Mutagenetix > Incidental Mutation

Incidental Mutation 'R7644:Rapsn'

590397

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

045723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90865965-90876074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90872299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 211 (H211L)

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: H211L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054150
Gene: ENSMUSG00000002104
AA Change: H211L

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: H211L

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107072
Gene: ENSMUSG00000002104
AA Change: H211L

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

SMART Domains

Protein: ENSMUSP00000107073
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
Blast:TPR	193	226	9e-15	BLAST
TPR	233	266	2.07e1	SMART
RING	310	349	2.67e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	C	T	2: 30,687,966 (GRCm39)	R209Q	possibly damaging	Het
Abl2	A	G	1: 156,443,563 (GRCm39)	D24G	probably benign	Het
Adar	C	T	3: 89,652,826 (GRCm39)	A754V	probably benign	Het
Adcy8	C	T	15: 64,571,218 (GRCm39)	V1172I	possibly damaging	Het
Adgrl2	C	T	3: 148,544,789 (GRCm39)	V769M	probably damaging	Het
Akna	T	A	4: 63,313,634 (GRCm39)	Q163L	possibly damaging	Het
Alox15	C	T	11: 70,236,368 (GRCm39)	A511T	probably null	Het
Ano8	C	T	8: 71,937,474 (GRCm39)	G90D	probably damaging	Het
Aqp5	G	A	15: 99,492,107 (GRCm39)	R235H	probably damaging	Het
B3galt4	A	T	17: 34,169,419 (GRCm39)	V273E	probably damaging	Het
Ccdc125	C	T	13: 100,814,884 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,868 (GRCm39)	R47G	possibly damaging	Het
Celsr2	G	T	3: 108,320,806 (GRCm39)	L669I	probably damaging	Het
Clasp1	T	G	1: 118,440,480 (GRCm39)		probably null	Het
Clec4a2	C	T	6: 123,101,974 (GRCm39)	P43L	probably benign	Het
Cntn1	T	C	15: 92,207,890 (GRCm39)	I827T	probably benign	Het
Col9a1	G	T	1: 24,224,243 (GRCm39)	V142F	unknown	Het
Cplane1	T	A	15: 8,252,611 (GRCm39)	D1944E	probably benign	Het
Cts7	G	T	13: 61,504,782 (GRCm39)	Y23*	probably null	Het
Dcdc2a	T	A	13: 25,291,674 (GRCm39)	Y220N	probably damaging	Het
Dennd2b	A	T	7: 109,156,000 (GRCm39)	L250*	probably null	Het
Dmxl1	T	G	18: 50,026,619 (GRCm39)	V1909G	probably benign	Het
Ehd2	G	A	7: 15,691,474 (GRCm39)	P286L	possibly damaging	Het
Elf3	G	T	1: 135,184,244 (GRCm39)	A208E	possibly damaging	Het
Eml5	A	G	12: 98,822,203 (GRCm39)	I775T	probably benign	Het
Ephb1	T	C	9: 101,813,393 (GRCm39)	T791A	probably damaging	Het
Fanci	C	A	7: 79,094,219 (GRCm39)	S1105*	probably null	Het
Fastkd1	T	A	2: 69,527,184 (GRCm39)		probably null	Het
Fat4	A	G	3: 39,064,390 (GRCm39)	E4782G	possibly damaging	Het
Fnta	T	C	8: 26,503,516 (GRCm39)	I90V	probably damaging	Het
Fosl1	C	T	19: 5,500,332 (GRCm39)	R84*	probably null	Het
Gdf2	T	C	14: 33,666,847 (GRCm39)	F190L	probably benign	Het
Gzmn	T	A	14: 56,404,776 (GRCm39)	Q88L	probably damaging	Het
Hat1	T	A	2: 71,240,525 (GRCm39)	L73Q	probably damaging	Het
Hdhd2	G	A	18: 77,031,871 (GRCm39)	G109E	possibly damaging	Het
Il22ra1	A	G	4: 135,460,346 (GRCm39)	N34S	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kdm6b	T	C	11: 69,291,032 (GRCm39)	N1574S	unknown	Het
Kel	T	C	6: 41,667,742 (GRCm39)	E400G	probably benign	Het
Kif22	G	A	7: 126,632,134 (GRCm39)	T350I	probably damaging	Het
Kif26b	A	G	1: 178,506,839 (GRCm39)	N305S	probably benign	Het
Klk12	A	C	7: 43,419,134 (GRCm39)	Q33P	probably damaging	Het
Klk1b24	G	A	7: 43,841,304 (GRCm39)		probably null	Het
Krtap31-1	T	A	11: 99,799,048 (GRCm39)	C84S	possibly damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Lpin3	T	A	2: 160,738,690 (GRCm39)	M214K	probably benign	Het
Mak	T	A	13: 41,183,586 (GRCm39)	N565Y	probably benign	Het
Mphosph6	T	C	8: 118,528,623 (GRCm39)	T7A	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh11	T	C	16: 14,039,688 (GRCm39)	T814A		Het
Nmbr	T	C	10: 14,636,433 (GRCm39)	L134P	probably damaging	Het
Nup107	C	T	10: 117,606,375 (GRCm39)	V456M	probably damaging	Het
Or56b1b	A	G	7: 108,164,649 (GRCm39)	S118P	possibly damaging	Het
Or8g22	C	A	9: 38,958,638 (GRCm39)	D26Y	probably damaging	Het
Pink1	A	T	4: 138,044,683 (GRCm39)	H351Q	probably damaging	Het
Piwil4	A	T	9: 14,645,711 (GRCm39)		probably null	Het
Pkd1l1	C	A	11: 8,825,758 (GRCm39)	V1498F		Het
Polb	A	G	8: 23,130,443 (GRCm39)	I161T	probably benign	Het
Polg	A	T	7: 79,101,416 (GRCm39)	L1097Q	probably damaging	Het
Prelp	T	C	1: 133,842,356 (GRCm39)	N263S	probably benign	Het
Pten	T	C	19: 32,789,234 (GRCm39)	C211R	probably damaging	Het
Ptprc	G	A	1: 137,995,645 (GRCm39)	A1012V	probably benign	Het
Ptprr	T	A	10: 115,884,133 (GRCm39)	H63Q	probably benign	Het
Reln	T	C	5: 22,183,929 (GRCm39)	N1690S	probably benign	Het
Rpap2	A	G	5: 107,768,167 (GRCm39)	E335G	probably benign	Het
Rspry1	T	A	8: 95,385,396 (GRCm39)	S567T	probably benign	Het
Sf3b1	G	A	1: 55,036,302 (GRCm39)	R924*	probably null	Het
Sftpb	G	A	6: 72,286,818 (GRCm39)	E241K	probably benign	Het
Smarca4	G	T	9: 21,566,950 (GRCm39)	A677S	probably benign	Het
Srrm2	G	A	17: 24,038,294 (GRCm39)	R1646Q	unknown	Het
Tex15	T	A	8: 34,064,445 (GRCm39)	C1292S	probably benign	Het
Tmem140	A	G	6: 34,849,708 (GRCm39)	I75V	probably benign	Het
Trhr2	T	A	8: 123,084,061 (GRCm39)	Q313L	possibly damaging	Het
Trim35	A	G	14: 66,534,546 (GRCm39)	T10A	unknown	Het
Ttn	T	C	2: 76,750,124 (GRCm39)	I3642V	probably benign	Het
Ugt1a2	T	C	1: 88,128,507 (GRCm39)	L50P	probably damaging	Het
Unc13a	C	A	8: 72,087,182 (GRCm39)	V1522L	probably benign	Het
Usp33	A	G	3: 152,063,589 (GRCm39)	D21G	possibly damaging	Het
Vmn1r90	G	A	7: 14,295,616 (GRCm39)	Q161*	probably null	Het
Vmn2r117	A	T	17: 23,696,265 (GRCm39)	W381R	probably damaging	Het
Vmn2r16	G	C	5: 109,487,837 (GRCm39)	A237P	probably damaging	Het
Vmn2r74	A	G	7: 85,606,746 (GRCm39)	V200A	probably benign	Het
Yjefn3	C	T	8: 70,340,544 (GRCm39)	V227M	probably damaging	Het
Zfp652	T	C	11: 95,640,914 (GRCm39)	F280L	probably damaging	Het
Zfp748	G	A	13: 67,689,568 (GRCm39)	T564I	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
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
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'- TTCCCTGGCTGTCACAGATC -3'
(R):5'- TTTTCAAAGTGGTCCACAGAGGC -3'

Sequencing Primer
(F):5'- TGTCACAGATCCCAGGCCTG -3'
(R):5'- ACAGAGAAGCTCCTGGCC -3'

Posted On

2019-10-24