Incidental Mutation 'IGL00336:Rapsn'
ID 7121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapsn
Ensembl Gene ENSMUSG00000002104
Gene Name receptor-associated protein of the synapse
Synonyms 43kDa acetylcholine receptor-associated protein, Nraps, rapsyn, Raps
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 2
Chromosomal Location 90865965-90876074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90866205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
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: T22A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: T22A

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: T22A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: T22A

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: T22A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: T22A

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: ENSMUST00000118208
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,366 (GRCm39) Y417C probably damaging Het
Adam28 T A 14: 68,859,569 (GRCm39) H548L possibly damaging Het
Agbl3 A T 6: 34,823,771 (GRCm39) D812V probably damaging Het
Aopep A T 13: 63,163,237 (GRCm39) D86V possibly damaging Het
Aox1 T A 1: 58,098,203 (GRCm39) L305Q probably damaging Het
Arhgef38 A G 3: 132,837,812 (GRCm39) V706A probably benign Het
Arl15 A G 13: 114,291,288 (GRCm39) I171V probably benign Het
Cacna1s C A 1: 136,012,011 (GRCm39) Y237* probably null Het
Ccnt1 T C 15: 98,462,990 (GRCm39) T61A possibly damaging Het
Col25a1 T A 3: 129,975,433 (GRCm39) probably benign Het
Col4a1 T A 8: 11,290,077 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,970,455 (GRCm39) E130G possibly damaging Het
Dnah7b G A 1: 46,181,309 (GRCm39) M1065I probably benign Het
Ephb2 T G 4: 136,384,795 (GRCm39) K872T probably damaging Het
Fga G A 3: 82,938,981 (GRCm39) G452D probably damaging Het
Flrt1 T A 19: 7,074,277 (GRCm39) N90I probably damaging Het
Fut10 T A 8: 31,685,319 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr137b T C 13: 13,549,000 (GRCm39) probably benign Het
Gprc5d G A 6: 135,093,488 (GRCm39) Q140* probably null Het
Ifi27l2b T C 12: 103,417,476 (GRCm39) K237R unknown Het
Ipo8 A T 6: 148,684,284 (GRCm39) M836K possibly damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Lama1 A T 17: 68,120,943 (GRCm39) H2693L probably benign Het
Lrrc23 A G 6: 124,755,889 (GRCm39) W40R probably damaging Het
Minar1 T C 9: 89,485,196 (GRCm39) D67G probably damaging Het
Morn2 C A 17: 80,602,933 (GRCm39) probably benign Het
Ms4a6b T A 19: 11,506,854 (GRCm39) N214K possibly damaging Het
Nags A T 11: 102,039,892 (GRCm39) S527C probably damaging Het
Ndst1 C T 18: 60,841,028 (GRCm39) G218D probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or5b94 T A 19: 12,651,924 (GRCm39) Y118* probably null Het
Or8h7 C T 2: 86,720,589 (GRCm39) C310Y probably benign Het
Oxa1l G T 14: 54,600,802 (GRCm39) G92* probably null Het
Parp16 A T 9: 65,137,245 (GRCm39) E157V probably damaging Het
Pcdh17 A T 14: 84,684,984 (GRCm39) I484F probably damaging Het
Pex16 A G 2: 92,209,580 (GRCm39) R263G probably benign Het
Pkd1l3 G A 8: 110,356,869 (GRCm39) E765K possibly damaging Het
Plce1 T C 19: 38,640,350 (GRCm39) V532A probably damaging Het
Polq A G 16: 36,885,609 (GRCm39) probably benign Het
Pramel5 T C 4: 143,998,191 (GRCm39) T351A probably damaging Het
Prokr1 A T 6: 87,565,593 (GRCm39) I84N probably damaging Het
Prss30 A T 17: 24,192,695 (GRCm39) S162T probably benign Het
Ranbp2 A G 10: 58,287,806 (GRCm39) K25E probably damaging Het
Rhoj G T 12: 75,355,680 (GRCm39) G9V probably damaging Het
Rnf213 A G 11: 119,340,169 (GRCm39) R3467G probably benign Het
Rreb1 C A 13: 38,113,622 (GRCm39) S327* probably null Het
Scn5a G A 9: 119,315,290 (GRCm39) P1806L probably damaging Het
Sema6a C A 18: 47,423,042 (GRCm39) probably null Het
Stag3 G A 5: 138,295,921 (GRCm39) E416K probably benign Het
Stpg1 T A 4: 135,256,856 (GRCm39) S216T possibly damaging Het
Tfeb C A 17: 48,102,589 (GRCm39) N426K probably benign Het
Trp53bp1 G T 2: 121,087,060 (GRCm39) Q199K possibly damaging Het
Ubr4 A G 4: 139,155,877 (GRCm39) D2234G probably damaging Het
Ush1c T G 7: 45,846,194 (GRCm39) Q866P probably benign Het
Vdr T A 15: 97,782,735 (GRCm39) D29V probably damaging Het
Vps13c T C 9: 67,853,224 (GRCm39) V2439A probably benign Het
Xirp2 T C 2: 67,342,942 (GRCm39) S1728P possibly damaging Het
Zfp9 A G 6: 118,441,436 (GRCm39) S409P probably damaging Het
Other mutations in Rapsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20