Incidental Mutation 'R5953:Rapsn'
| ID |
470984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapsn
|
| Ensembl Gene |
ENSMUSG00000002104 |
| Gene Name |
receptor-associated protein of the synapse |
| Synonyms |
43kDa acetylcholine receptor-associated protein, Nraps, rapsyn, Raps |
| MMRRC Submission |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
136 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90865965-90876074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90872308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050323]
[ENSMUST00000111445]
[ENSMUST00000111446]
|
| AlphaFold |
P12672 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050323
AA Change: V214A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: V214A
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
6 |
39 |
5.62e1 |
SMART |
|
Blast:TPR
|
43 |
74 |
2e-10 |
BLAST |
|
TPR
|
83 |
116 |
2.56e1 |
SMART |
|
TPR
|
123 |
156 |
1.11e-2 |
SMART |
|
TPR
|
163 |
196 |
8.29e0 |
SMART |
|
TPR
|
206 |
239 |
1.24e0 |
SMART |
|
Blast:TPR
|
246 |
279 |
1e-14 |
BLAST |
|
TPR
|
286 |
319 |
2.07e1 |
SMART |
|
RING
|
363 |
402 |
2.67e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111445
AA Change: V214A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: V214A
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
6 |
39 |
5.62e1 |
SMART |
|
Blast:TPR
|
43 |
74 |
1e-10 |
BLAST |
|
TPR
|
83 |
116 |
2.56e1 |
SMART |
|
TPR
|
123 |
156 |
1.11e-2 |
SMART |
|
TPR
|
163 |
196 |
8.29e0 |
SMART |
|
TPR
|
206 |
239 |
1.24e0 |
SMART |
|
RING
|
304 |
343 |
2.67e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111446
|
| SMART Domains |
Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
6 |
39 |
5.62e1 |
SMART |
|
Blast:TPR
|
43 |
74 |
1e-10 |
BLAST |
|
TPR
|
83 |
116 |
2.56e1 |
SMART |
|
TPR
|
123 |
156 |
1.11e-2 |
SMART |
|
Blast:TPR
|
193 |
226 |
9e-15 |
BLAST |
|
TPR
|
233 |
266 |
2.07e1 |
SMART |
|
RING
|
310 |
349 |
2.67e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146633
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,229 (GRCm39) |
N532D |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm39) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,833 (GRCm39) |
D180E |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,732 (GRCm39) |
I133F |
possibly damaging |
Het |
| Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Plekhm3 |
C |
T |
1: 64,977,054 (GRCm39) |
E139K |
probably damaging |
Het |
| Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
| S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
| Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
probably benign |
Het |
|
| Other mutations in Rapsn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Rapsn
|
APN |
2 |
90,866,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Rapsn
|
APN |
2 |
90,867,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Rapsn
|
APN |
2 |
90,866,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01707:Rapsn
|
APN |
2 |
90,873,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02322:Rapsn
|
APN |
2 |
90,872,251 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02800:Rapsn
|
APN |
2 |
90,873,584 (GRCm39) |
missense |
probably benign |
|
|
hermitage
|
UTSW |
2 |
90,867,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rasputin
|
UTSW |
2 |
90,866,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tsarina
|
UTSW |
2 |
90,875,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Rapsn
|
UTSW |
2 |
90,867,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0833:Rapsn
|
UTSW |
2 |
90,867,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0836:Rapsn
|
UTSW |
2 |
90,867,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1224:Rapsn
|
UTSW |
2 |
90,873,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Rapsn
|
UTSW |
2 |
90,867,120 (GRCm39) |
nonsense |
probably null |
|
|
R1619:Rapsn
|
UTSW |
2 |
90,873,504 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2891:Rapsn
|
UTSW |
2 |
90,867,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2892:Rapsn
|
UTSW |
2 |
90,867,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2893:Rapsn
|
UTSW |
2 |
90,867,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4135:Rapsn
|
UTSW |
2 |
90,867,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4515:Rapsn
|
UTSW |
2 |
90,873,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5689:Rapsn
|
UTSW |
2 |
90,866,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Rapsn
|
UTSW |
2 |
90,875,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Rapsn
|
UTSW |
2 |
90,866,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Rapsn
|
UTSW |
2 |
90,872,299 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7775:Rapsn
|
UTSW |
2 |
90,875,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7778:Rapsn
|
UTSW |
2 |
90,875,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7896:Rapsn
|
UTSW |
2 |
90,875,300 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9016:Rapsn
|
UTSW |
2 |
90,867,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9118:Rapsn
|
UTSW |
2 |
90,875,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Rapsn
|
UTSW |
2 |
90,872,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Rapsn
|
UTSW |
2 |
90,875,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Rapsn
|
UTSW |
2 |
90,875,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Rapsn
|
UTSW |
2 |
90,873,348 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1176:Rapsn
|
UTSW |
2 |
90,866,943 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTGGCTGTCACAGATC -3'
(R):5'- TTTCAAAGTGGTCCACAGAGG -3'
Sequencing Primer
(F):5'- TGTCACAGATCCCAGGCCTG -3'
(R):5'- ACAGAGAAGCTCCTGGCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation