Mutagenetix > Incidental Mutation

Incidental Mutation 'R8082:Rims2'

629436

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

067515-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R8082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39061681-39547768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39339919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 871 (R871L)

Ref Sequence

ENSEMBL: ENSMUSP00000048719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]

AlphaFold

Q9EQZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042917
AA Change: R871L

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: R871L

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:FYVE_2	30	154	9.5e-18	PFAM
low complexity region	315	335	N/A	INTRINSIC
low complexity region	492	498	N/A	INTRINSIC
low complexity region	511	521	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
PDZ	646	725	8.27e-16	SMART
low complexity region	740	748	N/A	INTRINSIC
C2	790	897	4.08e-21	SMART
low complexity region	905	919	N/A	INTRINSIC
low complexity region	1085	1101	N/A	INTRINSIC
low complexity region	1116	1130	N/A	INTRINSIC
low complexity region	1208	1238	N/A	INTRINSIC
C2	1432	1535	3.78e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082054
AA Change: R911L

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: R911L

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:FYVE_2	76	194	2.2e-11	PFAM
low complexity region	355	375	N/A	INTRINSIC
low complexity region	532	538	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC
low complexity region	567	580	N/A	INTRINSIC
PDZ	686	765	8.27e-16	SMART
low complexity region	780	788	N/A	INTRINSIC
C2	830	937	4.08e-21	SMART
low complexity region	945	959	N/A	INTRINSIC
low complexity region	1075	1086	N/A	INTRINSIC
low complexity region	1166	1196	N/A	INTRINSIC
C2	1390	1493	3.78e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227243
AA Change: R871L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,188,895 (GRCm39)		probably null	Het
4921524J17Rik	G	A	8: 86,136,468 (GRCm39)	A133V	possibly damaging	Het
AAdacl4fm3	A	C	4: 144,441,897 (GRCm39)	F118C	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Ankrd34c	C	A	9: 89,610,768 (GRCm39)	K524N	probably damaging	Het
Bicd2	C	T	13: 49,532,529 (GRCm39)	Q372*	probably null	Het
Cadps2	T	A	6: 23,323,313 (GRCm39)	M1002L	probably damaging	Het
Calcrl	T	C	2: 84,200,786 (GRCm39)	Y86C	possibly damaging	Het
Ccdc141	T	C	2: 76,954,588 (GRCm39)	I220V	probably damaging	Het
Cep152	T	C	2: 125,428,313 (GRCm39)	T773A	probably benign	Het
Cgn	A	G	3: 94,670,368 (GRCm39)	F1029L	probably benign	Het
Cntnap5b	T	A	1: 100,306,941 (GRCm39)	M515K	probably benign	Het
Col6a6	T	A	9: 105,661,129 (GRCm39)	K327*	probably null	Het
