	probably benign	Het
Dnah3	T	C	7: 119,670,172 (GRCm39)	E715G	probably benign	Het
Fam83e	A	G	7: 45,376,426 (GRCm39)	T380A	probably benign	Het
Fancd2	T	C	6: 113,562,470 (GRCm39)	V1270A	probably damaging	Het
Foxh1	A	G	15: 76,552,613 (GRCm39)	F367S	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gprc5a	A	G	6: 135,056,473 (GRCm39)	I307V	probably benign	Het
Gtpbp3	A	G	8: 71,943,582 (GRCm39)	D212G	possibly damaging	Het
Helb	A	G	10: 119,920,856 (GRCm39)	V1029A	probably damaging	Het
Il22ra1	A	T	4: 135,477,772 (GRCm39)	H281L	probably damaging	Het
Il2rb	TAGTCA	TAGTCAGTCA	15: 78,366,034 (GRCm39)		probably null	Het
Itga3	T	C	11: 94,956,652 (GRCm39)	T170A	probably benign	Het
Kdm3a	T	C	6: 71,588,974 (GRCm39)	E345G	probably benign	Het
Kif11	T	C	19: 37,398,214 (GRCm39)	I680T	probably benign	Het
Klhl28	C	T	12: 64,990,301 (GRCm39)	D547N	probably benign	Het
Limk2	T	A	11: 3,310,493 (GRCm39)	E49D	probably damaging	Het
Lmbrd2	T	A	15: 9,151,656 (GRCm39)	F120I	probably benign	Het
Mefv	T	A	16: 3,525,862 (GRCm39)	N802Y	possibly damaging	Het
Ms4a2	C	T	19: 11,595,787 (GRCm39)	S168N	probably benign	Het
Myct1	T	C	10: 5,554,333 (GRCm39)	S67P	probably damaging	Het
Myh4	A	G	11: 67,142,638 (GRCm39)	E933G	probably damaging	Het
Naif1	C	A	2: 32,344,863 (GRCm39)	T189K	probably damaging	Het
Nppb	A	G	4: 148,070,463 (GRCm39)	I11V	probably benign	Het
Nr3c1	T	C	18: 39,620,200 (GRCm39)	D29G	probably damaging	Het
Or1af1	A	T	2: 37,110,331 (GRCm39)	I277F	probably damaging	Het
Or51e1	T	C	7: 102,359,135 (GRCm39)		probably null	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Parp1	A	G	1: 180,413,516 (GRCm39)	T375A	probably benign	Het
Pcdhgb1	G	T	18: 37,814,546 (GRCm39)	E346*	probably null	Het
Pds5b	G	T	5: 150,701,631 (GRCm39)	S754I	probably damaging	Het
Scnn1g	G	A	7: 121,366,611 (GRCm39)	D603N	probably benign	Het
Slitrk5	A	G	14: 111,917,534 (GRCm39)	D386G	probably damaging	Het
Trmt1	T	C	8: 85,425,083 (GRCm39)	L493P	probably damaging	Het
Vrk1	A	G	12: 106,024,910 (GRCm39)	E262G	probably damaging	Het
Wfs1	T	C	5: 37,124,963 (GRCm39)	T567A	possibly damaging	Het
Zbtb11	A	T	16: 55,826,615 (GRCm39)	K846I	probably damaging	Het
Zfp318	A	G	17: 46,720,140 (GRCm39)	T1113A	probably benign	Het
Zfp654	A	T	16: 64,606,596 (GRCm39)	S535R	probably benign	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
R5937:Nrcam	UTSW	12	44,619,074 (GRCm39)	missense	probably benign	0.00
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
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'- ATCCGACTCTGGATCTCATCAC -3'
(R):5'- ACTTACGGTCTTCTCCAGAATGC -3'

Sequencing Primer
(F):5'- CGACTCTGGATCTCATCACAATTGAG -3'
(R):5'- GAATGCCCCATGACTGCAG -3'

Posted On

2018-07-23