Mutagenetix > Incidental Mutation

Incidental Mutation 'R1619:Rapsn'

174489

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

039656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1619 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

90865965-90876074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90873504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 270 (D270G)

Ref Sequence

ENSEMBL: ENSMUSP00000054150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050323] [ENSMUST00000111445] [ENSMUST00000111446]

AlphaFold

P12672

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050323
AA Change: D270G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: D270G

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

SMART Domains

Protein: ENSMUSP00000107072
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
TPR	163	196	8.29e0	SMART
TPR	206	239	1.24e0	SMART
RING	304	343	2.67e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111446
AA Change: D217G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: D217G

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,889 (GRCm39)	H1537L	probably damaging	Het
Actg2	T	A	6: 83,500,169 (GRCm39)	N116I	probably damaging	Het
Actn1	G	A	12: 80,219,796 (GRCm39)	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,449,285 (GRCm39)	P36S	probably benign	Het
Agr3	G	A	12: 35,997,858 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,715,805 (GRCm39)	V500A	probably damaging	Het
BC051019	T	A	7: 109,317,269 (GRCm39)	D141V	probably damaging	Het
Bco1	T	C	8: 117,835,454 (GRCm39)	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,485,115 (GRCm39)	K210E	probably damaging	Het
Cckar	A	T	5: 53,857,409 (GRCm39)	W263R	probably damaging	Het
Cela2a	A	G	4: 141,553,252 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,748,159 (GRCm39)	N90K	probably damaging	Het
Ces2g	A	T	8: 105,693,984 (GRCm39)	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,396,736 (GRCm39)	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chrna5	A	G	9: 54,911,649 (GRCm39)	T46A	probably benign	Het
Col16a1	G	A	4: 129,992,733 (GRCm39)	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,573,172 (GRCm39)	V200E	unknown	Het
Csf2rb	A	G	15: 78,219,411 (GRCm39)	D2G	probably damaging	Het
Csmd3	G	A	15: 47,813,346 (GRCm39)	S1062L	probably damaging	Het
Cul5	G	T	9: 53,569,893 (GRCm39)	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 18,814,959 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,029,230 (GRCm39)	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,397,899 (GRCm39)	N33S	probably benign	Het
Epc2	G	A	2: 49,439,990 (GRCm39)	V803I	probably damaging	Het
Erap1	T	A	13: 74,819,500 (GRCm39)	H171Q	probably damaging	Het
Esrrb	T	C	12: 86,561,274 (GRCm39)	V336A	possibly damaging	Het
Fech	A	T	18: 64,595,189 (GRCm39)	W300R	probably damaging	Het
Fgd4	T	C	16: 16,241,920 (GRCm39)	I635V	possibly damaging	Het
Galc	A	T	12: 98,200,563 (GRCm39)	N282K	probably benign	Het
Gpat2	A	G	2: 127,270,637 (GRCm39)	Y95C	probably benign	Het
Grm2	T	A	9: 106,524,670 (GRCm39)	I682F	probably damaging	Het
Hdac10	G	T	15: 89,010,878 (GRCm39)	A241D	probably damaging	Het
Helz	T	A	11: 107,527,105 (GRCm39)	C182*	probably null	Het
Ift140	A	G	17: 25,307,839 (GRCm39)	Y978C	probably damaging	Het
Intu	T	A	3: 40,652,061 (GRCm39)	C839*	probably null	Het
Jmjd1c	T	C	10: 67,055,654 (GRCm39)	V358A	probably benign	Het
Kif26b	A	G	1: 178,744,043 (GRCm39)	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Lrrc2	T	A	9: 110,790,041 (GRCm39)	S99R	probably benign	Het
Mrpl48	G	A	7: 100,195,482 (GRCm39)		probably benign	Het
Mup9	A	G	4: 60,377,878 (GRCm39)		probably benign	Het
Nap1l1	G	A	10: 111,329,240 (GRCm39)	V285I	possibly damaging	Het
Nepro	A	G	16: 44,547,391 (GRCm39)	D36G	probably benign	Het
Nkain4	A	G	2: 180,577,794 (GRCm39)	F187L	probably damaging	Het
Nobox	A	T	6: 43,284,401 (GRCm39)	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,480,596 (GRCm39)	Q70K	probably damaging	Het
Or13j1	A	G	4: 43,706,292 (GRCm39)	I92T	probably damaging	Het
Or1e26	A	T	11: 73,480,118 (GRCm39)	W149R	probably damaging	Het
Or4k37	A	G	2: 111,159,306 (GRCm39)	I181V	probably benign	Het
Or51a43	T	C	7: 103,717,738 (GRCm39)	R167G	probably damaging	Het
Or5b122	T	A	19: 13,562,978 (GRCm39)	F103L	probably benign	Het
Or9r3	A	G	10: 129,948,548 (GRCm39)	I37T	possibly damaging	Het
Pappa	A	G	4: 65,094,466 (GRCm39)	E497G	probably damaging	Het
Pard3	C	A	8: 128,106,983 (GRCm39)	T569K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh10	A	G	3: 45,334,747 (GRCm39)	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,082,194 (GRCm39)	V129A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,487,108 (GRCm39)	H407L	possibly damaging	Het
Phip	A	T	9: 82,753,502 (GRCm39)	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,900,413 (GRCm39)	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,067,846 (GRCm39)	E202G	probably damaging	Het
Rims2	A	C	15: 39,370,382 (GRCm39)	S939R	probably damaging	Het
Ripor3	T	C	2: 167,822,765 (GRCm39)	D932G	probably damaging	Het
Rtp2	A	T	16: 23,749,421 (GRCm39)	W30R	probably damaging	Het
Scgb2b27	A	T	7: 33,711,557 (GRCm39)	D97E	probably benign	Het
Slc25a46	T	C	18: 31,716,542 (GRCm39)	N320S	probably benign	Het
Slc9b1	A	G	3: 135,060,765 (GRCm39)		probably null	Het
Socs4	T	A	14: 47,527,740 (GRCm39)	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,850,247 (GRCm39)	L627*	probably null	Het
Srcin1	A	G	11: 97,416,307 (GRCm39)	L975P	probably damaging	Het
Stard3	T	A	11: 98,267,435 (GRCm39)		probably null	Het
Susd2	G	T	10: 75,473,878 (GRCm39)	S572R	possibly damaging	Het
Tll1	C	A	8: 64,509,307 (GRCm39)	A568S	probably benign	Het
Tmem132a	C	G	19: 10,839,062 (GRCm39)	G460A	probably damaging	Het
Trim62	A	G	4: 128,803,281 (GRCm39)	K444E	probably damaging	Het
Trpm3	A	G	19: 22,689,271 (GRCm39)	T67A	probably damaging	Het
Ttc6	T	C	12: 57,784,454 (GRCm39)	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,078,532 (GRCm39)	V617L	probably damaging	Het
Xkr6	G	A	14: 64,056,766 (GRCm39)	V226M	probably benign	Het
Zfp940	G	A	7: 29,544,962 (GRCm39)	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,473 (GRCm39)	T480K	possibly damaging	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
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'- ACCCCATAGTAGGGTCACATGAGC -3'
(R):5'- TGTTGGTTGAACAGCCCCAGATTG -3'

Sequencing Primer
(F):5'- AGTCCATGAAGATTGCCCTG -3'
(R):5'- AGCCCCAGATTGGGAGC -3'

Posted On

2014-04-24