Cspg4	A	G	9: 56,793,177 (GRCm39)	Y304C	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dync2i1	T	A	12: 116,177,127 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,807,852 (GRCm39)	A1672V	probably benign	Het
Emilin3	A	C	2: 160,750,066 (GRCm39)	V561G	probably damaging	Het
Fam3c	T	A	6: 22,343,303 (GRCm39)	D12V	unknown	Het
Fam83f	T	C	15: 80,574,119 (GRCm39)	V158A	probably damaging	Het
Fgfbp1	T	C	5: 44,136,621 (GRCm39)	R224G	probably damaging	Het
Gid4	A	G	11: 60,327,273 (GRCm39)	K153E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hic2	A	G	16: 17,076,563 (GRCm39)	H464R	probably damaging	Het
Ilvbl	C	T	10: 78,419,987 (GRCm39)	R602C	probably damaging	Het
Ints15	T	C	5: 143,297,607 (GRCm39)	R147G	probably benign	Het
Izumo1r	T	A	9: 14,805,373 (GRCm39)	D171V	unknown	Het
Kel	T	A	6: 41,680,424 (GRCm39)	E12V	possibly damaging	Het
Klf15	T	C	6: 90,443,466 (GRCm39)	S14P	possibly damaging	Het
Lars1	T	A	18: 42,377,975 (GRCm39)	S147C	probably damaging	Het
Lgals1	C	T	15: 78,814,301 (GRCm39)	A122V	probably benign	Het
Lgsn	C	T	1: 31,243,273 (GRCm39)	H452Y	probably benign	Het
Lrrc37a	T	A	11: 103,348,248 (GRCm39)	I2816F	unknown	Het
Mcoln1	T	A	8: 3,557,420 (GRCm39)	I142K	probably benign	Het
Met	G	A	6: 17,492,312 (GRCm39)	R358Q	probably damaging	Het
Mink1	T	A	11: 70,504,103 (GRCm39)	C1276S	possibly damaging	Het
Mrc1	T	C	2: 14,253,771 (GRCm39)	M264T	probably benign	Het
Mtfr2	C	T	10: 20,229,135 (GRCm39)	T81M	probably benign	Het
Myo5c	G	A	9: 75,182,793 (GRCm39)	A811T	possibly damaging	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Ndufs3	T	C	2: 90,725,208 (GRCm39)	D213G	probably damaging	Het
Or51k1	T	A	7: 103,661,897 (GRCm39)	E4V	probably benign	Het
Or5ac20	T	C	16: 59,104,750 (GRCm39)	T37A	possibly damaging	Het
Or5g9	T	C	2: 85,551,824 (GRCm39)	V25A	probably benign	Het
Or9g8	T	A	2: 85,607,044 (GRCm39)	L39I	probably benign	Het
Otog	C	T	7: 45,939,143 (GRCm39)	R2058C	probably damaging	Het
Pcdh10	A	T	3: 45,336,179 (GRCm39)	K831M	probably damaging	Het
Polr1b	A	G	2: 128,957,652 (GRCm39)	D569G	probably benign	Het
Polr3b	T	C	10: 84,491,927 (GRCm39)	L362P	probably damaging	Het
Shprh	T	A	10: 11,027,555 (GRCm39)	I54N	probably benign	Het
Sipa1l2	T	C	8: 126,218,548 (GRCm39)	D263G	possibly damaging	Het
Slc43a1	C	T	2: 84,687,244 (GRCm39)	R382C	probably benign	Het
Sorbs1	T	C	19: 40,353,527 (GRCm39)	R193G	probably benign	Het
Spata31e5	T	A	1: 28,816,579 (GRCm39)	K484N	probably benign	Het
Sry	T	A	Y: 2,662,589 (GRCm39)	Q357L	unknown	Het
Taar8b	T	A	10: 23,967,789 (GRCm39)	D135V	possibly damaging	Het
Tekt3	T	G	11: 62,961,056 (GRCm39)	V75G	probably benign	Het
Tm7sf2	A	G	19: 6,116,351 (GRCm39)	L198P	probably damaging	Het
Tuba1a	C	T	15: 98,848,742 (GRCm39)	V177I	probably benign	Het

Other mutations in Rims2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Rims2	APN	15	39,323,011 (GRCm39)	missense	probably benign	0.11
IGL00502:Rims2	APN	15	39,370,380 (GRCm39)	missense	probably damaging	1.00
IGL00556:Rims2	APN	15	39,320,070 (GRCm39)	splice site	probably null
IGL00811:Rims2	APN	15	39,155,544 (GRCm39)	missense	probably damaging	1.00
IGL00827:Rims2	APN	15	39,335,755 (GRCm39)	missense	probably damaging	0.99
IGL01642:Rims2	APN	15	39,321,192 (GRCm39)	missense	probably damaging	1.00
IGL02951:Rims2	APN	15	39,398,334 (GRCm39)	missense	probably damaging	1.00
IGL03009:Rims2	APN	15	39,430,393 (GRCm39)	missense	possibly damaging	0.85
IGL03080:Rims2	APN	15	39,399,299 (GRCm39)	missense	probably damaging	1.00
IGL03102:Rims2	APN	15	39,322,989 (GRCm39)	missense	possibly damaging	0.95
IGL03252:Rims2	APN	15	39,315,748 (GRCm39)	missense	probably benign
IGL03365:Rims2	APN	15	39,339,937 (GRCm39)	missense	probably damaging	1.00
IGL03393:Rims2	APN	15	39,326,009 (GRCm39)	splice site	probably null
IGL03409:Rims2	APN	15	39,320,129 (GRCm39)	missense	probably damaging	1.00
rhyme	UTSW	15	39,315,724 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Rims2	UTSW	15	39,339,916 (GRCm39)	missense	possibly damaging	0.67
R0009:Rims2	UTSW	15	39,398,362 (GRCm39)	missense	probably damaging	0.99
R0009:Rims2	UTSW	15	39,398,362 (GRCm39)	missense	probably damaging	0.99
R0078:Rims2	UTSW	15	39,398,251 (GRCm39)	missense	probably benign	0.42
R0367:Rims2	UTSW	15	39,326,011 (GRCm39)	splice site	probably null
R0401:Rims2	UTSW	15	39,373,028 (GRCm39)	splice site	probably benign
R0531:Rims2	UTSW	15	39,430,426 (GRCm39)	missense	probably damaging	1.00
R0791:Rims2	UTSW	15	39,543,021 (GRCm39)	splice site	probably benign
R0838:Rims2	UTSW	15	39,544,421 (GRCm39)	missense	probably benign	0.02
R1201:Rims2	UTSW	15	39,479,720 (GRCm39)	missense	possibly damaging	0.91
R1318:Rims2	UTSW	15	39,381,222 (GRCm39)	missense	probably damaging	0.99
R1457:Rims2	UTSW	15	39,374,710 (GRCm39)	missense	possibly damaging	0.63
R1619:Rims2	UTSW	15	39,370,382 (GRCm39)	missense	probably damaging	1.00
R1672:Rims2	UTSW	15	39,155,584 (GRCm39)	missense	probably benign	0.09
R1743:Rims2	UTSW	15	39,543,046 (GRCm39)	missense	probably benign	0.10
R1766:Rims2	UTSW	15	39,325,976 (GRCm39)	missense	probably damaging	0.99
R1779:Rims2	UTSW	15	39,545,098 (GRCm39)	missense	probably damaging	1.00
R1804:Rims2	UTSW	15	39,300,439 (GRCm39)	nonsense	probably null
R1985:Rims2	UTSW	15	39,208,710 (GRCm39)	missense	probably damaging	0.99
R1986:Rims2	UTSW	15	39,208,710 (GRCm39)	missense	probably damaging	0.99
R2113:Rims2	UTSW	15	39,374,722 (GRCm39)	missense	probably benign	0.17
R2260:Rims2	UTSW	15	39,341,962 (GRCm39)	nonsense	probably null
R2510:Rims2	UTSW	15	39,449,048 (GRCm39)	missense	probably damaging	1.00
R3693:Rims2	UTSW	15	39,341,971 (GRCm39)	missense	probably benign	0.01
R3937:Rims2	UTSW	15	39,301,241 (GRCm39)	missense	probably damaging	1.00
R4425:Rims2	UTSW	15	39,301,320 (GRCm39)	critical splice donor site	probably null
R4453:Rims2	UTSW	15	39,155,603 (GRCm39)	missense	probably damaging	1.00
R4474:Rims2	UTSW	15	39,325,956 (GRCm39)	missense	probably damaging	1.00
R4518:Rims2	UTSW	15	39,300,922 (GRCm39)	missense	probably damaging	1.00
R4526:Rims2	UTSW	15	39,301,113 (GRCm39)	missense	probably damaging	1.00
R4833:Rims2	UTSW	15	39,399,310 (GRCm39)	missense	probably damaging	0.98
R4936:Rims2	UTSW	15	39,301,124 (GRCm39)	missense	probably damaging	1.00
R4993:Rims2	UTSW	15	39,317,841 (GRCm39)	missense	possibly damaging	0.90
R5001:Rims2	UTSW	15	39,315,824 (GRCm39)	missense	probably benign	0.03
R5054:Rims2	UTSW	15	39,381,265 (GRCm39)	splice site	probably null
R5072:Rims2	UTSW	15	39,325,986 (GRCm39)	missense	probably benign	0.01
R5171:Rims2	UTSW	15	39,300,499 (GRCm39)	missense	probably damaging	1.00
R5429:Rims2	UTSW	15	39,208,751 (GRCm39)	missense	probably damaging	1.00
R5623:Rims2	UTSW	15	39,342,011 (GRCm39)	missense	probably damaging	1.00
R5624:Rims2	UTSW	15	39,208,809 (GRCm39)	missense	possibly damaging	0.46
R5685:Rims2	UTSW	15	39,300,602 (GRCm39)	missense	possibly damaging	0.67
R5784:Rims2	UTSW	15	39,399,383 (GRCm39)	splice site	probably null
R5790:Rims2	UTSW	15	39,544,441 (GRCm39)	missense	probably damaging	1.00
R5822:Rims2	UTSW	15	39,339,886 (GRCm39)	missense	probably damaging	1.00
R5963:Rims2	UTSW	15	39,300,578 (GRCm39)	missense	probably damaging	1.00
R5988:Rims2	UTSW	15	39,155,577 (GRCm39)	missense	probably damaging	1.00
R6057:Rims2	UTSW	15	39,538,416 (GRCm39)	missense	probably damaging	1.00
R6239:Rims2	UTSW	15	39,061,758 (GRCm39)	start codon destroyed	unknown
R6407:Rims2	UTSW	15	39,315,724 (GRCm39)	missense	probably damaging	1.00
R6418:Rims2	UTSW	15	39,373,092 (GRCm39)	missense	probably damaging	1.00
R6495:Rims2	UTSW	15	39,381,208 (GRCm39)	missense	probably benign	0.01
R6502:Rims2	UTSW	15	39,398,251 (GRCm39)	missense	probably benign	0.42
R6753:Rims2	UTSW	15	39,430,369 (GRCm39)	missense	possibly damaging	0.74
R6855:Rims2	UTSW	15	39,208,911 (GRCm39)	missense	probably benign	0.06
R6948:Rims2	UTSW	15	39,374,737 (GRCm39)	missense	probably benign
R7058:Rims2	UTSW	15	39,449,044 (GRCm39)	missense	probably damaging	1.00
R7167:Rims2	UTSW	15	39,300,473 (GRCm39)	missense	probably benign
R7217:Rims2	UTSW	15	39,339,885 (GRCm39)	missense	probably damaging	0.99
R7223:Rims2	UTSW	15	39,300,428 (GRCm39)	missense	probably benign	0.30
R7289:Rims2	UTSW	15	39,301,114 (GRCm39)	missense	probably benign	0.00
R7459:Rims2	UTSW	15	39,381,235 (GRCm39)	missense	probably benign
R7663:Rims2	UTSW	15	39,370,422 (GRCm39)	missense	probably damaging	1.00
R7792:Rims2	UTSW	15	39,061,923 (GRCm39)	missense	possibly damaging	0.69
R7836:Rims2	UTSW	15	39,544,475 (GRCm39)	missense	probably damaging	1.00
R8489:Rims2	UTSW	15	39,479,846 (GRCm39)	missense	probably damaging	1.00
R8730:Rims2	UTSW	15	39,381,239 (GRCm39)	missense	probably benign	0.01
R8830:Rims2	UTSW	15	39,300,758 (GRCm39)	missense	possibly damaging	0.64
R8857:Rims2	UTSW	15	39,543,044 (GRCm39)	missense	possibly damaging	0.95
R8893:Rims2	UTSW	15	39,398,350 (GRCm39)	missense	probably benign	0.02
R9010:Rims2	UTSW	15	39,315,786 (GRCm39)	nonsense	probably null
R9030:Rims2	UTSW	15	39,339,873 (GRCm39)	missense	probably damaging	1.00
R9287:Rims2	UTSW	15	39,543,086 (GRCm39)	missense	probably damaging	1.00
R9395:Rims2	UTSW	15	39,155,664 (GRCm39)	missense	probably damaging	1.00
R9451:Rims2	UTSW	15	39,300,724 (GRCm39)	missense	probably damaging	1.00
R9506:Rims2	UTSW	15	39,335,832 (GRCm39)	missense	probably damaging	0.97
X0034:Rims2	UTSW	15	39,300,930 (GRCm39)	missense	probably benign
Z1177:Rims2	UTSW	15	39,544,510 (GRCm39)	missense	probably damaging	1.00
Z1177:Rims2	UTSW	15	39,342,086 (GRCm39)	frame shift	probably null
Z1177:Rims2	UTSW	15	39,301,165 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GCTGGGAATATAAACCTTACTTGAC -3'
(R):5'- ACACACTCATCTTTGCTAAGGATCTC -3'

Sequencing Primer
(F):5'- ATAAACCTTACTTGACTTTTTCCCTG -3'
(R):5'- GCAGTGAATTTGTTCTGCTA -3'

Posted On

2020-06-30