Incidental Mutation 'R0523:Ncam2'
ID |
48749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncam2
|
Ensembl Gene |
ENSMUSG00000022762 |
Gene Name |
neural cell adhesion molecule 2 |
Synonyms |
Ncam-2, RNCAM, R4B12 antigen, Ocam |
MMRRC Submission |
038716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0523 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81258531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 271
(I271T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
AlphaFold |
O35136 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037785
AA Change: I271T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: I271T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
IGc2
|
33 |
100 |
3.18e-6 |
SMART |
IGc2
|
127 |
193 |
1.13e-11 |
SMART |
IGc2
|
223 |
288 |
2.03e-13 |
SMART |
IGc2
|
313 |
387 |
1.12e-15 |
SMART |
IGc2
|
413 |
482 |
9.93e-8 |
SMART |
FN3
|
496 |
578 |
5.91e-13 |
SMART |
FN3
|
594 |
675 |
2.87e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067602
AA Change: I271T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: I271T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
IGc2
|
33 |
100 |
3.18e-6 |
SMART |
IGc2
|
127 |
193 |
1.13e-11 |
SMART |
IGc2
|
223 |
288 |
2.03e-13 |
SMART |
IGc2
|
313 |
387 |
1.12e-15 |
SMART |
IGc2
|
413 |
482 |
9.93e-8 |
SMART |
FN3
|
496 |
578 |
5.91e-13 |
SMART |
FN3
|
594 |
675 |
2.87e-2 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
low complexity region
|
741 |
757 |
N/A |
INTRINSIC |
low complexity region
|
789 |
812 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232550
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit exhibit increased proliferation rate and clonogenic frequency in spinal cord-derived neurospheres. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,289 (GRCm39) |
D807G |
possibly damaging |
Het |
Actl9 |
T |
A |
17: 33,652,323 (GRCm39) |
W128R |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,492,924 (GRCm39) |
I562V |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,715,200 (GRCm39) |
E79D |
probably benign |
Het |
Apobec1 |
T |
A |
6: 122,558,504 (GRCm39) |
I84F |
probably damaging |
Het |
Atp6v1b2 |
T |
C |
8: 69,562,637 (GRCm39) |
F458L |
possibly damaging |
Het |
Bco2 |
A |
T |
9: 50,445,926 (GRCm39) |
V490E |
probably damaging |
Het |
Catsperg1 |
G |
A |
7: 28,884,615 (GRCm39) |
|
probably benign |
Het |
Cdc37 |
T |
C |
9: 21,054,292 (GRCm39) |
K111R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,744,745 (GRCm39) |
|
probably benign |
Het |
Cfap91 |
G |
A |
16: 38,148,736 (GRCm39) |
P231S |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,223,870 (GRCm39) |
Y878N |
probably damaging |
Het |
Cpox |
T |
A |
16: 58,495,608 (GRCm39) |
C308* |
probably null |
Het |
Cracdl |
A |
T |
1: 37,683,710 (GRCm39) |
M1K |
probably null |
Het |
Ctnna3 |
T |
G |
10: 64,511,688 (GRCm39) |
M626R |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,727,873 (GRCm39) |
E93G |
probably benign |
Het |
Cyp2s1 |
G |
A |
7: 25,505,475 (GRCm39) |
R330W |
probably damaging |
Het |
Diaph1 |
C |
T |
18: 37,989,553 (GRCm39) |
V860I |
possibly damaging |
Het |
Dicer1 |
A |
G |
12: 104,668,750 (GRCm39) |
S1311P |
probably damaging |
Het |
Dpyd |
G |
A |
3: 118,692,852 (GRCm39) |
R332K |
probably benign |
Het |
E130308A19Rik |
G |
A |
4: 59,719,716 (GRCm39) |
R416H |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,775,005 (GRCm39) |
D218G |
probably benign |
Het |
Eif2ak1 |
T |
C |
5: 143,818,984 (GRCm39) |
V215A |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,272,577 (GRCm39) |
|
probably null |
Het |
Fcrl5 |
T |
C |
3: 87,365,099 (GRCm39) |
S583P |
possibly damaging |
Het |
