Incidental Mutation 'R8546:Ncam2'
| ID |
659656 |
| 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 |
068511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81314419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 465
(T465I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037785
AA Change: T465I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: T465I
| 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 benign
Transcript: ENSMUST00000067602
AA Change: T465I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: T465I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,064,139 (GRCm39) |
S416P |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,236,769 (GRCm39) |
A214E |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,901,083 (GRCm39) |
W971R |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,473,588 (GRCm39) |
R346H |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,630,397 (GRCm39) |
N399S |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,101 (GRCm39) |
D532G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,769 (GRCm39) |
|
probably benign |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,687 (GRCm39) |
R77G |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,158 (GRCm39) |
S625C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,380,099 (GRCm39) |
|
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,206,102 (GRCm39) |
L281P |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,759 (GRCm39) |
|
probably null |
Het |
| Cyb5rl |
T |
A |
4: 106,925,923 (GRCm39) |
V35D |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,015,101 (GRCm39) |
F381S |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,755,208 (GRCm39) |
N991K |
unknown |
Het |
| Eif6 |
A |
G |
2: 155,668,420 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
T |
C |
17: 25,069,057 (GRCm39) |
M7V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,685,795 (GRCm39) |
T160A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,857,825 (GRCm39) |
V2040I |
probably benign |
Het |
| Gjc2 |
G |
T |
11: 59,067,182 (GRCm39) |
D433E |
unknown |
Het |
| H2bc13 |
G |
A |
13: 21,900,042 (GRCm39) |
T91M |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,264 (GRCm39) |
R377S |
probably benign |
Het |
| Khnyn |
A |
G |
14: 56,123,275 (GRCm39) |
T10A |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,686,242 (GRCm39) |
H389L |
probably damaging |
Het |
| Lin7c |
A |
G |
2: 109,726,716 (GRCm39) |
I122V |
probably null |
Het |
| Lonp1 |
G |
A |
17: 56,933,702 (GRCm39) |
P58S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,027 (GRCm39) |
H142R |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,022,399 (GRCm39) |
N196K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,201 (GRCm39) |
E712G |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,685 (GRCm39) |
T77S |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,484,841 (GRCm39) |
E340G |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,325,634 (GRCm39) |
S490R |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,393,615 (GRCm39) |
S1981N |
possibly damaging |
Het |
| Poll |
T |
A |
19: 45,546,416 (GRCm39) |
D208V |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,374,284 (GRCm39) |
D64G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,480,899 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prmt6 |
C |
T |
3: 110,158,034 (GRCm39) |
R85Q |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,899,156 (GRCm39) |
K140R |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,124 (GRCm39) |
T61A |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,049,570 (GRCm39) |
D795G |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,235 (GRCm39) |
M472L |
probably benign |
Het |
| Tekt5 |
A |
G |
16: 10,175,877 (GRCm39) |
V556A |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,084,374 (GRCm39) |
I68F |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,498,444 (GRCm39) |
N798K |
probably benign |
Het |
| Tuft1 |
T |
A |
3: 94,529,420 (GRCm39) |
E227D |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,710 (GRCm39) |
K146R |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,259,326 (GRCm39) |
A1616T |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,974,607 (GRCm39) |
K452N |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,697 (GRCm39) |
H244Q |
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 |
|
|
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 |
|
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'- ATGCAGGTCTGGAGATAAACATTG -3'
(R):5'- GAAGCTGTAAATATTGTTGACTACCTG -3'
Sequencing Primer
(F):5'- CAGGTCTGGAGATAAACATTGAATTC -3'
(R):5'- GACTACCTGTAAAATTAGTTGAT -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation