Incidental Mutation 'R8354:Ncam2'
| ID |
660630 |
| 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 |
067806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81309847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 446
(T446A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037785
AA Change: T446A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: T446A
| 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 benign
Transcript: ENSMUST00000067602
AA Change: T446A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: T446A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,676,297 (GRCm39) |
S353R |
probably damaging |
Het |
| Ap1ar |
T |
C |
3: 127,606,428 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
C |
A |
2: 153,235,345 (GRCm39) |
N213K |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,401,334 (GRCm39) |
E706K |
possibly damaging |
Het |
| Cfap46 |
C |
T |
7: 139,233,414 (GRCm39) |
V296I |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,043 (GRCm39) |
T100A |
probably benign |
Het |
| Ctnna1 |
C |
A |
18: 35,385,776 (GRCm39) |
N802K |
possibly damaging |
Het |
| Dennd2b |
G |
A |
7: 109,124,755 (GRCm39) |
R675* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,671,918 (GRCm39) |
T968A |
probably benign |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,862,234 (GRCm39) |
D203V |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,094,927 (GRCm39) |
M585T |
probably damaging |
Het |
| Donson |
G |
T |
16: 91,480,685 (GRCm39) |
T262K |
possibly damaging |
Het |
| E2f3 |
T |
A |
13: 30,169,787 (GRCm39) |
|
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,125,178 (GRCm39) |
E380G |
possibly damaging |
Het |
| Gbp9 |
T |
G |
5: 105,242,027 (GRCm39) |
T177P |
probably damaging |
Het |
| Gins3 |
C |
T |
8: 96,364,646 (GRCm39) |
A132V |
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,578,345 (GRCm39) |
Y467* |
probably null |
Het |
| Gm7138 |
A |
G |
10: 77,612,444 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
C |
3: 75,802,308 (GRCm39) |
E328G |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,301,388 (GRCm39) |
C270* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,964,467 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,634,142 (GRCm39) |
Y815N |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,887,619 (GRCm39) |
C2482S |
possibly damaging |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,260 (GRCm39) |
V57A |
probably damaging |
Het |
| Itpkb |
G |
A |
1: 180,160,908 (GRCm39) |
E345K |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,334,893 (GRCm39) |
V2136M |
possibly damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,127,211 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,235 (GRCm39) |
T208A |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,280,086 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,289,367 (GRCm39) |
N28I |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,378,843 (GRCm39) |
L293P |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,950,381 (GRCm39) |
E1010G |
probably damaging |
Het |
| Mpp4 |
C |
A |
1: 59,169,224 (GRCm39) |
R380L |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,250,742 (GRCm39) |
F469L |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,062 (GRCm39) |
D1050G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,509,793 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,036 (GRCm39) |
D119G |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,513 (GRCm39) |
S235P |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,488,357 (GRCm39) |
E1729G |
probably damaging |
Het |
| Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,681,707 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,074,137 (GRCm39) |
R283* |
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,504,503 (GRCm39) |
M238K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,300,061 (GRCm39) |
T247A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,614 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,884,291 (GRCm39) |
A114T |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,526,731 (GRCm39) |
V1307A |
probably benign |
Het |
| Scaf1 |
A |
C |
7: 44,657,251 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,986,866 (GRCm39) |
T440S |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,598 (GRCm39) |
V1023E |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,913,931 (GRCm39) |
I331V |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,786,313 (GRCm38) |
R1000C |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,753 (GRCm39) |
H162R |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,223 (GRCm39) |
H303L |
probably benign |
Het |
| Strip2 |
G |
A |
6: 29,920,531 (GRCm39) |
|
probably null |
Het |
| Stx2 |
T |
A |
5: 129,071,932 (GRCm39) |
I42L |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,410 (GRCm39) |
T240S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,070 (GRCm39) |
V10D |
probably damaging |
Het |
| Tmem41a |
T |
A |
16: 21,766,181 (GRCm39) |
Y19F |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,018,439 (GRCm39) |
T74A |
possibly damaging |
Het |
| Trim16 |
G |
T |
11: 62,727,587 (GRCm39) |
R216L |
probably benign |
Het |
| Trmt10c |
T |
C |
16: 55,854,870 (GRCm39) |
K255R |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,769,483 (GRCm39) |
V747E |
probably damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,399,005 (GRCm39) |
D28G |
possibly damaging |
Het |
| Uty |
G |
A |
Y: 1,157,928 (GRCm39) |
T705I |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,710 (GRCm39) |
I21F |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,204,723 (GRCm39) |
L176S |
probably damaging |
Het |
| Zfp992 |
A |
G |
4: 146,551,319 (GRCm39) |
T347A |
probably benign |
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 |
|
|
R0523:Ncam2
|
UTSW |
16 |
81,258,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TGTGGGCAAGGAATAATTACTAACG -3'
(R):5'- GTCAGTCAAATAGAATGTTGTGCCAAC -3'
Sequencing Primer
(F):5'- CTTGGGAAGGAAATCCAATC -3'
(R):5'- ATCTGCCCCAAATATCGA -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation