Incidental Mutation 'IGL01707:Rapsn'
ID104646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapsn
Ensembl Gene ENSMUSG00000002104
Gene Namereceptor-associated protein of the synapse
SynonymsNraps, rapsyn, 43kDa acetylcholine receptor-associated protein, Raps
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01707
Quality Score
Status
Chromosome2
Chromosomal Location91035620-91045729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91043240 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 297 (M297K)
Ref Sequence ENSEMBL: ENSMUSP00000054150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050323] [ENSMUST00000111445] [ENSMUST00000111446]
Predicted Effect probably benign
Transcript: ENSMUST00000050323
AA Change: M297K

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: M297K

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104

DomainStartEndE-ValueType
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
AA Change: M244K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: M244K

DomainStartEndE-ValueType
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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Camk2a G A 18: 60,960,050 probably null Het
Cd209d T C 8: 3,878,296 I30V probably benign Het
Ces1d A T 8: 93,189,550 S150T possibly damaging Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dbh G A 2: 27,165,544 C10Y probably benign Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr576 T C 7: 102,965,919 I273T probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Rapsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Rapsn APN 2 91035860 missense probably damaging 1.00
IGL01386:Rapsn APN 2 91036799 missense probably damaging 1.00
IGL01517:Rapsn APN 2 91036618 missense probably damaging 1.00
IGL02322:Rapsn APN 2 91041906 missense possibly damaging 0.80
IGL02800:Rapsn APN 2 91043239 missense probably benign
rasputin UTSW 2 91035924 missense probably damaging 1.00
R0744:Rapsn UTSW 2 91036808 missense probably damaging 0.99
R0833:Rapsn UTSW 2 91036808 missense probably damaging 0.99
R0836:Rapsn UTSW 2 91036808 missense probably damaging 0.99
R1224:Rapsn UTSW 2 91043198 missense probably damaging 1.00
R1294:Rapsn UTSW 2 91036775 nonsense probably null
R1619:Rapsn UTSW 2 91043159 missense possibly damaging 0.84
R2891:Rapsn UTSW 2 91036824 missense probably damaging 0.98
R2892:Rapsn UTSW 2 91036824 missense probably damaging 0.98
R2893:Rapsn UTSW 2 91036824 missense probably damaging 0.98
R4135:Rapsn UTSW 2 91036817 missense probably damaging 0.99
R4515:Rapsn UTSW 2 91043212 missense possibly damaging 0.91
R5689:Rapsn UTSW 2 91035924 missense probably damaging 1.00
R5860:Rapsn UTSW 2 91045514 missense probably damaging 1.00
R5953:Rapsn UTSW 2 91041963 missense probably benign 0.04
R6495:Rapsn UTSW 2 91036628 missense probably damaging 1.00
R7644:Rapsn UTSW 2 91041954 missense possibly damaging 0.80
R7775:Rapsn UTSW 2 91044948 missense probably benign 0.02
R7778:Rapsn UTSW 2 91044948 missense probably benign 0.02
R7896:Rapsn UTSW 2 91044955 missense probably benign 0.06
R7979:Rapsn UTSW 2 91044955 missense probably benign 0.06
X0064:Rapsn UTSW 2 91043003 missense probably benign 0.14
Z1176:Rapsn UTSW 2 91036598 missense probably benign 0.10
Posted On2014-01-21