Incidental Mutation 'R0087:Ncam2'
ID |
19980 |
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 |
038374-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0087 (G1)
|
Quality Score |
200 |
Status
|
Validated
(trace)
|
Chromosome |
16 |
Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81231789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 84
(N84K)
|
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: N84K
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: N84K
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: N84K
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: N84K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
Validation Efficiency |
86% (59/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,871,594 (GRCm39) |
T541A |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
Gria1 |
A |
G |
11: 57,208,538 (GRCm39) |
Y742C |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
Nbr1 |
A |
C |
11: 101,455,519 (GRCm39) |
D91A |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,055,851 (GRCm39) |
M1K |
probably null |
Het |
Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
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 |
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 |
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'- GGACCAGACGGAGTCTTTAATGTTGC -3'
(R):5'- TGTTTGAGTCCTTCCTGATGAAACTGC -3'
Sequencing Primer
(F):5'- GTACAAGTTTCAGATCTCCAGGC -3'
(R):5'- GAAACTGCTGTGTCAATGACC -3'
|
Posted On |
2013-04-11 |