Mutagenetix > Incidental Mutations

Incidental Mutation 'R7191:Nrcam'

559612

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C030017F07Rik, Bravo, C130076O07Rik

MMRRC Submission

Accession Numbers

Genbank: NM_176930.4, NM_001146031.1,

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44328885-44601964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44572244 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 852 (N852S)

Ref Sequence

ENSEMBL: ENSMUSP00000020939 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020939
AA Change: N852S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: N852S

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: N842S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: N842S

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: N858S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.1281

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,653,564	I129F	probably benign	Het
Ank2	T	A	3: 126,946,392	T1948S	unknown	Het
Arap1	T	C	7: 101,384,992	C214R	probably benign	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc82	C	T	9: 13,252,472	Q130*	probably null	Het
Cfh	A	C	1: 140,112,567	V597G	probably benign	Het
Clp1	A	T	2: 84,724,146	C226*	probably null	Het
Cyp39a1	G	A	17: 43,731,019	W372*	probably null	Het
Dchs1	G	A	7: 105,765,439	P799S	possibly damaging	Het
Dmbt1	A	T	7: 131,044,520	N167I	unknown	Het
Dock10	A	G	1: 80,540,331	S1310P	possibly damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Fras1	A	G	5: 96,614,912	T758A	probably benign	Het
Fryl	T	C	5: 73,072,912	H1634R	probably damaging	Het
Gcg	C	G	2: 62,476,839	G126A	probably damaging	Het
Gm4763	C	T	7: 24,723,334	V105I	possibly damaging	Het
Gm4951	A	T	18: 60,246,257	D288V	probably benign	Het
Gne	T	C	4: 44,040,266	K633E	probably benign	Het
Gpr4	T	C	7: 19,223,230	V359A	probably benign	Het
Gprc5c	C	T	11: 114,868,617	T422M	possibly damaging	Het
Gria2	C	A	3: 80,732,085	V207L	probably benign	Het
Hid1	T	C	11: 115,348,469	*789W	probably null	Het
Jakmip3	G	A	7: 138,989,528		probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Krt16	T	C	11: 100,246,658	E407G	probably damaging	Het
Krt81	T	C	15: 101,460,229	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,624,878	G357S	possibly damaging	Het
Mipol1	A	G	12: 57,457,066	Q340R	probably benign	Het
Mpzl3	T	G	9: 45,055,244	M1R	probably null	Het
Nudcd2	C	T	11: 40,736,603	Q117*	probably null	Het
Nup35	A	T	2: 80,658,379	E320V	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr477	G	A	7: 107,990,646	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,558,719	H668R	probably benign	Het
Ptprc	T	A	1: 138,101,044	D333V	probably benign	Het
Rdh16	A	G	10: 127,813,418	K248E	probably benign	Het
Samd4b	C	A	7: 28,414,261	G93V	probably benign	Het
Scgn	A	G	13: 23,981,493	I78T	probably benign	Het
Slfn14	T	C	11: 83,276,749	I647V	probably benign	Het
Smyd5	T	C	6: 85,440,111	V157A	probably benign	Het
Syde2	T	C	3: 146,002,358	M951T	probably benign	Het
Tas2r105	T	C	6: 131,686,982	N161S	probably damaging	Het
Tbck	T	C	3: 132,737,555	F581L	probably damaging	Het
Traip	A	G	9: 107,970,017	N352D	probably benign	Het
Trim29	A	G	9: 43,311,609	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,633,140	I443V	probably benign	Het
Usp36	C	T	11: 118,268,834	E595K	probably benign	Het
Vmn2r51	T	A	7: 10,100,553	Y186F	probably null	Het
Vmn2r97	A	G	17: 18,930,286	Y465C	probably damaging	Het
Wrb	A	G	16: 96,151,945	I79V	possibly damaging	Het
Zfp277	A	T	12: 40,329,562	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,121,903	D17G	probably damaging	Het

