Incidental Mutation 'R5522:Ncam2'
| ID |
431638 |
| 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 |
043081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5522 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 81231766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 77
(R77*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037785
AA Change: R77*
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: R77*
| 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 null
Transcript: ENSMUST00000067602
AA Change: R77*
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: R77*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 93.9%
- 20x: 85.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,649,704 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,731,671 (GRCm39) |
|
probably null |
Het |
| Cd69 |
A |
T |
6: 129,248,379 (GRCm39) |
S36T |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,449,005 (GRCm39) |
I124L |
probably benign |
Het |
| Cerkl |
T |
C |
2: 79,223,328 (GRCm39) |
H131R |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,453,085 (GRCm39) |
N539K |
probably benign |
Het |
| Cyp4x1 |
C |
A |
4: 114,979,174 (GRCm39) |
W141L |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,993 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
G |
A |
2: 130,656,222 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,296,954 (GRCm39) |
I5781T |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,867 (GRCm39) |
V101E |
probably damaging |
Het |
| Exph5 |
T |
C |
9: 53,285,613 (GRCm39) |
F898S |
possibly damaging |
Het |
| Fyco1 |
G |
A |
9: 123,623,836 (GRCm39) |
R1398* |
probably null |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,886,746 (GRCm39) |
I508V |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,833,258 (GRCm39) |
Q473K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,556,755 (GRCm39) |
D109V |
probably damaging |
Het |
| Ipmk |
C |
A |
10: 71,199,304 (GRCm39) |
T55K |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,087,225 (GRCm39) |
Y192H |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,977,497 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,620 (GRCm39) |
L178Q |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,122,211 (GRCm39) |
K320N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,685,783 (GRCm39) |
L858S |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,464,353 (GRCm39) |
F198Y |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,696,744 (GRCm39) |
T647A |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,453 (GRCm39) |
Y433H |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,061,972 (GRCm39) |
V717A |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,484 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,268 (GRCm39) |
L73F |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,798 (GRCm39) |
D16V |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,520 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,402 (GRCm39) |
I108V |
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,710,584 (GRCm39) |
T6S |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,298 (GRCm39) |
V317E |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,708,195 (GRCm39) |
Y406* |
probably null |
Het |
| Scamp3 |
T |
C |
3: 89,084,929 (GRCm39) |
F11L |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,964,146 (GRCm39) |
N142S |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,349 (GRCm39) |
S128P |
probably benign |
Het |
| Snrnp70 |
C |
T |
7: 45,026,601 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,945,816 (GRCm39) |
K596R |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,422,230 (GRCm39) |
|
probably null |
Het |
| Taok3 |
A |
G |
5: 117,411,822 (GRCm39) |
T414A |
probably benign |
Het |
| Tmem104 |
G |
A |
11: 115,079,149 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
T |
A |
8: 112,645,042 (GRCm39) |
S155C |
possibly damaging |
Het |
| Tssk3 |
G |
A |
4: 129,383,343 (GRCm39) |
R110W |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,759 (GRCm39) |
T485A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,613,974 (GRCm39) |
K292E |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,845,497 (GRCm39) |
|
probably null |
Het |
| Usp24 |
T |
A |
4: 106,229,918 (GRCm39) |
V797E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,929 (GRCm39) |
T1872A |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,120 (GRCm39) |
M197V |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,661,718 (GRCm39) |
D578E |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,909,090 (GRCm39) |
Y810* |
probably null |
Het |
| Zcchc2 |
A |
G |
1: 105,951,426 (GRCm39) |
N587S |
probably benign |
Het |
| Zfp189 |
C |
T |
4: 49,529,739 (GRCm39) |
R281* |
probably null |
Het |
| Zranb1 |
T |
C |
7: 132,585,678 (GRCm39) |
*735R |
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 |
|
|
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'- AGTTTCAGATCTCCAGGCTTCTG -3'
(R):5'- GTTTGAGTCCTTCCTGATGAAAC -3'
Sequencing Primer
(F):5'- AGATCTCCAGGCTTCTGTTTACAC -3'
(R):5'- GAAACTGCTGTGTCAATGACC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation