Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Rapsn'

70819

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

038925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0744 (G1)

Quality Score

138

Status

Validated

Chromosome

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

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 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

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

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

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

Meta Mutation Damage Score

0.3493

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	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
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,363,929 (GRCm39)	N600K	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hic1	T	A	11: 75,056,627 (GRCm39)	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	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
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,439,298 (GRCm39)		probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	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
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	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
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGCTCGAAAGCTACCTGAACC -3'
(R):5'- GCCAGTTTAAAACCCATGCCACCTG -3'

Sequencing Primer
(F):5'- AAGCTACCTGAACCTGGCG -3'
(R):5'- AGGTTGATGGCATTGTCTCAAAAG -3'

Posted On

2013-09-30