Incidental Mutation 'R1884:Ncam2'
| ID |
209394 |
| 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 |
039905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1884 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81234571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 142
(P142L)
|
| 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: P142L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: P142L
| 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: P142L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: P142L
| 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 |
0.4072 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
| Validation Efficiency |
99% (94/95) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
C |
9: 103,991,684 (GRCm39) |
M573T |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,851,422 (GRCm39) |
T1162A |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
T |
A |
9: 111,972,595 (GRCm39) |
D232V |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,304,414 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Brs3 |
T |
C |
X: 56,092,449 (GRCm39) |
I311T |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,379,046 (GRCm39) |
V2915I |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,602,245 (GRCm39) |
T287K |
probably benign |
Het |
| Chst2 |
G |
A |
9: 95,287,611 (GRCm39) |
T245I |
probably damaging |
Het |
| Cnot4 |
C |
T |
6: 35,055,092 (GRCm39) |
V66I |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,656,353 (GRCm39) |
T885A |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,634,703 (GRCm39) |
T131I |
possibly damaging |
Het |
| Coro7 |
G |
T |
16: 4,446,683 (GRCm39) |
|
probably benign |
Het |
| Cpne8 |
C |
A |
15: 90,532,831 (GRCm39) |
|
probably benign |
Het |
| Dbnl |
G |
A |
11: 5,749,247 (GRCm39) |
G356E |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,749,002 (GRCm39) |
I266N |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,580,159 (GRCm39) |
I1592N |
probably damaging |
Het |
| Dok6 |
A |
T |
18: 89,492,130 (GRCm39) |
L149Q |
probably damaging |
Het |
| Eri2 |
G |
A |
7: 119,390,346 (GRCm39) |
T94I |
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,594,079 (GRCm39) |
V697A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,648 (GRCm39) |
T153M |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,326,985 (GRCm39) |
I1224V |
probably benign |
Het |
| Fzd5 |
G |
A |
1: 64,774,813 (GRCm39) |
T316M |
probably damaging |
Het |
| Gcm1 |
G |
T |
9: 77,966,861 (GRCm39) |
V27L |
probably benign |
Het |
| Gm5773 |
A |
T |
3: 93,681,348 (GRCm39) |
D340V |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,100,815 (GRCm39) |
H379Q |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,847,738 (GRCm39) |
M392L |
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,287,469 (GRCm39) |
D452E |
probably benign |
Het |
| Krtap2-4 |
G |
C |
11: 99,505,505 (GRCm39) |
|
probably benign |
Het |
| Lrit1 |
T |
C |
14: 36,783,710 (GRCm39) |
V346A |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,912,185 (GRCm39) |
S1792P |
probably benign |
Het |
| Marveld2 |
A |
T |
13: 100,737,129 (GRCm39) |
V168E |
probably benign |
Het |
| Ms4a4b |
T |
A |
19: 11,438,629 (GRCm39) |
D149E |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,164,278 (GRCm39) |
D1058N |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,379,330 (GRCm39) |
L192P |
probably damaging |
Het |
| Nol10 |
T |
C |
12: 17,418,390 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,591,538 (GRCm39) |
V194A |
probably damaging |
Het |
| Nudt6 |
A |
G |
3: 37,466,549 (GRCm39) |
V82A |
probably benign |
Het |
| Odf2l |
A |
T |
3: 144,856,809 (GRCm39) |
N492I |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,764 (GRCm39) |
S200P |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,189 (GRCm39) |
I228T |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,972,840 (GRCm39) |
V276A |
probably damaging |
Het |
| Prl3b1 |
T |
G |
13: 27,431,886 (GRCm39) |
L137R |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,925,762 (GRCm39) |
F10L |
probably damaging |
Het |
| Rab3b |
T |
A |
4: 108,786,649 (GRCm39) |
V133E |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,520 (GRCm39) |
S138T |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Runx1t1 |
A |
G |
4: 13,835,767 (GRCm39) |
T75A |
probably benign |
Het |
| Ryr2 |
T |
G |
13: 11,753,242 (GRCm39) |
K1693T |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,481,255 (GRCm39) |
I317N |
probably damaging |
Het |
| Serpina1d |
T |
A |
12: 103,732,037 (GRCm39) |
D274V |
possibly damaging |
Het |
| Setd2 |
T |
G |
9: 110,385,486 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,141,646 (GRCm39) |
Y1109C |
probably damaging |
Het |
| Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Slc22a2 |
A |
G |
17: 12,833,713 (GRCm39) |
|
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,551,091 (GRCm39) |
W108R |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,691,524 (GRCm39) |
E440G |
probably damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,904,201 (GRCm39) |
T219A |
probably benign |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Svil |
T |
G |
18: 5,094,640 (GRCm39) |
V1440G |
possibly damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,411,961 (GRCm39) |
T165S |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,430,677 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
A |
17: 34,908,539 (GRCm39) |
D1520E |
probably benign |
Het |
| Top1mt |
C |
T |
15: 75,539,750 (GRCm39) |
R287H |
possibly damaging |
Het |
| Trdn |
A |
G |
10: 33,133,091 (GRCm39) |
K314E |
probably benign |
Het |
| Troap |
T |
A |
15: 98,975,779 (GRCm39) |
C233S |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,947,247 (GRCm39) |
M571T |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,438,319 (GRCm39) |
H644R |
probably damaging |
Het |
| Vipr1 |
C |
T |
9: 121,494,930 (GRCm39) |
P327L |
possibly damaging |
Het |
| Vmn1r31 |
C |
T |
6: 58,449,029 (GRCm39) |
V279I |
probably damaging |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,678 (GRCm39) |
R18W |
probably benign |
Het |
| Vmn2r18 |
G |
T |
5: 151,499,190 (GRCm39) |
Q425K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,094 (GRCm39) |
V299A |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,430,437 (GRCm39) |
|
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,443,102 (GRCm39) |
D31G |
probably damaging |
Het |
| Zfp385c |
A |
C |
11: 100,521,532 (GRCm39) |
V176G |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,545,870 (GRCm39) |
H1325R |
possibly 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 |
|
|
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'- TGTGTTAAGAACCCAGAGATCAC -3'
(R):5'- ACTAGGAACACTGGCCTGTAG -3'
Sequencing Primer
(F):5'- AATTGTCTAGATCCTCACTACACTAG -3'
(R):5'- CACTGGCCTGTAGGAAGGTTTATTTC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation