Incidental Mutation 'U24488:Nrcam'
ID 509889
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44584042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 39 (P39S)
Ref Sequence ENSEMBL: ENSMUSP00000151296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000217907] [ENSMUST00000218431] [ENSMUST00000218540] [ENSMUST00000220123] [ENSMUST00000220126] [ENSMUST00000219939]
AlphaFold Q810U4
Predicted Effect probably damaging
Transcript: ENSMUST00000020939
AA Change: P39S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: P39S

DomainStartEndE-ValueType
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: P39S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: P39S

DomainStartEndE-ValueType
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: ENSMUST00000217907
Predicted Effect probably damaging
Transcript: ENSMUST00000218431
AA Change: P45S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218540
AA Change: P39S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219592
Predicted Effect probably damaging
Transcript: ENSMUST00000220123
AA Change: P45S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220126
AA Change: P39S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Predicted Effect probably benign
Transcript: ENSMUST00000219939
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Nrcam
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 44,618,371 (GRCm39) missense probably benign 0.04
R8117:Nrcam UTSW 12 44,645,365 (GRCm39) missense probably damaging 1.00
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
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'- TGTTACCAAAGGGAAGTTGTGTC -3'
(R):5'- GTATTCAGAGAGATGGCCGAC -3'

Sequencing Primer
(F):5'- TACCAAAGGGAAGTTGTGTCTTGAC -3'
(R):5'- TCAGAGAGATGGCCGACTACTTTC -3'
Posted On 2018-04-02