Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Nrcam'

443697

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C130076O07Rik, C030017F07Rik, Bravo

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44375668-44648747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44611039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 554 (Y554H)

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: Y548H

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

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: Y548H

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: Y548H

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: Y548H

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: ENSMUST00000219906

Predicted Effect

probably damaging
Transcript: ENSMUST00000220123
AA Change: Y554H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220130

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
Or8h9	A	T	2: 86,789,616 (GRCm39)	F62Y	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Phpt1	T	C	2: 25,463,707 (GRCm39)	Y96C	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Setd3	A	T	12: 108,126,544 (GRCm39)	M98K	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tespa1	T	A	10: 130,190,638 (GRCm39)		probably null	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	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
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
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'- AATTCCCGTGGCCCAAAAGG -3'
(R):5'- GCCTTTGACCAAGAGCAGTG -3'

Sequencing Primer
(F):5'- CTTGTGTCGCACGGAATAAAC -3'
(R):5'- CCTTTGACCAAGAGCAGTGTATAG -3'

Posted On

2016-11-09