Incidental Mutation 'R2157:Ncam2'
ID |
234946 |
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 |
040160-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81287277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 397
(I397T)
|
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: I397T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: I397T
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: I397T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: I397T
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
|
Meta Mutation Damage Score |
0.7919 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (80/80) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
T |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
4930590J08Rik |
T |
A |
6: 91,919,468 (GRCm39) |
M709K |
possibly damaging |
Het |
4930590J08Rik |
A |
G |
6: 91,894,679 (GRCm39) |
|
probably null |
Het |
A930011G23Rik |
T |
G |
5: 99,379,956 (GRCm39) |
I394L |
probably damaging |
Het |
Abca13 |
A |
C |
11: 9,527,170 (GRCm39) |
M4528L |
probably damaging |
Het |
Abcb1b |
G |
A |
5: 8,874,791 (GRCm39) |
A484T |
probably benign |
Het |
Actn1 |
A |
T |
12: 80,219,891 (GRCm39) |
M660K |
probably benign |
Het |
Adgra3 |
G |
T |
5: 50,159,283 (GRCm39) |
N322K |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,607,788 (GRCm39) |
|
probably benign |
Het |
Apoa1 |
T |
C |
9: 46,140,471 (GRCm39) |
V34A |
probably damaging |
Het |
Arrdc1 |
G |
A |
2: 24,816,987 (GRCm39) |
A113V |
probably damaging |
Het |
As3mt |
A |
G |
19: 46,696,231 (GRCm39) |
D13G |
probably benign |
Het |
Cald1 |
A |
G |
6: 34,662,976 (GRCm39) |
Q13R |
possibly damaging |
Het |
Ccdc28a |
G |
A |
10: 18,106,203 (GRCm39) |
T41I |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,190,921 (GRCm39) |
|
probably benign |
Het |
Cct2 |
T |
C |
10: 116,898,714 (GRCm39) |
|
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,583,873 (GRCm39) |
I571T |
possibly damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
Comp |
C |
T |
8: 70,832,220 (GRCm39) |
Q554* |
probably null |
Het |
Csf2ra |
T |
C |
19: 61,215,509 (GRCm39) |
T70A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,559,183 (GRCm39) |
E2256G |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,669,208 (GRCm39) |
V1158D |
probably benign |
Het |
Dner |
A |
G |
1: 84,361,659 (GRCm39) |
F650S |
possibly damaging |
Het |
Dnm3 |
T |
C |
1: 162,135,462 (GRCm39) |
N437S |
possibly damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,592,076 (GRCm39) |
I176V |
probably benign |
Het |
Dpy19l2 |
A |
T |
9: 24,495,928 (GRCm39) |
C597S |
probably benign |
Het |
Edf1 |
T |
C |
2: 25,448,043 (GRCm39) |
|
probably null |
Het |
Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
Enpp3 |
A |
G |
10: 24,652,776 (GRCm39) |
F727S |
probably damaging |
Het |
Epb42 |
C |
T |
2: 120,852,243 (GRCm39) |
M583I |
probably benign |
Het |
Foxred1 |
A |
G |
9: 35,116,659 (GRCm39) |
F117S |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,372 (GRCm39) |
M811K |
possibly damaging |
Het |
Gm5117 |
A |
T |
8: 32,228,222 (GRCm39) |
|
noncoding transcript |
Het |
Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
Grik1 |
G |
A |
16: 87,853,012 (GRCm39) |
A57V |
probably damaging |
Het |
Hdgfl2 |
G |
A |
17: 56,405,691 (GRCm39) |
V476I |
possibly damaging |
Het |
Il17b |
G |
T |
18: 61,823,439 (GRCm39) |
W91L |
probably damaging |
Het |
Jph4 |
C |
A |
14: 55,350,984 (GRCm39) |
R344L |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,664,005 (GRCm39) |
D522G |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,179,480 (GRCm39) |
L398S |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,214 (GRCm39) |
T132A |
probably benign |
Het |
Mbtps1 |
G |
T |
8: 120,269,466 (GRCm39) |
T208K |
probably benign |
Het |
Mr1 |
A |
G |
1: 155,022,376 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,828,240 (GRCm39) |
L140F |
probably damaging |
Het |
Mybpc2 |
C |
G |
7: 44,159,269 (GRCm39) |
D594H |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,647,164 (GRCm39) |
M570V |
probably benign |
Het |
Ndufs4 |
C |
T |
13: 114,453,514 (GRCm39) |
V75I |
probably damaging |
Het |
Nek4 |
T |
A |
14: 30,701,925 (GRCm39) |
|
probably null |
Het |
Nfatc1 |
G |
T |
18: 80,679,060 (GRCm39) |
A762D |
possibly damaging |
Het |
Nhsl3 |
C |
T |
4: 129,117,917 (GRCm39) |
R249H |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,324,866 (GRCm39) |
I1209T |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,250 (GRCm39) |
I159T |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,213 (GRCm39) |
N88I |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,877 (GRCm39) |
D421G |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,820,112 (GRCm39) |
V285A |
possibly damaging |
Het |
Pigg |
T |
A |
5: 108,466,755 (GRCm39) |
I212N |
probably damaging |
Het |
Plcd3 |
A |
T |
11: 102,961,974 (GRCm39) |
C711S |
probably benign |
Het |
Plscr5 |
G |
A |
9: 92,080,550 (GRCm39) |
R12K |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,493,909 (GRCm39) |
I236V |
probably benign |
Het |
Ppp1r26 |
T |
C |
2: 28,342,370 (GRCm39) |
F667L |
probably benign |
Het |
Prkx |
A |
G |
X: 76,814,920 (GRCm39) |
F247L |
probably benign |
Het |
Qpct |
G |
A |
17: 79,378,115 (GRCm39) |
R95Q |
probably benign |
Het |
Ralgapb |
G |
T |
2: 158,279,392 (GRCm39) |
M159I |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,445,997 (GRCm39) |
L277P |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,366,669 (GRCm39) |
S705P |
probably damaging |
Het |
Slc4a8 |
A |
G |
15: 100,704,254 (GRCm39) |
T750A |
probably damaging |
Het |
Slc66a1 |
A |
T |
4: 139,029,166 (GRCm39) |
V106D |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,141,230 (GRCm39) |
E6114G |
probably damaging |
Het |
Tat |
T |
C |
8: 110,724,236 (GRCm39) |
M375T |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,436,522 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
T |
C |
5: 86,861,587 (GRCm39) |
K320E |
probably benign |
Het |
Tnr |
T |
C |
1: 159,685,840 (GRCm39) |
I357T |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,035,638 (GRCm39) |
R294S |
possibly damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,443 (GRCm39) |
D726N |
probably damaging |
Het |
Vpreb1b |
T |
A |
16: 17,798,934 (GRCm39) |
L140* |
probably null |
Het |
Wfs1 |
G |
A |
5: 37,125,286 (GRCm39) |
P535L |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,229,532 (GRCm39) |
L307P |
probably damaging |
Het |
Zfp160 |
A |
G |
17: 21,241,090 (GRCm39) |
S53G |
probably benign |
Het |
Zfp319 |
A |
G |
8: 96,054,659 (GRCm39) |
C515R |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,974,929 (GRCm39) |
F24L |
possibly damaging |
Het |
Zzef1 |
A |
T |
11: 72,739,460 (GRCm39) |
|
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 |
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'- TAACACGATGAATTTGGGGACTG -3'
(R):5'- AGGAACTCTGGGAATTGACTG -3'
Sequencing Primer
(F):5'- TTTTTCATCATCACAAGAAATCGCCC -3'
(R):5'- GAACTCTGGGAATTGACTGAATTG -3'
|
Posted On |
2014-10-01 |