Incidental Mutation 'R5523:Ncam2'
| ID |
431711 |
| 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 |
043265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 |
|
| 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 |
|---|
| Acadm |
G |
A |
3: 153,644,273 (GRCm39) |
T70M |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,223,650 (GRCm39) |
A218T |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,642 (GRCm39) |
D810G |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,707,341 (GRCm39) |
L315* |
probably null |
Het |
| Apoa5 |
T |
C |
9: 46,181,887 (GRCm39) |
F321S |
possibly damaging |
Het |
| Baiap2l1 |
G |
C |
5: 144,212,768 (GRCm39) |
P416A |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,835,432 (GRCm39) |
I128V |
possibly damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,717,905 (GRCm39) |
|
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,294,832 (GRCm39) |
R13H |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,880 (GRCm39) |
V723A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,685,675 (GRCm39) |
W849R |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,267,192 (GRCm39) |
D169G |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,807 (GRCm39) |
N84K |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,888,796 (GRCm39) |
F192I |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,342,554 (GRCm39) |
D632G |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Echs1 |
G |
T |
7: 139,692,426 (GRCm39) |
T107K |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,843,580 (GRCm39) |
V17I |
probably damaging |
Het |
| Fank1 |
G |
T |
7: 133,478,569 (GRCm39) |
C210F |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,978,194 (GRCm39) |
M136R |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,401,017 (GRCm39) |
P240H |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,227,608 (GRCm39) |
R1516G |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,330,931 (GRCm39) |
Q459* |
probably null |
Het |
| Hadha |
C |
A |
5: 30,350,252 (GRCm39) |
V99F |
possibly damaging |
Het |
| Hirip3 |
A |
G |
7: 126,463,034 (GRCm39) |
D330G |
possibly damaging |
Het |
| Irx2 |
T |
C |
13: 72,779,714 (GRCm39) |
W333R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,271 (GRCm39) |
T10A |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
| Klc3 |
A |
T |
7: 19,130,932 (GRCm39) |
I215N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,337 (GRCm39) |
V3657A |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,164 (GRCm39) |
L54* |
probably null |
Het |
| Mgll |
T |
C |
6: 88,702,743 (GRCm39) |
V14A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,234,408 (GRCm39) |
N976S |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,196,788 (GRCm39) |
A1807E |
possibly damaging |
Het |
| Nalcn |
G |
A |
14: 123,647,155 (GRCm39) |
P573S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,168,827 (GRCm39) |
S1903G |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,556 (GRCm39) |
D145V |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,687 (GRCm39) |
Y295* |
probably null |
Het |
| Padi1 |
A |
T |
4: 140,542,164 (GRCm39) |
V586D |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,416,192 (GRCm39) |
D311G |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,439 (GRCm39) |
H510L |
probably damaging |
Het |
| Plcb1 |
C |
A |
2: 135,102,486 (GRCm39) |
P221H |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,069,856 (GRCm39) |
V58E |
probably damaging |
Het |
| Pparg |
A |
C |
6: 115,467,032 (GRCm39) |
Q435P |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,484,892 (GRCm39) |
T282A |
possibly damaging |
Het |
| Prcd |
T |
C |
11: 116,559,110 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
A |
T |
9: 72,852,266 (GRCm39) |
H151L |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,446,773 (GRCm39) |
Y266C |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,255,411 (GRCm39) |
V246A |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,704 (GRCm39) |
S378P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,390 (GRCm39) |
N318S |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,798,754 (GRCm39) |
V1765I |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,276,598 (GRCm39) |
K116* |
probably null |
Het |
| Smc6 |
T |
A |
12: 11,341,540 (GRCm39) |
H519Q |
probably benign |
Het |
| Sowahc |
T |
A |
10: 59,058,785 (GRCm39) |
M307K |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,560 (GRCm39) |
Y960H |
probably damaging |
Het |
| Tmem270 |
A |
C |
5: 134,931,636 (GRCm39) |
V102G |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,486,729 (GRCm39) |
F54L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,544,695 (GRCm39) |
Y270* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,771,795 (GRCm39) |
F615L |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,866,558 (GRCm39) |
S525P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,777,241 (GRCm39) |
M1387K |
possibly damaging |
Het |
| Upk3bl |
A |
T |
5: 136,088,954 (GRCm39) |
R156W |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,299,198 (GRCm39) |
R290L |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,620,005 (GRCm39) |
V1561A |
|
Het |
| Zan |
A |
G |
5: 137,420,155 (GRCm39) |
I2834T |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,755,454 (GRCm39) |
Y90C |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,339 (GRCm39) |
V1056A |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,930,455 (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 |
|
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 |
|
|
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'- ACAAGTTTCAGATCTCCAGGC -3'
(R):5'- GTTTGAGTCCTTCCTGATGAAAC -3'
Sequencing Primer
(F):5'- ACAAGTTTCAGATCTCCAGGCTTCTG -3'
(R):5'- GAAACTGCTGTGTCAATGACC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation