Incidental Mutation 'R4586:Ncam2'
ID |
344148 |
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 |
041807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4586 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81262457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 303
(H303Q)
|
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: H303Q
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: H303Q
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: H303Q
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: H303Q
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (96/96) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,026,151 (GRCm39) |
S1269P |
probably benign |
Het |
Aqr |
T |
C |
2: 113,943,058 (GRCm39) |
T1172A |
probably benign |
Het |
Art2a |
A |
T |
7: 101,203,956 (GRCm39) |
L194* |
probably null |
Het |
Atrn |
T |
C |
2: 130,823,962 (GRCm39) |
F967S |
probably damaging |
Het |
Btnl1 |
A |
G |
17: 34,601,436 (GRCm39) |
D323G |
probably damaging |
Het |
Cadps |
C |
A |
14: 12,505,808 (GRCm38) |
C754F |
probably damaging |
Het |
Catspere2 |
A |
G |
1: 177,950,351 (GRCm39) |
D734G |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,837,401 (GRCm39) |
T131A |
probably benign |
Het |
Cfap298 |
A |
T |
16: 90,724,314 (GRCm39) |
V136D |
probably damaging |
Het |
Cic |
A |
T |
7: 24,972,203 (GRCm39) |
I645L |
probably benign |
Het |
Clca3a1 |
C |
A |
3: 144,722,619 (GRCm39) |
C251F |
probably damaging |
Het |
Cldn16 |
A |
T |
16: 26,296,308 (GRCm39) |
T95S |
probably benign |
Het |
Cntnap4 |
C |
T |
8: 113,537,342 (GRCm39) |
H738Y |
probably benign |
Het |
Col8a2 |
A |
T |
4: 126,204,812 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
T |
5: 72,487,042 (GRCm39) |
V706D |
probably damaging |
Het |
Cuzd1 |
G |
A |
7: 130,916,529 (GRCm39) |
P310L |
probably damaging |
Het |
Cyp4a12a |
T |
C |
4: 115,184,509 (GRCm39) |
F295L |
probably benign |
Het |
Cyp4a12b |
T |
G |
4: 115,289,703 (GRCm39) |
M190R |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
Dapp1 |
T |
C |
3: 137,644,932 (GRCm39) |
Q148R |
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,918,924 (GRCm39) |
S499R |
probably benign |
Het |
Ddx27 |
T |
A |
2: 166,861,904 (GRCm39) |
D135E |
probably benign |
Het |
Defb3 |
A |
T |
8: 19,345,172 (GRCm39) |
I43F |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,178,122 (GRCm39) |
F710V |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
Dnmt1 |
G |
A |
9: 20,837,989 (GRCm39) |
P242S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,615,917 (GRCm39) |
D3022N |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,901,725 (GRCm39) |
T464I |
probably damaging |
Het |
Epc1 |
T |
C |
18: 6,449,138 (GRCm39) |
N453S |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
Ercc5 |
G |
A |
1: 44,198,017 (GRCm39) |
V145I |
probably benign |
Het |
Evc |
A |
G |
5: 37,481,057 (GRCm39) |
S263P |
probably damaging |
Het |
Fancc |
A |
T |
13: 63,495,378 (GRCm39) |
M182K |
probably benign |
Het |
Fbxl3 |
G |
T |
14: 103,320,526 (GRCm39) |
A355E |
probably damaging |
Het |
Fig4 |
A |
C |
10: 41,064,628 (GRCm39) |
S872A |
probably damaging |
Het |
Gm14393 |
C |
A |
2: 174,904,497 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
A |
T |
6: 130,498,003 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5a |
T |
A |
6: 135,060,450 (GRCm39) |
M313K |
probably benign |
Het |
H2ac15 |
T |
C |
13: 21,937,882 (GRCm39) |
N39S |
possibly damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,236 (GRCm39) |
|
probably null |
Het |
Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
Hook3 |
T |
G |
8: 26,522,039 (GRCm39) |
K679T |
probably damaging |
Het |
Ints2 |
G |
T |
11: 86,140,101 (GRCm39) |
R244S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,884,151 (GRCm39) |
V945A |
probably damaging |
Het |
Itih2 |
C |
T |
2: 10,115,211 (GRCm39) |
S387N |
probably benign |
Het |
Jmjd7 |
T |
A |
2: 119,862,649 (GRCm39) |
M306K |
probably benign |
Het |
Klra2 |
T |
A |
6: 131,207,120 (GRCm39) |
D163V |
probably benign |
Het |
Kmo |
T |
A |
1: 175,478,138 (GRCm39) |
M208K |
probably damaging |
Het |
Kmo |
G |
T |
1: 175,478,139 (GRCm39) |
M208I |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,358 (GRCm39) |
T480A |
probably damaging |
Het |
Mogs |
G |
T |
6: 83,095,619 (GRCm39) |
R812L |
possibly damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,328 (GRCm39) |
I97T |
possibly damaging |
Het |
Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
Ntaq1 |
A |
T |
15: 58,011,740 (GRCm39) |
I34F |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
Obox1 |
A |
T |
7: 15,290,152 (GRCm39) |
N165I |
possibly damaging |
Het |
Or1j1 |
C |
T |
2: 36,702,537 (GRCm39) |
C189Y |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,558 (GRCm39) |
E308D |
probably benign |
Het |
Or4c113 |
T |
G |
2: 88,885,498 (GRCm39) |
I91L |
possibly damaging |
Het |
Or6c35 |
A |
G |
10: 129,169,142 (GRCm39) |
T131A |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,683,885 (GRCm39) |
Y1127C |
probably damaging |
Het |
Pno1 |
T |
C |
11: 17,161,438 (GRCm39) |
K24E |
probably benign |
Het |
Qdpr |
T |
A |
5: 45,596,669 (GRCm39) |
N165I |
possibly damaging |
Het |
Robo2 |
A |
G |
16: 73,758,761 (GRCm39) |
V674A |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,889,864 (GRCm39) |
T598S |
unknown |
Het |
Samd11 |
A |
G |
4: 156,333,889 (GRCm39) |
L174P |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,573,395 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
G |
T |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,569,474 (GRCm39) |
|
probably benign |
Het |
Sox2 |
A |
G |
3: 34,705,193 (GRCm39) |
N210S |
probably benign |
Het |
Spag6 |
T |
C |
2: 18,736,958 (GRCm39) |
|
probably null |
Het |
Speer4b |
A |
T |
5: 27,703,036 (GRCm39) |
L154Q |
probably null |
Het |
Stt3a |
T |
A |
9: 36,653,089 (GRCm39) |
Q531L |
probably damaging |
Het |
Tcl1 |
A |
C |
12: 105,183,767 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
T |
12: 101,849,600 (GRCm39) |
M1488K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,798,747 (GRCm39) |
H509R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,593 (GRCm39) |
L425F |
possibly damaging |
Het |
Vmn1r238 |
T |
A |
18: 3,123,294 (GRCm39) |
K40M |
probably damaging |
Het |
Vopp1 |
G |
A |
6: 57,731,533 (GRCm39) |
P153S |
probably damaging |
Het |
Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
Zfp14 |
G |
T |
7: 29,738,341 (GRCm39) |
Q215K |
probably damaging |
Het |
Zfp473 |
A |
T |
7: 44,382,376 (GRCm39) |
Y651* |
probably null |
Het |
Zfp735 |
G |
T |
11: 73,580,550 (GRCm39) |
E16D |
possibly damaging |
Het |
Zfp846 |
G |
T |
9: 20,504,809 (GRCm39) |
C223F |
probably damaging |
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 |
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'- GGAAAGAGATGATGCTTATGTGTC -3'
(R):5'- GTGTAAATTGTATACCTACGGATGG -3'
Sequencing Primer
(F):5'- AGAGGAAATTTCGATTTTGTGGC -3'
(R):5'- ACCTACGGATGGATTATTCTAGAAAC -3'
|
Posted On |
2015-09-24 |