Mutagenetix > Incidental Mutation

Incidental Mutation 'R7191:Nrcam'

559612

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C130076O07Rik, C030017F07Rik, Bravo

MMRRC Submission

045274-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7191 (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 44619027 bp (GRCm39)

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]

AlphaFold

Q810U4

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: 21,472,314 (GRCm39)	I129F	probably benign	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Ank2	T	A	3: 126,740,041 (GRCm39)	T1948S	unknown	Het
Arap1	T	C	7: 101,034,199 (GRCm39)	C214R	probably benign	Het
Ccdc82	C	T	9: 13,252,097 (GRCm39)	Q130*	probably null	Het
Cfh	A	C	1: 140,040,305 (GRCm39)	V597G	probably benign	Het
Clp1	A	T	2: 84,554,490 (GRCm39)	C226*	probably null	Het
Cyp39a1	G	A	17: 44,041,910 (GRCm39)	W372*	probably null	Het
Dchs1	G	A	7: 105,414,646 (GRCm39)	P799S	possibly damaging	Het
Dmbt1	A	T	7: 130,646,250 (GRCm39)	N167I	unknown	Het
Dock10	A	G	1: 80,518,048 (GRCm39)	S1310P	possibly damaging	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Fras1	A	G	5: 96,762,771 (GRCm39)	T758A	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gcg	C	G	2: 62,307,183 (GRCm39)	G126A	probably damaging	Het
Get1	A	G	16: 95,953,145 (GRCm39)	I79V	possibly damaging	Het
Gne	T	C	4: 44,040,266 (GRCm39)	K633E	probably benign	Het
Gpr4	T	C	7: 18,957,155 (GRCm39)	V359A	probably benign	Het
Gprc5c	C	T	11: 114,759,443 (GRCm39)	T422M	possibly damaging	Het
Gria2	C	A	3: 80,639,392 (GRCm39)	V207L	probably benign	Het
Hid1	T	C	11: 115,239,295 (GRCm39)	*789W	probably null	Het
Iigp1c	A	T	18: 60,379,329 (GRCm39)	D288V	probably benign	Het
Jakmip3	G	A	7: 138,591,257 (GRCm39)		probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Krt16	T	C	11: 100,137,484 (GRCm39)	E407G	probably damaging	Het
Krt81	T	C	15: 101,358,110 (GRCm39)	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,679,027 (GRCm39)	G357S	possibly damaging	Het
Lypd11	C	T	7: 24,422,759 (GRCm39)	V105I	possibly damaging	Het
Mipol1	A	G	12: 57,503,852 (GRCm39)	Q340R	probably benign	Het
Mpzl3	T	G	9: 44,966,542 (GRCm39)	M1R	probably null	Het
Nudcd2	C	T	11: 40,627,430 (GRCm39)	Q117*	probably null	Het
Nup35	A	T	2: 80,488,723 (GRCm39)	E320V	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or5p56	G	A	7: 107,589,853 (GRCm39)	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,628,943 (GRCm39)	H668R	probably benign	Het
Ptprc	T	A	1: 138,028,782 (GRCm39)	D333V	probably benign	Het
Rdh16	A	G	10: 127,649,287 (GRCm39)	K248E	probably benign	Het
Samd4b	C	A	7: 28,113,686 (GRCm39)	G93V	probably benign	Het
Scgn	A	G	13: 24,165,476 (GRCm39)	I78T	probably benign	Het
Slfn14	T	C	11: 83,167,575 (GRCm39)	I647V	probably benign	Het
Smyd5	T	C	6: 85,417,093 (GRCm39)	V157A	probably benign	Het
Syde2	T	C	3: 145,708,113 (GRCm39)	M951T	probably benign	Het
Tas2r105	T	C	6: 131,663,945 (GRCm39)	N161S	probably damaging	Het
Tbck	T	C	3: 132,443,316 (GRCm39)	F581L	probably damaging	Het
Traip	A	G	9: 107,847,216 (GRCm39)	N352D	probably benign	Het
Trim29	A	G	9: 43,222,906 (GRCm39)	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,771,201 (GRCm39)	I443V	probably benign	Het
Usp36	C	T	11: 118,159,660 (GRCm39)	E595K	probably benign	Het
Vmn2r51	T	A	7: 9,834,480 (GRCm39)	Y186F	probably null	Het
Vmn2r97	A	G	17: 19,150,548 (GRCm39)	Y465C	probably damaging	Het
Zfp277	A	T	12: 40,379,561 (GRCm39)	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,058,473 (GRCm39)	D17G	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
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
R6666:Nrcam	UTSW	12	44,618,338 (GRCm39)	missense	probably damaging	1.00
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'- AATCCAGAGCTTGAGGGTGG -3'
(R):5'- GAAGTCCTAAATGCAAACACGG -3'

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

Posted On

2019-06-26