Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Nrcam'

481396

Institutional Source

Beutler Lab

Gene Symbol

Nrcam

Ensembl Gene

ENSMUSG00000020598

Gene Name

neuronal cell adhesion molecule

Synonyms

C130076O07Rik, C030017F07Rik, Bravo

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44375668-44648747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44618416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 808 (V808A)

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: V802A

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

SMART Domains

Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: V802A

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: V792A

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

SMART Domains

Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: V792A

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 damaging
Transcript: ENSMUST00000220123
AA Change: V808A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220130

Meta Mutation Damage Score

0.7796

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

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
A2ml1	T	C	6: 128,544,018 (GRCm39)	N508D	possibly damaging	Het
Ago1	C	T	4: 126,354,362 (GRCm39)		probably benign	Het
Apol6	A	T	15: 76,935,219 (GRCm39)	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,247,095 (GRCm39)	T33A	probably benign	Het
Atg7	C	A	6: 114,657,197 (GRCm39)	F132L	possibly damaging	Het
Cep104	C	A	4: 154,072,930 (GRCm39)	A396E	probably benign	Het
Cers4	T	A	8: 4,568,269 (GRCm39)	C107*	probably null	Het
Cntn6	T	C	6: 104,825,093 (GRCm39)	S878P	probably damaging	Het
Dnah6	T	C	6: 73,158,705 (GRCm39)	K633E	probably benign	Het
Dst	T	A	1: 34,221,972 (GRCm39)	I2592K	probably benign	Het
Ep400	G	A	5: 110,881,595 (GRCm39)		probably benign	Het
Fbn1	A	G	2: 125,157,324 (GRCm39)	C2320R	probably damaging	Het
Gpi1	A	G	7: 33,928,351 (GRCm39)		probably null	Het
Gse1	T	G	8: 120,956,376 (GRCm39)		probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,315,295 (GRCm39)	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,657,573 (GRCm39)	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,496,009 (GRCm39)	V5A	probably benign	Het
Irgq	G	A	7: 24,232,770 (GRCm39)	G204S	probably damaging	Het
Kansl1	T	C	11: 104,234,463 (GRCm39)	K681R	possibly damaging	Het
Kcnv1	C	A	15: 44,972,810 (GRCm39)	V358L	probably damaging	Het
Lrp2	A	T	2: 69,365,349 (GRCm39)	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,045,219 (GRCm39)	D155V	probably damaging	Het
Magel2	A	T	7: 62,030,344 (GRCm39)	I1083F	unknown	Het
Mta3	T	A	17: 84,015,834 (GRCm39)	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,494,977 (GRCm39)	I423T	probably damaging	Het
Mup11	A	G	4: 60,616,887 (GRCm39)	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,804,889 (GRCm39)	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509 (GRCm38)	Q72P	possibly damaging	Het
Nol4	T	A	18: 23,085,258 (GRCm39)	Q52L	probably damaging	Het
Or10p22	A	G	10: 128,826,309 (GRCm39)	H176R	probably damaging	Het
Or5ak23	A	T	2: 85,244,509 (GRCm39)	F238Y	probably damaging	Het
Or8k24	A	T	2: 86,216,141 (GRCm39)	L207*	probably null	Het
Pate10	A	C	9: 35,652,911 (GRCm39)	D51A	probably damaging	Het
Pik3c2b	C	A	1: 133,016,046 (GRCm39)	D869E	probably benign	Het
Pom121l2	T	C	13: 22,167,546 (GRCm39)	S606P	probably damaging	Het
Prdm15	G	A	16: 97,613,770 (GRCm39)	R517*	probably null	Het
Ralgapa1	T	A	12: 55,817,401 (GRCm39)		probably null	Het
Saraf	T	A	8: 34,632,541 (GRCm39)	F207I	probably benign	Het
Sema6d	A	G	2: 124,506,628 (GRCm39)	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,190,411 (GRCm39)	L14M	unknown	Het
Sidt1	A	T	16: 44,083,675 (GRCm39)	C485*	probably null	Het
Sptbn4	A	G	7: 27,071,596 (GRCm39)	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,662,716 (GRCm39)	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Ticrr	G	A	7: 79,310,703 (GRCm39)	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,861,662 (GRCm39)	I820F	probably benign	Het
Trafd1	A	G	5: 121,511,520 (GRCm39)	Y433H	probably damaging	Het
Trim68	A	G	7: 102,328,038 (GRCm39)	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,514,480 (GRCm39)	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,626 (GRCm39)	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,661,624 (GRCm39)	I457V	probably benign	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
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'- AGACGTGGGCATTTAAGAGCTTAG -3'
(R):5'- TATACCTTGGGAGCTCTGTCC -3'

Sequencing Primer
(F):5'- AGGAACTGGACTTGCTATTCC -3'
(R):5'- GCTCTGTCCATCTAGACAAGAGTAG -3'

Posted On

2017-06-26