Mutagenetix > Incidental Mutations

Incidental Mutation 'R1803:Nrcam'

203314

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C030017F07Rik, Bravo, C130076O07Rik

MMRRC Submission

039833-MU

Accession Numbers

Genbank: NM_176930.4, NM_001146031.1,

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44328885-44601964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44572208 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 846 (M846K)

Ref Sequence

ENSEMBL: ENSMUSP00000151844 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020939
AA Change: M840K

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

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: M840K

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: M830K

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

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: M830K

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: M846K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220130

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,627,666		probably benign	Het
9330182L06Rik	A	G	5: 9,427,832	H410R	probably benign	Het
Adgrl3	C	T	5: 81,771,617	R586*	probably null	Het
Arpp21	T	C	9: 112,127,398	T471A	possibly damaging	Het
Blnk	T	C	19: 40,952,377	E194G	probably damaging	Het
Cd44	G	A	2: 102,834,252	P332S	probably damaging	Het
Cd47	T	C	16: 49,867,806	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,331,281	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,517,471	M332L	probably damaging	Het
Cul9	A	G	17: 46,503,097	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,835,546		probably null	Het
Dcp2	T	C	18: 44,395,917	I33T	probably damaging	Het
Ddx52	A	T	11: 83,946,132	I150L	probably damaging	Het
Ddx58	A	G	4: 40,224,013	S289P	probably benign	Het
Dennd5a	T	A	7: 109,898,613	T1067S	probably benign	Het
Dnpep	A	T	1: 75,309,414	L419*	probably null	Het
Dock8	A	G	19: 25,132,235	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020	V475E	possibly damaging	Het
Edf1	C	T	2: 25,560,194	S41F	probably damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha3	T	C	16: 63,602,288	K579E	probably benign	Het
Exoc1	A	G	5: 76,561,441	N23S	probably benign	Het
Fam212a	A	G	9: 107,984,739	V128A	probably benign	Het
Flt3	C	A	5: 147,367,055	E358*	probably null	Het
Fzd1	A	T	5: 4,756,385	I399K	probably damaging	Het
Gdi2	T	A	13: 3,564,547	Y333*	probably null	Het
Gm10479	A	G	12: 20,433,653	H91R	probably benign	Het
Gm10842	G	A	11: 105,147,041	R50K	unknown	Het
Grin2c	A	T	11: 115,260,732		probably null	Het
Grk2	C	T	19: 4,294,883	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,285,871	M104I	probably benign	Het
Hyou1	C	T	9: 44,384,182	Q290*	probably null	Het
Itgb2	T	C	10: 77,564,790	S746P	probably benign	Het
Jmjd7	C	T	2: 120,030,108	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klhl2	T	C	8: 64,759,797	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,884,991	G26C	unknown	Het
Krtap4-16	G	A	11: 99,851,172	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,488,099	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,835,130	T38M	probably benign	Het
Mfsd10	A	T	5: 34,636,750	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,179,233	G91*	probably null	Het
Mns1	A	T	9: 72,452,734	I389F	probably damaging	Het
Morc1	A	T	16: 48,622,638	T829S	probably benign	Het
Morn5	T	A	2: 36,053,077	V63E	probably benign	Het
Mybpc1	T	C	10: 88,553,295	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,228,846	M188K	probably damaging	Het
Nup210	A	C	6: 91,074,282	F373C	probably damaging	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Olfr1465	A	T	19: 13,314,171	V38E	possibly damaging	Het
Olfr830	T	C	9: 18,876,080	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,275,049	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,222,381	I517N	probably benign	Het
Plin4	G	T	17: 56,104,931	T700K	probably damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Prdm16	A	T	4: 154,335,261	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410		probably null	Het
Rcan2	G	T	17: 44,037,033	C211F	probably damaging	Het
Rxfp1	C	T	3: 79,737,769	C9Y	probably benign	Het
Scn2a	G	A	2: 65,670,767		probably null	Het
Scnn1a	A	C	6: 125,332,194	R264S	probably damaging	Het
Sema4g	T	C	19: 44,998,020	V345A	probably benign	Het
Sgo2b	T	A	8: 63,927,392	D802V	probably benign	Het
Slc25a21	G	A	12: 56,858,087	T54I	probably benign	Het
Slc25a46	C	T	18: 31,594,588	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,102,697	I171V	probably benign	Het
Slc7a6	T	C	8: 106,192,456	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,387,006	V1248E	probably damaging	Het
Sort1	C	A	3: 108,325,699	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,418,583	T357M	probably damaging	Het
Srrm3	T	A	5: 135,857,129	W308R	probably damaging	Het
Stard9	A	T	2: 120,701,489	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,032,248	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tff1	A	T	17: 31,161,586	C85*	probably null	Het
Tlr11	C	T	14: 50,360,647	T30I	probably benign	Het
Trio	T	C	15: 27,748,340	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,407,002	M338V	possibly damaging	Het
Umod	T	A	7: 119,464,724	S620C	probably damaging	Het
Ust	C	A	10: 8,298,055		probably null	Het
Vmn1r176	A	T	7: 23,835,184	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,502,143	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,804,911	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,205	Y286*	probably null	Het
Zfp579	G	A	7: 4,993,770	R381C	probably damaging	Het
Zfp85	A	G	13: 67,751,628	S71P	probably benign	Het
Zfyve16	A	T	13: 92,504,085	V1254E	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
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
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
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'- CAAATCCAGAGCTTGAGGGTGG -3'
(R):5'- CTATATGTGGCGAGTGGTCCTC -3'

Sequencing Primer
(F):5'- GTGAAAGTTTGCAGTATCAAAGTTGC -3'
(R):5'- TCACCATGGCCCTGCTACTAAG -3'

Posted On

2014-06-23