Incidental Mutation 'R5860:Rapsn'
ID 453820
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 044072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5860 (G1)
Quality Score 171
Status Validated
Chromosome 2
Chromosomal Location 90865965-90876074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90875859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 359 (V359A)
Ref Sequence ENSEMBL: ENSMUSP00000107073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050323] [ENSMUST00000111445] [ENSMUST00000111446]
AlphaFold P12672
Predicted Effect probably damaging
Transcript: ENSMUST00000050323
AA Change: V412A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: V412A

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 damaging
Transcript: ENSMUST00000111445
AA Change: V353A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: V353A

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 damaging
Transcript: ENSMUST00000111446
AA Change: V359A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: V359A

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
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568A12Rik A G 1: 34,524,661 (GRCm39) noncoding transcript Het
A2ml1 T C 6: 128,518,024 (GRCm39) T1421A probably benign Het
Actr8 T A 14: 29,708,242 (GRCm39) Y150* probably null Het
Adamts1 A G 16: 85,595,432 (GRCm39) C249R probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Atf6 A T 1: 170,669,344 (GRCm39) L119H probably damaging Het
Atf6 G A 1: 170,669,345 (GRCm39) L119F possibly damaging Het
B3gat2 G A 1: 23,854,400 (GRCm39) W33* probably null Het
Bach2 A G 4: 32,580,268 (GRCm39) D831G probably damaging Het
Ccnk A T 12: 108,153,466 (GRCm39) I76F probably damaging Het
Cdyl A C 13: 36,042,066 (GRCm39) K368T possibly damaging Het
Chi3l1 A G 1: 134,112,909 (GRCm39) T114A probably benign Het
Cnppd1 A G 1: 75,113,131 (GRCm39) V379A probably benign Het
Col11a2 C A 17: 34,283,159 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,854,399 (GRCm39) S18G probably benign Het
Crybg3 A C 16: 59,385,632 (GRCm39) D197E probably damaging Het
Cryga T C 1: 65,142,527 (GRCm39) probably benign Het
Cthrc1 T C 15: 38,950,080 (GRCm39) C146R probably damaging Het
Cyp2c39 A T 19: 39,525,270 (GRCm39) D191V probably damaging Het
Dchs1 C T 7: 105,421,242 (GRCm39) A393T probably damaging Het
Dhx30 G A 9: 109,913,645 (GRCm39) T1126I probably damaging Het
Dock2 C T 11: 34,206,562 (GRCm39) G1345R probably damaging Het
Dsc1 T C 18: 20,228,081 (GRCm39) E425G probably damaging Het
Dynlt2b A G 16: 32,247,614 (GRCm39) Y143C probably damaging Het
Exosc8 C T 3: 54,642,463 (GRCm39) probably benign Het
Fat1 C T 8: 45,504,166 (GRCm39) A4553V probably benign Het
Flnb T A 14: 7,931,135 (GRCm38) L2119Q probably damaging Het
Fnbp4 T A 2: 90,587,826 (GRCm39) D401E probably benign Het
Glyctk T C 9: 106,032,906 (GRCm39) E369G possibly damaging Het
Gm14149 C A 2: 151,066,225 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,387,174 (GRCm39) L1432P probably damaging Het
Gtpbp4 A T 13: 9,023,196 (GRCm39) S623T probably benign Het
Insc A C 7: 114,390,383 (GRCm39) S85R probably damaging Het
Lgr4 G A 2: 109,821,496 (GRCm39) R126H probably damaging Het
M1ap T A 6: 82,980,795 (GRCm39) L227Q probably damaging Het
Marchf7 T C 2: 60,067,187 (GRCm39) I569T probably damaging Het
Mbd1 C A 18: 74,409,768 (GRCm39) C339* probably null Het
Moxd2 T A 6: 40,857,341 (GRCm39) Y473F probably damaging Het
Mrgpra6 T C 7: 46,839,099 (GRCm39) H2R probably benign Het
Mtus1 T G 8: 41,529,303 (GRCm39) L742F probably damaging Het
Nek11 A G 9: 105,270,160 (GRCm39) Y21H probably benign Het
Notch4 G T 17: 34,801,392 (GRCm39) C1080F probably damaging Het
Nsd3 C A 8: 26,156,107 (GRCm39) P558Q probably damaging Het
Oas1e A T 5: 120,930,015 (GRCm39) S168T probably benign Het
Ogfr T C 2: 180,234,285 (GRCm39) S119P probably damaging Het
Or2y15 A G 11: 49,350,563 (GRCm39) D19G probably damaging Het
Or8g20 T A 9: 39,395,767 (GRCm39) M261L probably benign Het
Pde4dip A G 3: 97,631,504 (GRCm39) I1135T possibly damaging Het
Prex1 G A 2: 166,486,604 (GRCm39) probably benign Het
Ptprf T C 4: 118,068,486 (GRCm39) probably benign Het
Ric1 A G 19: 29,577,245 (GRCm39) S1050G possibly damaging Het
Rnft2 A G 5: 118,366,868 (GRCm39) I290T possibly damaging Het
Senp7 C A 16: 55,975,722 (GRCm39) A476E possibly damaging Het
Serpinh1 G A 7: 98,995,571 (GRCm39) S337L probably damaging Het
Slc5a12 C A 2: 110,427,969 (GRCm39) A8D probably benign Het
Smg5 T A 3: 88,250,214 (GRCm39) C109S probably damaging Het
Speer4b T C 5: 27,705,226 (GRCm39) H49R possibly damaging Het
Tas2r109 T C 6: 132,957,664 (GRCm39) I89V probably benign Het
Tet1 A G 10: 62,648,399 (GRCm39) probably null Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tpgs1 G A 10: 79,505,545 (GRCm39) G101D probably damaging Het
Trim13 T G 14: 61,842,188 (GRCm39) S68R probably damaging Het
Vwf A G 6: 125,620,053 (GRCm39) N1577S Het
Vwf G T 6: 125,656,228 (GRCm39) probably benign Het
Xpr1 T C 1: 155,207,868 (GRCm39) probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zftraf1 A T 15: 76,532,391 (GRCm39) I239N probably damaging Het
Zftraf1 T C 15: 76,540,615 (GRCm39) Y101C probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Rapsn
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5953:Rapsn UTSW 2 90,872,308 (GRCm39) missense probably benign 0.04
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'- TAGACAGTGACCTCCTCGTC -3'
(R):5'- AAGGGTCAGAATCACTAGCAC -3'

Sequencing Primer
(F):5'- AGTGACCTCCTCGTCTGGAAG -3'
(R):5'- GGTCAGAATCACTAGCACCAGGTAC -3'
Posted On 2017-02-10