Other mutations in Nrcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Nrcam	APN	12	44575884	missense	probably benign	0.27
IGL01657:Nrcam	APN	12	44559800	missense	probably damaging	1.00
IGL02434:Nrcam	APN	12	44590243	splice site	probably benign
IGL02455:Nrcam	APN	12	44570530	missense	probably damaging	1.00
IGL02712:Nrcam	APN	12	44573827	missense	probably damaging	1.00
IGL02834:Nrcam	APN	12	44541075	critical splice donor site	probably null
IGL03022:Nrcam	APN	12	44598442	missense	probably damaging	1.00
IGL03174:Nrcam	APN	12	44576006	splice site	probably benign
IGL03389:Nrcam	APN	12	44549906	missense	probably benign	0.00
IGL03397:Nrcam	APN	12	44559757	missense	probably damaging	1.00
I2288:Nrcam	UTSW	12	44564315	missense	probably benign	0.06
I2289:Nrcam	UTSW	12	44564315	missense	probably benign	0.06
R0063:Nrcam	UTSW	12	44550028	missense	possibly damaging	0.49
R0063:Nrcam	UTSW	12	44550028	missense	possibly damaging	0.49
R0195:Nrcam	UTSW	12	44584845	missense	probably benign	0.00
R0463:Nrcam	UTSW	12	44551341	missense	probably damaging	1.00
R0590:Nrcam	UTSW	12	44564032	missense	probably damaging	1.00
R0674:Nrcam	UTSW	12	44564322	missense	probably benign	0.17
R0930:Nrcam	UTSW	12	44549884	missense	probably benign
R1241:Nrcam	UTSW	12	44590164	missense	probably damaging	1.00
R1279:Nrcam	UTSW	12	44544877	unclassified	probably null
R1523:Nrcam	UTSW	12	44572249	missense	probably damaging	1.00
R1572:Nrcam	UTSW	12	44537364	splice site	probably benign
R1629:Nrcam	UTSW	12	44563986	missense	probably benign	0.00
R1651:Nrcam	UTSW	12	44576679	missense	probably damaging	0.97
R1729:Nrcam	UTSW	12	44573850	missense	probably benign
R1739:Nrcam	UTSW	12	44571675	missense	probably damaging	1.00
R1803:Nrcam	UTSW	12	44572208	missense	probably benign
R1884:Nrcam	UTSW	12	44544755	missense	probably damaging	1.00
R1974:Nrcam	UTSW	12	44563993	missense	probably benign	0.05
R1992:Nrcam	UTSW	12	44540970	missense	probably damaging	1.00
R2102:Nrcam	UTSW	12	44576688	missense	probably benign	0.00
R2106:Nrcam	UTSW	12	44570290	missense	probably benign	0.12
R3854:Nrcam	UTSW	12	44575884	missense	probably benign	0.27
R4005:Nrcam	UTSW	12	44532646	missense	probably benign
R4088:Nrcam	UTSW	12	44572202	missense	possibly damaging	0.93
R4115:Nrcam	UTSW	12	44566326	missense	possibly damaging	0.87
R4428:Nrcam	UTSW	12	44576775	missense	possibly damaging	0.95
R4458:Nrcam	UTSW	12	44559730	missense	probably damaging	1.00
R4580:Nrcam	UTSW	12	44562540	critical splice donor site	probably null
R4601:Nrcam	UTSW	12	44591056	missense	probably damaging	1.00
R4688:Nrcam	UTSW	12	44547237	missense	probably benign
R4825:Nrcam	UTSW	12	44575986	nonsense	probably null
R4838:Nrcam	UTSW	12	44574019	missense	probably damaging	1.00
R4950:Nrcam	UTSW	12	44598490	missense	probably damaging	1.00
R4960:Nrcam	UTSW	12	44566299	missense	probably benign	0.01
R5081:Nrcam	UTSW	12	44570353	missense	probably benign	0.00
R5297:Nrcam	UTSW	12	44544784	missense	probably damaging	1.00
R5504:Nrcam	UTSW	12	44564132	critical splice donor site	probably null
R5593:Nrcam	UTSW	12	44559700	missense	probably damaging	1.00
R5654:Nrcam	UTSW	12	44564058	missense	probably benign
R5691:Nrcam	UTSW	12	44564256	missense	probably damaging	1.00
R5890:Nrcam	UTSW	12	44576771	missense	probably benign
R5937:Nrcam	UTSW	12	44572291	missense	probably benign	0.00
R5980:Nrcam	UTSW	12	44571633	missense	probably damaging	1.00
R6132:Nrcam	UTSW	12	44570224	missense	probably damaging	1.00
R6213:Nrcam	UTSW	12	44562432	missense	possibly damaging	0.90
R6334:Nrcam	UTSW	12	44572300	missense	probably benign
R6617:Nrcam	UTSW	12	44540963	missense	probably damaging	1.00
R6666:Nrcam	UTSW	12	44571555	missense	probably damaging	1.00
R7284:Nrcam	UTSW	12	44564034	missense	probably damaging	1.00
R7326:Nrcam	UTSW	12	44564026	missense	possibly damaging	0.95
R7388:Nrcam	UTSW	12	44598489	missense	probably damaging	1.00
R7650:Nrcam	UTSW	12	44547322	missense	probably damaging	1.00
R7734:Nrcam	UTSW	12	44537251	missense	possibly damaging	0.49
R7840:Nrcam	UTSW	12	44541075	critical splice donor site	probably null
R7923:Nrcam	UTSW	12	44541075	critical splice donor site	probably null
U24488:Nrcam	UTSW	12	44537259	missense	probably damaging	1.00
X0057:Nrcam	UTSW	12	44551416	missense	probably benign
X0066:Nrcam	UTSW	12	44550029	missense	probably benign	0.00
Z1176:Nrcam	UTSW	12	44571570	missense	probably damaging	1.00
Z1177:Nrcam	UTSW	12	44574016	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCCAGAGCTTGAGGGTGG -3'
(R):5'- GAAGTCCTAAATGCAAACACGG -3'

Sequencing Primer
(F):5'- GTGCCAAAAGGACAAGACTCTCTG -3'
(R):5'- ACGGACAAACCACATCATTTC -3'

Posted On

2019-06-26