Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Rapsn'

598813

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

045831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90865965-90876074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90875293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 359 (T359A)

Ref Sequence

ENSEMBL: ENSMUSP00000054150 (fasta)

Gene Model

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

AlphaFold

P12672

Predicted Effect

probably benign
Transcript: ENSMUST00000050323
AA Change: T359A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: T359A

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
AA Change: T300A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: T300A

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 benign
Transcript: ENSMUST00000111446
AA Change: T306A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107073
Gene: ENSMUSG00000002104
AA Change: T306A

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

0.0699

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Car4	T	C	11: 84,856,449 (GRCm39)	S246P	probably damaging	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kif26b	T	A	1: 178,692,441 (GRCm39)	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	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
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
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'- GAAAGGCACCTTCTTAGCCCTG -3'
(R):5'- GATGATAAGAATGACCCCGCC -3'

Sequencing Primer
(F):5'- AGCCCTGCCTCTCGTTGAG -3'
(R):5'- GTGAGAACACACCGAGGCC -3'

Posted On

2019-11-26