Garin5b |
A |
G |
7: 4,762,392 (GRCm39) |
S246P |
possibly damaging |
Het |
Grid2ip |
C |
A |
5: 143,358,798 (GRCm39) |
Q29K |
possibly damaging |
Het |
Htr1f |
A |
T |
16: 64,746,262 (GRCm39) |
N343K |
probably damaging |
Het |
Hvcn1 |
T |
C |
5: 122,354,428 (GRCm39) |
|
probably null |
Het |
Igf2r |
T |
C |
17: 12,910,951 (GRCm39) |
I1956V |
probably benign |
Het |
Impdh2 |
A |
T |
9: 108,439,018 (GRCm39) |
|
probably null |
Het |
Impdh2 |
C |
T |
9: 108,439,019 (GRCm39) |
T96I |
possibly damaging |
Het |
Lactb |
C |
G |
9: 66,877,974 (GRCm39) |
G285A |
probably benign |
Het |
Lrrc43 |
T |
C |
5: 123,639,305 (GRCm39) |
S445P |
probably damaging |
Het |
Mapk12 |
T |
G |
15: 89,019,848 (GRCm39) |
M120L |
probably benign |
Het |
Mroh8 |
C |
G |
2: 157,065,956 (GRCm39) |
A669P |
probably damaging |
Het |
Mrpl38 |
A |
C |
11: 116,022,844 (GRCm39) |
H373Q |
probably benign |
Het |
Myocd |
A |
G |
11: 65,071,728 (GRCm39) |
V740A |
probably damaging |
Het |
Naprt |
A |
G |
15: 75,764,314 (GRCm39) |
F300S |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,701,995 (GRCm39) |
T582A |
probably benign |
Het |
Notch2 |
C |
T |
3: 97,978,286 (GRCm39) |
T89I |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,018,914 (GRCm39) |
R692H |
probably benign |
Het |
Nt5c3 |
A |
T |
6: 56,860,666 (GRCm39) |
N296K |
probably damaging |
Het |
Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,904,209 (GRCm39) |
Q555R |
unknown |
Het |
Or2ag17 |
A |
G |
7: 106,389,533 (GRCm39) |
V225A |
probably damaging |
Het |
Or5p69 |
A |
T |
7: 107,967,438 (GRCm39) |
H247L |
probably damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,273 (GRCm39) |
S43T |
probably benign |
Het |
P3h1 |
C |
A |
4: 119,098,727 (GRCm39) |
Q410K |
probably benign |
Het |
Pax3 |
A |
G |
1: 78,172,078 (GRCm39) |
V44A |
possibly damaging |
Het |
Pde1c |
T |
A |
6: 56,151,926 (GRCm39) |
L252F |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,024,529 (GRCm39) |
T497S |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,155,552 (GRCm39) |
T253A |
probably damaging |
Het |
Pipox |
T |
C |
11: 77,782,965 (GRCm39) |
E79G |
probably damaging |
Het |
Pole |
G |
T |
5: 110,451,459 (GRCm39) |
M829I |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,492,771 (GRCm39) |
L156Q |
probably damaging |
Het |
Psme2b |
T |
G |
11: 48,836,609 (GRCm39) |
T113P |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,416,081 (GRCm39) |
I1739T |
possibly damaging |
Het |
Qser1 |
T |
C |
2: 104,620,021 (GRCm39) |
T174A |
probably damaging |
Het |
Rcor3 |
T |
G |
1: 191,814,736 (GRCm39) |
D81A |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,724,045 (GRCm39) |
V785A |
probably benign |
Het |
Rnf11 |
T |
C |
4: 109,314,119 (GRCm39) |
D90G |
probably benign |
Het |
Sh3tc1 |
GCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCC |
5: 35,881,410 (GRCm39) |
|
probably benign |
Het |
Smad2 |
T |
A |
18: 76,395,623 (GRCm39) |
S21T |
probably benign |
Het |
Smc4 |
A |
G |
3: 68,933,221 (GRCm39) |
D639G |
probably damaging |
Het |
Smtn |
A |
T |
11: 3,474,664 (GRCm39) |
S716T |
possibly damaging |
Het |
Smug1 |
G |
T |
15: 103,064,136 (GRCm39) |
Q262K |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,794 (GRCm39) |
G403V |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,934,414 (GRCm39) |
F132L |
possibly damaging |
Het |
Tgm3 |
T |
C |
2: 129,886,582 (GRCm39) |
|
probably null |
Het |
Tigd2 |
C |
T |
6: 59,187,358 (GRCm39) |
T75M |
probably benign |
Het |
Tnfrsf13b |
T |
C |
11: 61,038,413 (GRCm39) |
V232A |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trim47 |
A |
G |
11: 115,998,716 (GRCm39) |
L301S |
probably damaging |
Het |
Trim75 |
G |
A |
