Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Nrcam'

381932

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C030017F07Rik, Bravo, C130076O07Rik

MMRRC Submission

042547-MU

Accession Numbers

Genbank: NM_176930.4, NM_001146031.1,

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44328885-44601964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44598490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1155 (I1155T)

Ref Sequence

ENSEMBL: ENSMUSP00000106376 (fasta)

Gene Model

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

AlphaFold

Q810U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020939
AA Change: I1225T

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

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: I1225T

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: I1155T

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

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: I1155T

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

noncoding transcript
Transcript: ENSMUST00000217796

Predicted Effect

unknown
Transcript: ENSMUST00000218062
AA Change: I136T

Predicted Effect

unknown
Transcript: ENSMUST00000220082
AA Change: I188T

Predicted Effect

probably benign
Transcript: ENSMUST00000220123

Meta Mutation Damage Score

0.4819

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	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	splice site	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
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
R7191:Nrcam	UTSW	12	44572244	missense	probably benign	0.01
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
R7757:Nrcam	UTSW	12	44549898	nonsense	probably null
R7840:Nrcam	UTSW	12	44541075	critical splice donor site	probably null
R7917:Nrcam	UTSW	12	44573763	splice site	probably null
R7935:Nrcam	UTSW	12	44584861	missense	possibly damaging	0.92
R7955:Nrcam	UTSW	12	44584954	missense	probably benign	0.26
R8117:Nrcam	UTSW	12	44571588	missense	probably benign	0.04
R8117:Nrcam	UTSW	12	44598582	missense	probably damaging	1.00
R8153:Nrcam	UTSW	12	44584972	missense	probably benign
R8189:Nrcam	UTSW	12	44570508	missense	possibly damaging	0.94
R8215:Nrcam	UTSW	12	44564113	missense	probably benign	0.02
R8719:Nrcam	UTSW	12	44539542	missense	probably benign
R8738:Nrcam	UTSW	12	44572292	missense	possibly damaging	0.67
R8794:Nrcam	UTSW	12	44578175	missense	probably benign	0.01
R8831:Nrcam	UTSW	12	44544897	critical splice donor site	probably null
R8858:Nrcam	UTSW	12	44597771	splice site	probably benign
R8885:Nrcam	UTSW	12	44564125	missense	probably benign	0.10
R8912:Nrcam	UTSW	12	44598583	missense	probably damaging	1.00
R9178:Nrcam	UTSW	12	44568546	missense	possibly damaging	0.69
R9243:Nrcam	UTSW	12	44573824	missense	probably damaging	1.00
R9257:Nrcam	UTSW	12	44564054	missense	probably benign	0.27
R9266:Nrcam	UTSW	12	44590134	missense	probably damaging	1.00
R9606:Nrcam	UTSW	12	44562457	missense	probably damaging	0.97
R9623:Nrcam	UTSW	12	44590148	missense	probably damaging	1.00
R9681:Nrcam	UTSW	12	44551350	missense	probably null	1.00
R9747:Nrcam	UTSW	12	44598409	missense	probably damaging	1.00
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'- AGGCGCTTTACTTAAATGCTTG -3'
(R):5'- TACCGCAGAAAACATTCTTTCTACC -3'

Sequencing Primer
(F):5'- GCGCTTTACTTAAATGCTTGTCTTAC -3'
(R):5'- CCCATATGTCCGTAGTATGAGAG -3'

Posted On

2016-04-27