Incidental Mutation 'R0833:Rapsn'
ID 77604
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 039012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90865965-90876074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90867153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 152 (Y152H)
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: Y152H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: Y152H

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: Y152H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: Y152H

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: Y152H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: Y152H

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
Meta Mutation Damage Score 0.3493 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) probably benign 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
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
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'- TCCTGCTCGAAAGCTACCTGAACC -3'
(R):5'- GCCAGTTTAAAACCCATGCCACCTG -3'

Sequencing Primer
(F):5'- AAGCTACCTGAACCTGGCG -3'
(R):5'- AGGTTGATGGCATTGTCTCAAAAG -3'
Posted On 2013-10-16