8: 65,436,442 (GRCm39) |
H3Y |
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Tsbp1 |
G |
T |
17: 34,664,473 (GRCm39) |
|
probably null |
Het |
Ttc29 |
G |
C |
8: 79,003,466 (GRCm39) |
L227F |
probably benign |
Het |
Ttc39d |
G |
A |
17: 80,523,886 (GRCm39) |
D182N |
possibly damaging |
Het |
Ttll10 |
T |
A |
4: 156,129,818 (GRCm39) |
R164* |
probably null |
Het |
Ufsp2 |
T |
A |
8: 46,449,780 (GRCm39) |
D447E |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,399,691 (GRCm39) |
L272F |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,472,196 (GRCm39) |
V833A |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,989,165 (GRCm39) |
T308A |
probably benign |
Het |
Zfp933 |
G |
A |
4: 147,910,919 (GRCm39) |
Q226* |
probably null |
Het |
|
Other mutations in Ncam2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Ncam2
|
APN |
16 |
81,314,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01369:Ncam2
|
APN |
16 |
81,258,459 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01554:Ncam2
|
APN |
16 |
81,309,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01892:Ncam2
|
APN |
16 |
81,386,587 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02320:Ncam2
|
APN |
16 |
81,231,725 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02669:Ncam2
|
APN |
16 |
81,314,429 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03073:Ncam2
|
APN |
16 |
81,418,235 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03353:Ncam2
|
APN |
16 |
81,231,788 (GRCm39) |
missense |
probably benign |
0.04 |
BB009:Ncam2
|
UTSW |
16 |
81,412,708 (GRCm39) |
missense |
probably damaging |
0.99 |
BB019:Ncam2
|
UTSW |
16 |
81,412,708 (GRCm39) |
missense |
probably damaging |
0.99 |
R0087:Ncam2
|
UTSW |
16 |
81,231,789 (GRCm39) |
missense |
probably benign |
0.11 |
R0097:Ncam2
|
UTSW |
16 |
81,314,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Ncam2
|
UTSW |
16 |
81,314,517 (GRCm39) |
splice site |
probably benign |
|
R0279:Ncam2
|
UTSW |
16 |
81,420,225 (GRCm39) |
splice site |
probably benign |
|
R0471:Ncam2
|
UTSW |
16 |
80,997,772 (GRCm39) |
start gained |
probably benign |
|
R1353:Ncam2
|
UTSW |
16 |
80,997,803 (GRCm39) |
start codon destroyed |
probably null |
|
R1646:Ncam2
|
UTSW |
16 |
81,262,594 (GRCm39) |
critical splice donor site |
probably benign |
|
R1884:Ncam2
|
UTSW |
16 |
81,234,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Ncam2
|
UTSW |
16 |
81,386,586 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2157:Ncam2
|
UTSW |
16 |
81,287,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2330:Ncam2
|
UTSW |
16 |
81,309,809 (GRCm39) |
missense |
probably benign |
0.17 |
R2404:Ncam2
|
UTSW |
16 |
81,287,128 (GRCm39) |
splice site |
probably benign |
|
R2434:Ncam2
|
UTSW |
16 |
81,392,113 (GRCm39) |
missense |
probably benign |
0.01 |
R3104:Ncam2
|
UTSW |
16 |
81,262,598 (GRCm39) |
splice site |
probably benign |
|
R3842:Ncam2
|
UTSW |
16 |
81,231,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Ncam2
|
UTSW |
16 |
81,386,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Ncam2
|
UTSW |
16 |
81,287,211 (GRCm39) |
missense |
probably benign |
0.02 |
R4210:Ncam2
|
UTSW |
16 |
81,323,991 (GRCm39) |
missense |
probably benign |
0.02 |
R4514:Ncam2
|
UTSW |
16 |
81,309,884 (GRCm39) |
missense |
probably benign |
0.13 |
R4583:Ncam2
|
UTSW |
16 |
81,314,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:Ncam2
|
UTSW |
16 |
81,262,457 (GRCm39) |
missense |
probably benign |
0.06 |
R4710:Ncam2
|
UTSW |
16 |
81,262,594 (GRCm39) |
critical splice donor site |
probably null |
|
R4732:Ncam2
|
UTSW |
16 |
81,231,772 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4733:Ncam2
|
UTSW |
16 |
81,231,772 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4876:Ncam2
|
UTSW |
16 |
81,287,234 (GRCm39) |
missense |
probably benign |
0.27 |
R4923:Ncam2
|
UTSW |
16 |
81,386,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5131:Ncam2
|
UTSW |
16 |
81,234,550 (GRCm39) |
missense |
probably benign |
0.44 |
R5329:Ncam2
|
UTSW |
16 |
81,231,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R5478:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5479:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5481:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5519:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5522:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5523:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5524:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5526:Ncam2
|
UTSW |
16 |
81,231,766 (GRCm39) |
nonsense |
probably null |
|
R5718:Ncam2
|
UTSW |
16 |
81,386,702 (GRCm39) |
splice site |
probably null |
|
R5793:Ncam2
|
UTSW |
16 |
81,372,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6050:Ncam2
|
UTSW |
16 |
81,240,054 (GRCm39) |
nonsense |
probably null |
|
R6212:Ncam2
|
UTSW |
16 |
81,229,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Ncam2
|
UTSW |
16 |
81,229,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R6935:Ncam2
|
UTSW |
16 |
81,323,879 (GRCm39) |
missense |
probably benign |
0.24 |
R7159:Ncam2
|
UTSW |
16 |
81,287,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7193:Ncam2
|
UTSW |
16 |
81,386,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Ncam2
|
UTSW |
16 |
81,309,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7346:Ncam2
|
UTSW |
16 |
81,420,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R7568:Ncam2
|
UTSW |
16 |
81,386,689 (GRCm39) |
missense |
probably benign |
0.19 |
R7686:Ncam2
|
UTSW |
16 |
81,418,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7759:Ncam2
|
UTSW |
16 |
81,412,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Ncam2
|
UTSW |
16 |
81,287,267 (GRCm39) |
missense |
probably benign |
|
R7932:Ncam2
|
UTSW |
16 |
81,412,708 (GRCm39) |
missense |
probably damaging |
0.99 |
R8078:Ncam2
|
UTSW |
16 |
81,240,136 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8287:Ncam2
|
UTSW |
16 |
81,323,883 (GRCm39) |
missense |
probably benign |
0.07 |
R8354:Ncam2
|
UTSW |
16 |
81,309,847 (GRCm39) |
missense |
probably benign |
0.00 |
R8429:Ncam2
|
UTSW |
16 |
81,386,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8507:Ncam2
|
UTSW |
16 |
81,309,867 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8546:Ncam2
|
UTSW |
16 |
81,314,419 (GRCm39) |
missense |
probably benign |
0.21 |
R8775:Ncam2
|
UTSW |
16 |
81,314,429 (GRCm39) |
missense |
probably benign |
0.18 |
R8775-TAIL:Ncam2
|
UTSW |
16 |
81,314,429 (GRCm39) |
missense |
probably benign |
0.18 |
R9082:Ncam2
|
UTSW |
16 |
81,412,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9346:Ncam2
|
UTSW |
16 |
81,252,204 (GRCm39) |
missense |
probably benign |
0.07 |
R9386:Ncam2
|
UTSW |
16 |
81,252,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Ncam2
|
UTSW |
16 |
81,309,887 (GRCm39) |
missense |
probably benign |
0.03 |
R9510:Ncam2
|
UTSW |
16 |
81,420,341 (GRCm39) |
makesense |
probably null |
|
R9587:Ncam2
|
UTSW |
16 |
81,262,501 (GRCm39) |
missense |
probably benign |
0.00 |
R9616:Ncam2
|
UTSW |
16 |
81,240,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9642:Ncam2
|
UTSW |
16 |
81,418,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCACTGGGGAAAGAACTTGGAAATGA -3'
(R):5'- GTAGGTTGGCTCTGACATCCTTACAC -3'
Sequencing Primer
(F):5'- TTCAACCTCAGACAAATGTCATTC -3'
(R):5'- TGACATCCTTACACTTGGATGG -3'
|
Posted On |
2013-06-12 |