Incidental Mutation 'R9642:Ncam2'
| ID |
726103 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81418251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 769
(I769L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067602
AA Change: I769L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: I769L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,619,412 (GRCm39) |
|
probably null |
Het |
| Aadacl3 |
A |
G |
4: 144,182,512 (GRCm39) |
S319P |
probably benign |
Het |
| Abcc6 |
C |
A |
7: 45,639,765 (GRCm39) |
D907Y |
probably benign |
Het |
| Apol7b |
T |
C |
15: 77,308,103 (GRCm39) |
S131G |
probably benign |
Het |
| Atg2a |
C |
T |
19: 6,300,198 (GRCm39) |
R669* |
probably null |
Het |
| Atr |
T |
A |
9: 95,821,294 (GRCm39) |
I2260N |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,395,198 (GRCm39) |
V643E |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,627 (GRCm39) |
I524V |
possibly damaging |
Het |
| Ccdc171 |
C |
A |
4: 83,599,525 (GRCm39) |
A780E |
probably benign |
Het |
| Cdcp3 |
C |
A |
7: 130,848,257 (GRCm39) |
Q688K |
probably benign |
Het |
| Cfhr2 |
A |
G |
1: 139,738,620 (GRCm39) |
S314P |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,682,410 (GRCm39) |
D190E |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,013,825 (GRCm39) |
G1538R |
probably damaging |
Het |
| Dyrk4 |
A |
T |
6: 126,893,253 (GRCm39) |
V43E |
probably benign |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,350 (GRCm39) |
R76G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,188,115 (GRCm39) |
I13T |
possibly damaging |
Het |
| Eya3 |
A |
T |
4: 132,426,374 (GRCm39) |
I268F |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,521,453 (GRCm39) |
M439R |
probably benign |
Het |
| Fam83c |
T |
C |
2: 155,672,980 (GRCm39) |
N259S |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,258,707 (GRCm39) |
M963L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,355,469 (GRCm39) |
D271E |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
T |
A |
15: 85,751,697 (GRCm39) |
L297I |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,515,394 (GRCm39) |
H246L |
probably damaging |
Het |
| Hmox1 |
G |
A |
8: 75,823,881 (GRCm39) |
R183H |
possibly damaging |
Het |
| Ifi202b |
A |
T |
1: 173,799,850 (GRCm39) |
Y210* |
probably null |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,918 (GRCm39) |
I6N |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,536,490 (GRCm39) |
I173N |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,000,116 (GRCm39) |
V138A |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,283,340 (GRCm39) |
|
probably null |
Het |
| Krt87 |
T |
C |
15: 101,385,074 (GRCm39) |
N341D |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,272,181 (GRCm39) |
W770R |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,170,966 (GRCm39) |
I667T |
probably damaging |
Het |
| Mdp1 |
T |
C |
14: 55,896,933 (GRCm39) |
T71A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,601 (GRCm39) |
T505S |
possibly damaging |
Het |
| Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,335 (GRCm39) |
E83G |
possibly damaging |
Het |
| Notum |
T |
C |
11: 120,550,980 (GRCm39) |
D62G |
probably damaging |
Het |
| Or4c124 |
A |
T |
2: 89,155,907 (GRCm39) |
C206S |
possibly damaging |
Het |
| Or5ac22 |
A |
T |
16: 59,135,610 (GRCm39) |
H53Q |
possibly damaging |
Het |
| Or7a39 |
C |
T |
10: 78,715,395 (GRCm39) |
P130S |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,857 (GRCm39) |
S254P |
probably damaging |
Het |
| P2rx2 |
A |
G |
5: 110,489,878 (GRCm39) |
S196P |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,205 (GRCm39) |
V241A |
probably benign |
Het |
| Ppl |
C |
A |
16: 4,915,602 (GRCm39) |
R623S |
probably benign |
Het |
| Prkaca |
A |
G |
8: 84,717,088 (GRCm39) |
I151V |
probably benign |
Het |
| Psmb11 |
A |
T |
14: 54,863,295 (GRCm39) |
Q171L |
probably benign |
Het |
| Rab3gap2 |
T |
G |
1: 184,967,692 (GRCm39) |
F166V |
probably benign |
Het |
| Rab7 |
G |
A |
6: 87,981,187 (GRCm39) |
A165V |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,318,907 (GRCm39) |
Y2473H |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,848,341 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5l |
T |
A |
11: 58,237,085 (GRCm39) |
C347* |
probably null |
Het |
| Smc5 |
A |
G |
19: 23,238,752 (GRCm39) |
M208T |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
| Tas2r136 |
A |
T |
6: 132,754,462 (GRCm39) |
C222S |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,047 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tln2 |
A |
C |
9: 67,157,826 (GRCm39) |
V1171G |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,776,393 (GRCm39) |
F68L |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,959 (GRCm39) |
L143Q |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,682,508 (GRCm39) |
Q284K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,194,735 (GRCm39) |
E546G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,804,570 (GRCm39) |
I234T |
unknown |
Het |
| Upp1 |
A |
G |
11: 9,085,206 (GRCm39) |
K231R |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,285,967 (GRCm39) |
L4H |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,216 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,661 (GRCm39) |
C533R |
probably damaging |
Het |
| Vps35l |
C |
A |
7: 118,437,451 (GRCm39) |
D909E |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,072,694 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,966,073 (GRCm39) |
H219R |
probably benign |
Het |
| Ykt6 |
T |
C |
11: 5,905,917 (GRCm39) |
L6P |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,384 (GRCm39) |
V1682A |
probably benign |
Het |
| Zfp35 |
C |
T |
18: 24,137,155 (GRCm39) |
Q500* |
probably null |
Het |
| Zfp780b |
T |
A |
7: 27,664,135 (GRCm39) |
D140V |
probably benign |
Het |
| Zyg11b |
T |
C |
4: 108,117,185 (GRCm39) |
T352A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGACATTGCTTTATTCTAGTTCC -3'
(R):5'- AGTGAGGCCAAGGATTTCATG -3'
Sequencing Primer
(F):5'- CATTGCTTTATTCTAGTTCCTTAGGG -3'
(R):5'- GGGAAATATCTTAAAATGGACT -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation