Incidental Mutation 'R5524:Ncam2'
ID |
431782 |
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 |
043082-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5524 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 81231766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 77
(R77*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
AlphaFold |
O35136 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037785
AA Change: R77*
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: R77*
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 null
Transcript: ENSMUST00000067602
AA Change: R77*
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: R77*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (76/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010L04Rik |
T |
A |
7: 82,503,150 (GRCm39) |
|
noncoding transcript |
Het |
6030469F06Rik |
A |
G |
12: 31,234,862 (GRCm39) |
|
noncoding transcript |
Het |
A830031A19Rik |
T |
A |
11: 24,008,776 (GRCm39) |
I13F |
unknown |
Het |
Acsbg2 |
A |
C |
17: 57,157,197 (GRCm39) |
L309R |
probably damaging |
Het |
Adam32 |
A |
T |
8: 25,412,328 (GRCm39) |
M76K |
probably damaging |
Het |
Adamts14 |
C |
A |
10: 61,066,222 (GRCm39) |
R297L |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
Asb14 |
A |
G |
14: 26,622,408 (GRCm39) |
K80E |
possibly damaging |
Het |
Baiap2l1 |
T |
C |
5: 144,217,759 (GRCm39) |
T276A |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,764,086 (GRCm39) |
P2127S |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,693,527 (GRCm39) |
T403A |
probably benign |
Het |
Cgn |
A |
C |
3: 94,687,299 (GRCm39) |
M1R |
probably null |
Het |
Chd5 |
T |
G |
4: 152,461,087 (GRCm39) |
S1226A |
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,894,558 (GRCm39) |
V1497A |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,688,727 (GRCm39) |
Y848* |
probably null |
Het |
Cyp2a12 |
T |
C |
7: 26,730,656 (GRCm39) |
V207A |
probably benign |
Het |
Cyth1 |
G |
A |
11: 118,073,593 (GRCm39) |
R247W |
probably benign |
Het |
Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Eml1 |
A |
T |
12: 108,487,635 (GRCm39) |
I518L |
probably damaging |
Het |
Eri1 |
A |
G |
8: 35,945,763 (GRCm39) |
V174A |
probably benign |
Het |
Fgd3 |
T |
A |
13: 49,431,053 (GRCm39) |
I435F |
probably damaging |
Het |
Foxd1 |
T |
G |
13: 98,492,412 (GRCm39) |
S429A |
unknown |
Het |
Ftcd |
T |
A |
10: 76,425,165 (GRCm39) |
|
probably benign |
Het |
Gm5478 |
G |
T |
15: 101,553,102 (GRCm39) |
N323K |
probably benign |
Het |
Gnpda1 |
G |
T |
18: 38,468,161 (GRCm39) |
P45Q |
probably damaging |
Het |
Kif20a |
G |
T |
18: 34,763,678 (GRCm39) |
|
probably null |
Het |
Klrb1 |
T |
C |
6: 128,689,296 (GRCm39) |
|
probably null |
Het |
Lcorl |
C |
A |
5: 45,932,864 (GRCm39) |
|
probably null |
Het |
Lcorl |
T |
A |
5: 45,932,865 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,000,900 (GRCm39) |
K2108M |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,921,364 (GRCm39) |
P3437S |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,159,863 (GRCm39) |
M349L |
possibly damaging |
Het |
Marchf7 |
T |
C |
2: 60,075,647 (GRCm39) |
|
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,424,786 (GRCm39) |
C601* |
probably null |
Het |
Muc19 |
G |
T |
15: 91,778,587 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
T |
C |
14: 103,532,673 (GRCm39) |
D427G |
probably damaging |
Het |
Nap1l5 |
C |
A |
6: 58,883,763 (GRCm39) |
V64L |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,721 (GRCm39) |
V863A |
possibly damaging |
Het |
Nr2c2 |
T |
A |
6: 92,116,746 (GRCm39) |
|
probably null |
Het |
Oosp3 |
T |
C |
19: 11,682,794 (GRCm39) |
F56S |
possibly damaging |
Het |
Or1a1b |
A |
T |
11: 74,097,409 (GRCm39) |
L211Q |
probably damaging |
Het |
Or5k17 |
C |
T |
16: 58,746,172 (GRCm39) |
C254Y |
probably benign |
Het |
Or8g20 |
C |
T |
9: 39,396,283 (GRCm39) |
V89M |
probably damaging |
Het |
Plgrkt |
G |
A |
19: 29,327,850 (GRCm39) |
P78S |
probably damaging |
Het |
Prss36 |
G |
A |
7: 127,533,637 (GRCm39) |
Q56* |
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,317 (GRCm39) |
|
probably null |
Het |
Qsox2 |
A |
T |
2: 26,107,699 (GRCm39) |
F265I |
probably damaging |
Het |
R3hcc1l |
G |
T |
19: 42,552,307 (GRCm39) |
E435* |
probably null |
Het |
Shbg |
T |
C |
11: 69,507,588 (GRCm39) |
D163G |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,837,546 (GRCm39) |
L108H |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,649,238 (GRCm39) |
E5D |
probably benign |
Het |
Spock1 |
C |
T |
13: 57,704,608 (GRCm39) |
G120D |
probably damaging |
Het |
Stk11ip |
G |
T |
1: 75,508,971 (GRCm39) |
C700F |
probably damaging |
Het |
Sult4a1 |
C |
T |
15: 83,974,159 (GRCm39) |
|
probably null |
Het |
Syngap1 |
A |
G |
17: 27,176,126 (GRCm39) |
H138R |
probably damaging |
Het |
Tdrd7 |
A |
G |
4: 46,034,301 (GRCm39) |
K1016E |
probably benign |
Het |
Tmem167b |
T |
C |
3: 108,467,569 (GRCm39) |
K26E |
possibly damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,883,943 (GRCm39) |
S146P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,607,060 (GRCm39) |
V16242I |
possibly damaging |
Het |
Vmn2r-ps3 |
T |
A |
3: 63,960,870 (GRCm39) |
|
noncoding transcript |
Het |
Vps13c |
T |
C |
9: 67,864,838 (GRCm39) |
F3049S |
probably damaging |
Het |
Vstm2l |
T |
C |
2: 157,777,355 (GRCm39) |
W78R |
probably damaging |
Het |
Wbp1l |
C |
A |
19: 46,642,695 (GRCm39) |
A216D |
possibly damaging |
Het |
Zer1 |
C |
G |
2: 29,994,866 (GRCm39) |
V510L |
probably damaging |
Het |
Zfp28 |
A |
T |
7: 6,397,850 (GRCm39) |
|
probably null |
Het |
Zfp352 |
C |
A |
4: 90,113,341 (GRCm39) |
P494T |
possibly damaging |
Het |
Zfp353-ps |
A |
G |
8: 42,535,600 (GRCm39) |
|
noncoding transcript |
Het |
Zfp563 |
A |
T |
17: 33,321,515 (GRCm39) |
|
probably null |
Het |
Zim1 |
T |
C |
7: 6,680,320 (GRCm39) |
N448D |
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 |
|
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'- AAGTTTCAGATCTCCAGGCTTCTG -3'
(R):5'- GTGTTTGAGTCCTTCCTGATGAAAC -3'
Sequencing Primer
(F):5'- AGATCTCCAGGCTTCTGTTTACAC -3'
(R):5'- GAAACTGCTGTGTCAATGACC -3'
|
Posted On |
2016-10-05 |