Incidental Mutation 'R5972:Ncam1'
| ID |
471473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncam1
|
| Ensembl Gene |
ENSMUSG00000039542 |
| Gene Name |
neural cell adhesion molecule 1 |
| Synonyms |
NCAM, NCAM-1, NCAM-120, E-NCAM, CD56, NCAM-140, NCAM-180 |
| MMRRC Submission |
044155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R5972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49413436-49710225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49418829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 824
(T824A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166811]
[ENSMUST00000193547]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166811
|
| SMART Domains |
Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
32 |
103 |
2.88e-4 |
SMART |
|
IGc2
|
130 |
196 |
6.35e-6 |
SMART |
|
IGc2
|
226 |
295 |
6.38e-20 |
SMART |
|
IGc2
|
321 |
393 |
4.12e-14 |
SMART |
|
IGc2
|
418 |
487 |
9.7e-11 |
SMART |
|
FN3
|
501 |
586 |
4.77e-8 |
SMART |
|
FN3
|
602 |
683 |
6.97e-1 |
SMART |
|
transmembrane domain
|
706 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193547
|
| SMART Domains |
Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
32 |
103 |
2.88e-4 |
SMART |
|
IGc2
|
130 |
196 |
6.35e-6 |
SMART |
|
IGc2
|
226 |
295 |
6.38e-20 |
SMART |
|
IGc2
|
321 |
393 |
4.12e-14 |
SMART |
|
IGc2
|
418 |
487 |
9.7e-11 |
SMART |
|
FN3
|
501 |
586 |
4.77e-8 |
SMART |
|
FN3
|
602 |
683 |
6.97e-1 |
SMART |
|
transmembrane domain
|
706 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194252
AA Change: T824A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
| Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
| Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
| Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
| BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
| Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
| Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
| Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
| Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
| Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
| Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
| Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
| Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
| Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
| Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
| Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
| Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
possibly damaging |
Het |
|
| Other mutations in Ncam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Ncam1
|
APN |
9 |
49,434,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Ncam1
|
APN |
9 |
49,421,152 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01798:Ncam1
|
APN |
9 |
49,419,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Ncam1
|
APN |
9 |
49,478,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02368:Ncam1
|
APN |
9 |
49,454,383 (GRCm39) |
nonsense |
probably null |
|
|
IGL02616:Ncam1
|
APN |
9 |
49,419,988 (GRCm39) |
missense |
probably benign |
0.23 |
|
PIT4431001:Ncam1
|
UTSW |
9 |
49,709,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0164:Ncam1
|
UTSW |
9 |
49,479,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Ncam1
|
UTSW |
9 |
49,479,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Ncam1
|
UTSW |
9 |
49,481,118 (GRCm39) |
unclassified |
probably benign |
|
|
R0924:Ncam1
|
UTSW |
9 |
49,473,476 (GRCm39) |
intron |
probably benign |
|
|
R1398:Ncam1
|
UTSW |
9 |
49,428,889 (GRCm39) |
intron |
probably benign |
|
|
R1440:Ncam1
|
UTSW |
9 |
49,456,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Ncam1
|
UTSW |
9 |
49,416,849 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1676:Ncam1
|
UTSW |
9 |
49,468,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Ncam1
|
UTSW |
9 |
49,468,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Ncam1
|
UTSW |
9 |
49,456,556 (GRCm39) |
unclassified |
probably benign |
|
|
R1951:Ncam1
|
UTSW |
9 |
49,456,492 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2143:Ncam1
|
UTSW |
9 |
49,454,319 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2167:Ncam1
|
UTSW |
9 |
49,479,781 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2170:Ncam1
|
UTSW |
9 |
49,709,981 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2290:Ncam1
|
UTSW |
9 |
49,434,951 (GRCm39) |
splice site |
probably benign |
|
|
R2321:Ncam1
|
UTSW |
9 |
49,456,132 (GRCm39) |
unclassified |
probably benign |
|
|
R3001:Ncam1
|
UTSW |
9 |
49,468,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3002:Ncam1
|
UTSW |
9 |
49,468,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4026:Ncam1
|
UTSW |
9 |
49,476,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4279:Ncam1
|
UTSW |
9 |
49,418,259 (GRCm39) |
intron |
probably benign |
|
|
R4289:Ncam1
|
UTSW |
9 |
49,468,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Ncam1
|
UTSW |
9 |
49,418,921 (GRCm39) |
intron |
probably benign |
|
|
R4875:Ncam1
|
UTSW |
9 |
49,418,921 (GRCm39) |
intron |
probably benign |
|
|
R4883:Ncam1
|
UTSW |
9 |
49,453,183 (GRCm39) |
splice site |
probably null |
|
|
R4899:Ncam1
|
UTSW |
9 |
49,456,551 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4923:Ncam1
|
UTSW |
9 |
49,416,779 (GRCm39) |
missense |
probably benign |
|
|
R5041:Ncam1
|
UTSW |
9 |
49,478,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Ncam1
|
UTSW |
9 |
49,709,995 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5386:Ncam1
|
UTSW |
9 |
49,476,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Ncam1
|
UTSW |
9 |
49,456,054 (GRCm39) |
missense |
probably benign |
|
|
R5512:Ncam1
|
UTSW |
9 |
49,420,999 (GRCm39) |
splice site |
probably null |
|
|
R5598:Ncam1
|
UTSW |
9 |
49,457,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Ncam1
|
UTSW |
9 |
49,418,343 (GRCm39) |
missense |
probably benign |
|
|
R6059:Ncam1
|
UTSW |
9 |
49,455,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Ncam1
|
UTSW |
9 |
49,476,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6392:Ncam1
|
UTSW |
9 |
49,434,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6750:Ncam1
|
UTSW |
9 |
49,478,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Ncam1
|
UTSW |
9 |
49,419,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7230:Ncam1
|
UTSW |
9 |
49,421,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7335:Ncam1
|
UTSW |
9 |
49,418,211 (GRCm39) |
missense |
|
|
|
R7561:Ncam1
|
UTSW |
9 |
49,476,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Ncam1
|
UTSW |
9 |
49,476,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Ncam1
|
UTSW |
9 |
49,476,192 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8023:Ncam1
|
UTSW |
9 |
49,421,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8045:Ncam1
|
UTSW |
9 |
49,418,736 (GRCm39) |
missense |
|
|
|
R8234:Ncam1
|
UTSW |
9 |
49,456,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8308:Ncam1
|
UTSW |
9 |
49,479,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8370:Ncam1
|
UTSW |
9 |
49,468,431 (GRCm39) |
nonsense |
probably null |
|
|
R8500:Ncam1
|
UTSW |
9 |
49,431,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Ncam1
|
UTSW |
9 |
49,419,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Ncam1
|
UTSW |
9 |
49,431,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Ncam1
|
UTSW |
9 |
49,418,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Ncam1
|
UTSW |
9 |
49,418,736 (GRCm39) |
missense |
|
|
|
R9034:Ncam1
|
UTSW |
9 |
49,481,198 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9106:Ncam1
|
UTSW |
9 |
49,428,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9224:Ncam1
|
UTSW |
9 |
49,419,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Ncam1
|
UTSW |
9 |
49,456,097 (GRCm39) |
missense |
probably benign |
|
|
X0062:Ncam1
|
UTSW |
9 |
49,456,901 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Ncam1
|
UTSW |
9 |
49,477,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCTGAAGTTGGAGTATCAC -3'
(R):5'- GTGTATGGTTGCATGCCCAC -3'
Sequencing Primer
(F):5'- GAGTATCACTCAGGTCAACCAG -3'
(R):5'- AGCTTCTCTGTCATGTCTCAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation