Incidental Mutation 'R6847:Ncam2'
ID |
534832 |
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 |
045021-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6847 (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 81229606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 22
(Q22L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
AlphaFold |
O35136 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037785
AA Change: Q22L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000049390 Gene: ENSMUSG00000022762 AA Change: Q22L
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: Q22L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063468 Gene: ENSMUSG00000022762 AA Change: Q22L
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 |
0.4331 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
100% (50/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,021,465 (GRCm39) |
I675T |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,233,797 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
T |
A |
13: 4,488,497 (GRCm39) |
C34* |
probably null |
Het |
Akt3 |
G |
A |
1: 176,859,225 (GRCm39) |
P449S |
probably damaging |
Het |
Atg2b |
A |
T |
12: 105,602,047 (GRCm39) |
V1643E |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,295,778 (GRCm39) |
I819V |
probably damaging |
Het |
Casp3 |
C |
T |
8: 47,089,301 (GRCm39) |
A183V |
probably benign |
Het |
Cdk1 |
A |
T |
10: 69,174,358 (GRCm39) |
D288E |
probably benign |
Het |
Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,399,281 (GRCm39) |
K2268E |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,792,857 (GRCm39) |
E164G |
probably benign |
Het |
Cubn |
A |
C |
2: 13,449,064 (GRCm39) |
|
probably null |
Het |
Dnajc14 |
A |
T |
10: 128,652,656 (GRCm39) |
E571D |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eef1b2 |
A |
G |
1: 63,217,648 (GRCm39) |
E44G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,768,447 (GRCm39) |
V747I |
probably benign |
Het |
Ext1 |
T |
G |
15: 53,208,550 (GRCm39) |
Q70H |
probably benign |
Het |
Gbp2b |
T |
A |
3: 142,303,940 (GRCm39) |
C12S |
probably damaging |
Het |
Gbp8 |
A |
C |
5: 105,179,093 (GRCm39) |
D135E |
probably benign |
Het |
Gm12886 |
A |
T |
4: 121,273,916 (GRCm39) |
L100* |
probably null |
Het |
Gpatch1 |
A |
T |
7: 34,992,983 (GRCm39) |
|
probably null |
Het |
Ifit3b |
A |
T |
19: 34,588,925 (GRCm39) |
M34L |
probably benign |
Het |
Il12a |
G |
T |
3: 68,602,899 (GRCm39) |
D160Y |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,212,816 (GRCm39) |
L241P |
probably damaging |
Het |
Krt80 |
T |
C |
15: 101,256,610 (GRCm39) |
E195G |
probably benign |
Het |
Lgi1 |
T |
C |
19: 38,289,738 (GRCm39) |
V268A |
probably damaging |
Het |
Lrrfip1 |
A |
T |
1: 91,032,850 (GRCm39) |
D216V |
probably damaging |
Het |
Meis3 |
A |
G |
7: 15,917,789 (GRCm39) |
N314S |
probably damaging |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myh15 |
A |
T |
16: 48,965,451 (GRCm39) |
I1119F |
possibly damaging |
Het |
Nav2 |
A |
T |
7: 49,141,204 (GRCm39) |
Q916H |
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,402 (GRCm39) |
I23F |
probably benign |
Het |
P2rx4 |
G |
A |
5: 122,865,814 (GRCm39) |
V329M |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,754,279 (GRCm39) |
|
probably benign |
Het |
Pgp |
T |
C |
17: 24,690,375 (GRCm39) |
L267P |
probably damaging |
Het |
Pou2af2 |
G |
A |
9: 51,201,504 (GRCm39) |
T184M |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,859,520 (GRCm39) |
S1257A |
probably benign |
Het |
Prr12 |
T |
C |
7: 44,695,164 (GRCm39) |
N1434S |
unknown |
Het |
Psmc3ip |
A |
T |
11: 100,985,999 (GRCm39) |
H40Q |
probably damaging |
Het |
Ptprc |
A |
T |
1: 138,016,283 (GRCm39) |
N526K |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,667,249 (GRCm39) |
D138E |
probably damaging |
Het |
Serpinb13 |
A |
G |
1: 106,926,663 (GRCm39) |
N220D |
probably benign |
Het |
Siva1 |
G |
A |
12: 112,611,344 (GRCm39) |
|
probably benign |
Het |
Slc39a12 |
A |
G |
2: 14,454,728 (GRCm39) |
H546R |
probably damaging |
Het |
Slc7a1 |
G |
A |
5: 148,271,468 (GRCm39) |
A497V |
probably benign |
Het |
Smg5 |
G |
T |
3: 88,249,859 (GRCm39) |
K95N |
probably damaging |
Het |
Speer1a |
G |
A |
5: 11,394,134 (GRCm39) |
V78M |
probably damaging |
Het |
Traj50 |
T |
A |
14: 54,405,101 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,813,472 (GRCm39) |
V1261A |
probably damaging |
Het |
Zc3h11a |
A |
T |
1: 133,566,700 (GRCm39) |
|
probably null |
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 |
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'- GGTAGTAAATGCACACAACTCTAGTG -3'
(R):5'- GGGTTCAAATTAATCCTAGTATGGC -3'
Sequencing Primer
(F):5'- GCACACAACTCTAGTGTATAACATTG -3'
(R):5'- TAACCATCATCAACATTTTCCAGTC -3'
|
Posted On |
2018-09-12 |