Incidental Mutation 'R6212:Ncam2'
| ID |
503529 |
| 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 |
044345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81229650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 37
(S37P)
|
| 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: S37P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: S37P
| 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: S37P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: S37P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,172,505 (GRCm39) |
I116N |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,630,207 (GRCm39) |
H821N |
unknown |
Het |
| Apex1 |
C |
T |
14: 51,164,350 (GRCm39) |
P264S |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,251,698 (GRCm39) |
Y10C |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,359,278 (GRCm39) |
T208A |
probably benign |
Het |
| Brd4 |
G |
T |
17: 32,421,423 (GRCm39) |
P771Q |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,307,667 (GRCm39) |
S69G |
probably benign |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,800,888 (GRCm39) |
H2519R |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,439,155 (GRCm39) |
N48I |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,353,255 (GRCm39) |
P2803S |
probably damaging |
Het |
| Dusp26 |
G |
A |
8: 31,584,252 (GRCm39) |
D120N |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,719 (GRCm39) |
H160R |
possibly damaging |
Het |
| Erg |
C |
T |
16: 95,180,022 (GRCm39) |
V215I |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,681,189 (GRCm39) |
D124G |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,139,661 (GRCm39) |
H203R |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,319,373 (GRCm39) |
L59P |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,503 (GRCm39) |
M42V |
possibly damaging |
Het |
| Hk2 |
C |
A |
6: 82,705,823 (GRCm39) |
A827S |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,694 (GRCm39) |
E227G |
probably damaging |
Het |
| Itgax |
C |
A |
7: 127,729,504 (GRCm39) |
H31N |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 127,747,025 (GRCm39) |
D942G |
probably benign |
Het |
| Kars1 |
A |
T |
8: 112,726,829 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
C |
18: 12,646,702 (GRCm39) |
F1739L |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,112,445 (GRCm39) |
L155Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,067,431 (GRCm39) |
D1013V |
probably damaging |
Het |
| Mocs1 |
G |
A |
17: 49,742,224 (GRCm39) |
G118S |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,673,553 (GRCm39) |
|
probably null |
Het |
| Nodal |
C |
T |
10: 61,259,300 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 73,421,950 (GRCm39) |
V999M |
possibly damaging |
Het |
| Oaz3 |
T |
A |
3: 94,342,375 (GRCm39) |
T139S |
probably benign |
Het |
| Or6z6 |
T |
C |
7: 6,491,367 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
A |
G |
9: 19,694,585 (GRCm39) |
D52G |
probably damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,606 (GRCm39) |
T522S |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,554,052 (GRCm39) |
F457S |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,866,729 (GRCm39) |
Y530H |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,270,070 (GRCm39) |
C31S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,220 (GRCm39) |
N24Y |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,709,452 (GRCm39) |
V937A |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,734,830 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,148,861 (GRCm39) |
N2027K |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,884,664 (GRCm39) |
Y565H |
probably benign |
Het |
| Tmem262 |
A |
G |
19: 6,130,668 (GRCm39) |
E62G |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,742,965 (GRCm39) |
|
probably null |
Het |
| Txlnb |
T |
C |
10: 17,675,057 (GRCm39) |
I70T |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,412,923 (GRCm39) |
L25* |
probably null |
Het |
| Zfp326 |
T |
A |
5: 106,058,097 (GRCm39) |
V412E |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,661 (GRCm39) |
R779G |
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 |
|
|
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 |
|
|
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'- GCTGGTAGTAAATGCACACAACTC -3'
(R):5'- GGGTTCAAATTAATCCTAGTATGGC -3'
Sequencing Primer
(F):5'- GGTAGTAAATGCACACAACTCTAGTG -3'
(R):5'- TCTTAGGTACAGATTGCATTT -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation