Incidental Mutation 'R7686:Ncam2'
| ID |
593124 |
| 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 |
045751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81418342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 799
(E799V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067602
AA Change: E799V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: E799V
| 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 |
|
| Meta Mutation Damage Score |
0.0894 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (78/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
T |
1: 66,887,557 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,664,430 (GRCm39) |
I347F |
|
Het |
| Agmo |
T |
C |
12: 37,469,973 (GRCm39) |
V431A |
probably benign |
Het |
| Arl14epl |
A |
G |
18: 47,065,523 (GRCm39) |
D96G |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,233,534 (GRCm39) |
S113F |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,034 (GRCm39) |
C81* |
probably null |
Het |
| Bloc1s3 |
C |
T |
7: 19,241,531 (GRCm39) |
|
probably benign |
Het |
| Bmper |
C |
G |
9: 23,310,840 (GRCm39) |
L425V |
probably benign |
Het |
| Bok |
A |
T |
1: 93,622,822 (GRCm39) |
T194S |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
| Brcc3dc |
T |
C |
10: 108,535,301 (GRCm39) |
E218G |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,694,870 (GRCm39) |
I1541N |
probably benign |
Het |
| Brpf3 |
T |
C |
17: 29,025,908 (GRCm39) |
I327T |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,313,158 (GRCm39) |
N297Y |
probably damaging |
Het |
| Catsper2 |
C |
T |
2: 121,227,937 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,575,556 (GRCm39) |
N480I |
unknown |
Het |
| Cd83 |
A |
G |
13: 43,938,848 (GRCm39) |
M22V |
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,518,964 (GRCm39) |
D243G |
unknown |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Ctla4 |
A |
T |
1: 60,951,752 (GRCm39) |
T94S |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,361,430 (GRCm39) |
M1K |
probably null |
Het |
| Epha3 |
T |
A |
16: 63,593,651 (GRCm39) |
I146F |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,326,399 (GRCm39) |
S1008T |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,534 (GRCm39) |
R143G |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,335,233 (GRCm39) |
K654E |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,725,324 (GRCm39) |
M343T |
probably benign |
Het |
| Fibcd1 |
T |
G |
2: 31,723,880 (GRCm39) |
D253A |
probably damaging |
Het |
| Foxk1 |
C |
T |
5: 142,387,625 (GRCm39) |
S116L |
probably damaging |
Het |
| Gimap8 |
G |
A |
6: 48,633,006 (GRCm39) |
G275E |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,144,633 (GRCm39) |
Y269H |
probably damaging |
Het |
| H2ac20 |
T |
C |
3: 96,127,886 (GRCm39) |
E92G |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,645,086 (GRCm39) |
F522S |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,292 (GRCm39) |
N684S |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,146,504 (GRCm39) |
S372* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,319,581 (GRCm39) |
Y1981H |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,062 (GRCm39) |
Q2121P |
unknown |
Het |
| Lrrn2 |
A |
G |
1: 132,866,332 (GRCm39) |
T466A |
probably benign |
Het |
| Map3k19 |
A |
T |
1: 127,749,985 (GRCm39) |
L1122* |
probably null |
Het |
| Mfsd6 |
T |
C |
1: 52,701,554 (GRCm39) |
E632G |
probably benign |
Het |
| Mfsd6l |
C |
T |
11: 68,448,052 (GRCm39) |
A301V |
probably benign |
Het |
| Mro |
A |
T |
18: 74,010,510 (GRCm39) |
M197L |
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,350,433 (GRCm39) |
D880E |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,842,330 (GRCm39) |
I148L |
possibly damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,582 (GRCm39) |
T246A |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,379 (GRCm39) |
R164S |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,117,439 (GRCm39) |
G113D |
probably damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,107,070 (GRCm39) |
T687S |
probably damaging |
Het |
| Pou2af1 |
T |
C |
9: 51,149,486 (GRCm39) |
Y193H |
probably damaging |
Het |
| Ppp1r14c |
T |
A |
10: 3,413,396 (GRCm39) |
I143N |
probably damaging |
Het |
| Ppp1r16a |
A |
T |
15: 76,578,783 (GRCm39) |
S496C |
probably benign |
Het |
| Prdm12 |
G |
A |
2: 31,530,229 (GRCm39) |
R40Q |
probably damaging |
Het |
| Rabepk |
C |
T |
2: 34,669,308 (GRCm39) |
G362S |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
A |
T |
6: 76,474,013 (GRCm39) |
L201H |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,755,293 (GRCm39) |
V743F |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,802,116 (GRCm39) |
C148* |
probably null |
Het |
| Scart2 |
A |
G |
7: 139,828,965 (GRCm39) |
N208S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,081 (GRCm39) |
Y1804N |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,316,150 (GRCm39) |
E257G |
possibly damaging |
Het |
| Stoml3 |
T |
C |
3: 53,410,589 (GRCm39) |
I101T |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,645,154 (GRCm39) |
D950G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,360 (GRCm39) |
D328G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,956,299 (GRCm39) |
K623E |
probably damaging |
Het |
| Tas2r134 |
T |
A |
2: 51,518,255 (GRCm39) |
S245T |
possibly damaging |
Het |
| Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,113,885 (GRCm39) |
V458I |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Tram1l1 |
T |
C |
3: 124,114,959 (GRCm39) |
F40L |
probably benign |
Het |
| Ttc29 |
A |
T |
8: 79,119,759 (GRCm39) |
T464S |
probably benign |
Het |
| Txndc9 |
A |
T |
1: 38,026,849 (GRCm39) |
M192K |
probably benign |
Het |
| Urb2 |
C |
A |
8: 124,771,911 (GRCm39) |
A1444E |
probably benign |
Het |
| Uty |
G |
A |
Y: 1,158,075 (GRCm39) |
T657I |
possibly damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,590 (GRCm39) |
V25D |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,744 (GRCm39) |
I724N |
probably damaging |
Het |
| Xkr6 |
C |
T |
14: 63,844,295 (GRCm39) |
T106M |
possibly damaging |
Het |
| Zc3h18 |
G |
A |
8: 123,140,615 (GRCm39) |
R850Q |
unknown |
Het |
| Zfp341 |
A |
G |
2: 154,466,781 (GRCm39) |
E50G |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,107,985 (GRCm39) |
A692E |
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 |
|
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 |
|
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'- AGCCTAGATGAGCATATTTGACAC -3'
(R):5'- TGAGGCCAAGGATTTCATGC -3'
Sequencing Primer
(F):5'- GATGAGCATATTTGACACATCGAAG -3'
(R):5'- CAAGGGAAATATCTTAAAATGGAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation