Incidental Mutation 'R6392:Ncam1'
| ID |
515813 |
| 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 |
044541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R6392 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49413436-49710225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49434875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 624
(K624E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114476]
[ENSMUST00000166811]
[ENSMUST00000193547]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114476
AA Change: K624E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: K624E
| 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 |
|
low complexity region
|
711 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166811
AA Change: K624E
|
| SMART Domains |
Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: K624E
| 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 damaging
Transcript: ENSMUST00000193547
AA Change: K624E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: K624E
| 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 |
unknown
Transcript: ENSMUST00000194252
AA Change: K597E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215465
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
| Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
| Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
| AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
| Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
| Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
| Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
| Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
| Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
| Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
| Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
| Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
| Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
| Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
probably benign |
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 |
|
|
R5972:Ncam1
|
UTSW |
9 |
49,418,829 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- AAGGTAGGTATCAGGGTCCC -3'
(R):5'- TTGAATCTCTGGAAAAGCAAGC -3'
Sequencing Primer
(F):5'- AGGTATCAGGGTCCCAGGTTC -3'
(R):5'- TCTCTGGAAAAGCAAGCAAAGTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation