Mutagenetix > Incidental Mutation

Incidental Mutation 'R6495:Rims2'

520469

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

044627-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39061681-39547768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39381208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1046 (F1046L)

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: F1046L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: F1046L

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

probably benign
Transcript: ENSMUST00000082054

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386

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 benign
Transcript: ENSMUST00000227243

Predicted Effect

probably benign
Transcript: ENSMUST00000227381

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,740,148 (GRCm39)	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,743,132 (GRCm39)	Y321*	probably null	Het
Apob	A	G	12: 8,040,394 (GRCm39)	K577R	probably null	Het
Arfgef3	A	G	10: 18,486,950 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,955,790 (GRCm39)		probably null	Het
Atp13a5	C	T	16: 29,140,440 (GRCm39)		probably null	Het
Bcan	C	A	3: 87,903,904 (GRCm39)	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,036,093 (GRCm39)	T32A	probably benign	Het
Cd82	A	G	2: 93,260,357 (GRCm39)	V90A	probably benign	Het
Chd5	C	T	4: 152,451,829 (GRCm39)	R714C	probably damaging	Het
Cpb2	T	C	14: 75,512,519 (GRCm39)	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 44,002,585 (GRCm39)	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,492,262 (GRCm39)	Q766*	probably null	Het
Dusp3	T	C	11: 101,872,653 (GRCm39)	I48V	probably benign	Het
Eif3c	A	T	7: 126,146,672 (GRCm39)	F809I	probably damaging	Het
Exosc10	C	T	4: 148,647,329 (GRCm39)	P213S	probably benign	Het
Galns	C	T	8: 123,327,349 (GRCm39)	G141D	probably damaging	Het
Gm3233	A	T	10: 77,594,886 (GRCm39)		probably benign	Het
Hadha	A	T	5: 30,325,048 (GRCm39)	L714H	probably benign	Het
Map3k20	T	C	2: 72,198,763 (GRCm39)	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,200,365 (GRCm39)	L217P	probably damaging	Het
Nubp2	A	T	17: 25,104,577 (GRCm39)	D54E	probably damaging	Het
Onecut1	C	T	9: 74,770,497 (GRCm39)	R307C	probably damaging	Het
Or5b116	T	A	19: 13,422,989 (GRCm39)	D204E	probably benign	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,637,159 (GRCm39)	C591S	probably damaging	Het
Pramel15	T	C	4: 144,103,409 (GRCm39)	N239S	probably benign	Het
Pwp2	A	T	10: 78,012,961 (GRCm39)	V549E	probably damaging	Het
Rapsn	A	T	2: 90,866,973 (GRCm39)	S92C	probably damaging	Het
Rbm19	A	G	5: 120,257,745 (GRCm39)	S90G	probably damaging	Het
Rfc1	G	A	5: 65,431,158 (GRCm39)		probably null	Het
S100a16	C	T	3: 90,449,735 (GRCm39)	R73C	probably benign	Het
Shroom3	T	C	5: 93,089,928 (GRCm39)	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,096,388 (GRCm39)	Y253F	possibly damaging	Het
Taar8b	A	G	10: 23,967,160 (GRCm39)	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,676 (GRCm39)	V81I	probably benign	Het
Tas2r129	A	G	6: 132,928,128 (GRCm39)	I22V	probably benign	Het
Tbc1d19	T	G	5: 54,046,555 (GRCm39)		probably null	Het
Tnip3	A	T	6: 65,582,846 (GRCm39)	I218F	probably benign	Het
Tnks	A	T	8: 35,307,120 (GRCm39)		probably null	Het
Ttc29	T	C	8: 79,008,963 (GRCm39)	Y278H	possibly damaging	Het
Tut7	T	C	13: 59,947,753 (GRCm39)	E454G	possibly damaging	Het
Uba7	T	A	9: 107,854,213 (GRCm39)	C214*	probably null	Het
Vmn2r115	A	T	17: 23,578,572 (GRCm39)	I682F	probably benign	Het
Vmn2r75	A	T	7: 85,813,287 (GRCm39)	M505K	probably benign	Het
Wdr19	A	T	5: 65,415,466 (GRCm39)	T1313S	probably benign	Het
Zbtb22	A	G	17: 34,136,224 (GRCm39)	D123G	probably damaging	Het
Zdhhc7	A	G	8: 120,813,395 (GRCm39)	I138T	probably benign	Het
Zfp706	T	C	15: 37,004,045 (GRCm39)	K7R	unknown	Het
Zkscan3	G	A	13: 21,572,075 (GRCm39)	P519L	probably damaging	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
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
R8082:Rims2	UTSW	15	39,339,919 (GRCm39)	missense	probably benign	0.34
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'- GCATATTTCTATGGGCATCGAGAAG -3'
(R):5'- ATGATGGCATCTGTAATAGCTCTC -3'

Sequencing Primer
(F):5'- GATGGCCAAGATTTTCCAGTAGC -3'
(R):5'- AAAGATGATTCTAGTCCATCAAACAG -3'

Posted On

2018-06-06