Incidental Mutation 'R8078:Ncam2'
| ID |
629162 |
| 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 |
067512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8078 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
80997585-81423716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81240136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 199
(R199L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037785]
[ENSMUST00000067602]
|
| AlphaFold |
O35136 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037785
AA Change: R199L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: R199L
| 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 |
possibly damaging
Transcript: ENSMUST00000067602
AA Change: R199L
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: R199L
| 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 |
0.2858 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,251,279 (GRCm39) |
V2884I |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,490 (GRCm39) |
N147K |
probably benign |
Het |
| Agpat2 |
C |
A |
2: 26,494,113 (GRCm39) |
C37F |
possibly damaging |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,494,854 (GRCm39) |
|
probably null |
Het |
| Bcas1 |
T |
C |
2: 170,260,532 (GRCm39) |
E49G |
possibly damaging |
Het |
| Birc2 |
A |
G |
9: 7,858,742 (GRCm39) |
V331A |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,168,626 (GRCm39) |
V314A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,749 (GRCm39) |
V2407A |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,445,448 (GRCm39) |
N446K |
possibly damaging |
Het |
| Clec9a |
A |
G |
6: 129,385,996 (GRCm39) |
S27G |
probably benign |
Het |
| Coro1c |
G |
T |
5: 114,020,164 (GRCm39) |
A17E |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx55 |
G |
A |
5: 124,704,451 (GRCm39) |
V353M |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,513,712 (GRCm39) |
S836T |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,107,582 (GRCm39) |
D22E |
probably damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,099 (GRCm39) |
C237S |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,800,357 (GRCm39) |
V17A |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,674,919 (GRCm39) |
G1055C |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,235,333 (GRCm39) |
Y123H |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,200,225 (GRCm39) |
I380F |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,577 (GRCm39) |
N584K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,942 (GRCm39) |
E363G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,289 (GRCm39) |
T1829S |
|
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Luzp2 |
T |
A |
7: 54,702,510 (GRCm39) |
Y24* |
probably null |
Het |
| Masp2 |
A |
T |
4: 148,698,235 (GRCm39) |
T439S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,559,226 (GRCm39) |
W49* |
probably null |
Het |
| Mtor |
T |
G |
4: 148,552,744 (GRCm39) |
I749S |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,612,078 (GRCm39) |
V1241D |
unknown |
Het |
| Nyap2 |
A |
G |
1: 81,218,772 (GRCm39) |
S265G |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,813,615 (GRCm39) |
D268V |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,061,519 (GRCm39) |
F175I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,022,054 (GRCm39) |
T823A |
|
Het |
| Phc2 |
T |
A |
4: 128,604,855 (GRCm39) |
I197N |
probably damaging |
Het |
| Plaat3 |
C |
T |
19: 7,556,526 (GRCm39) |
T109I |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,107 (GRCm39) |
I518M |
probably benign |
Het |
| Prg2 |
T |
A |
2: 84,812,604 (GRCm39) |
C105S |
probably benign |
Het |
| Rab39 |
A |
G |
9: 53,617,255 (GRCm39) |
L54P |
possibly damaging |
Het |
| Rell1 |
T |
A |
5: 64,097,064 (GRCm39) |
|
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc4a4 |
T |
C |
5: 89,327,566 (GRCm39) |
Y668H |
probably benign |
Het |
| Sncg |
C |
A |
14: 34,096,727 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,863,263 (GRCm39) |
D137G |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,112,803 (GRCm39) |
G750D |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,981,825 (GRCm39) |
D61V |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,393,392 (GRCm39) |
H102Q |
probably damaging |
Het |
| Tmem150a |
T |
A |
6: 72,335,306 (GRCm39) |
L95H |
probably damaging |
Het |
| Tnfrsf11a |
A |
T |
1: 105,745,409 (GRCm39) |
D149V |
probably damaging |
Het |
| Tsc22d2 |
C |
A |
3: 58,323,453 (GRCm39) |
A115E |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,507 (GRCm39) |
F431Y |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r85 |
C |
A |
10: 130,265,364 (GRCm39) |
E40* |
probably null |
Het |
| Zfp606 |
G |
A |
7: 12,214,942 (GRCm39) |
A57T |
possibly damaging |
Het |
| Zfp760 |
T |
C |
17: 21,942,436 (GRCm39) |
V537A |
probably benign |
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 |
|
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'- CTAGACTCAGCCTCAATACCTG -3'
(R):5'- AAGATTTTATCAGGACCTGTGGGG -3'
Sequencing Primer
(F):5'- TAGACTCAGCCTCAATACCTGATGTC -3'
(R):5'- TTGGCAGAATCAAGCTGTCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation