Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Rims2'

427090

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

042995-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39061681-39547768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39208751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 185 (T185S)

Ref Sequence

ENSEMBL: ENSMUSP00000080711 (fasta)

Gene Model

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

AlphaFold

Q9EQZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042917
AA Change: T145S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: T145S

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 damaging
Transcript: ENSMUST00000082054
AA Change: T185S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: T185S

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
AA Change: T145S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	G	7: 75,252,652 (GRCm39)	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,504,837 (GRCm39)	G14R	probably damaging	Het
Auts2	G	A	5: 131,501,173 (GRCm39)	T289M	probably damaging	Het
Btaf1	G	A	19: 36,972,257 (GRCm39)	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,266,055 (GRCm39)	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,552,220 (GRCm39)	V154I	probably damaging	Het
Csde1	A	G	3: 102,960,157 (GRCm39)	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,379,935 (GRCm39)	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dock6	T	C	9: 21,744,177 (GRCm39)	D677G	probably damaging	Het
Filip1l	A	T	16: 57,390,618 (GRCm39)	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Ghr	G	A	15: 3,418,157 (GRCm39)	Q37*	probably null	Het
Gm10770	C	T	2: 150,021,343 (GRCm39)	R58H	probably benign	Het
Gm12789	T	C	4: 101,847,158 (GRCm39)	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,110,792 (GRCm39)	N234K	probably benign	Het
Itih3	A	G	14: 30,645,478 (GRCm39)	V10A	probably benign	Het
Kat14	T	A	2: 144,235,243 (GRCm39)	D234E	probably benign	Het
Kif13a	A	G	13: 46,926,245 (GRCm39)		probably null	Het
Kif2b	A	G	11: 91,468,055 (GRCm39)	V76A	probably benign	Het
Mboat1	A	G	13: 30,403,650 (GRCm39)	T150A	probably benign	Het
Mfsd1	T	A	3: 67,507,293 (GRCm39)	L398H	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343 (GRCm39)	C705R	probably damaging	Het
Or13a27	A	G	7: 139,925,186 (GRCm39)	F239L	possibly damaging	Het
Or2ak5	T	A	11: 58,611,350 (GRCm39)	N175Y	probably damaging	Het
Pcdh10	T	C	3: 45,338,635 (GRCm39)	S931P	probably benign	Het
Pdpk1	T	C	17: 24,310,534 (GRCm39)	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,500,537 (GRCm39)	D452V	probably damaging	Het
Rpusd4	T	C	9: 35,183,898 (GRCm39)	V209A	probably benign	Het
Safb	T	C	17: 56,895,822 (GRCm39)	V20A	probably benign	Het
Scaf8	C	A	17: 3,247,385 (GRCm39)	P903T	probably benign	Het
Slc30a7	A	G	3: 115,800,574 (GRCm39)	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,079,024 (GRCm39)		probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tbc1d32	T	C	10: 55,904,089 (GRCm39)	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,531,522 (GRCm39)	T303N	probably damaging	Het
Tmc1	G	T	19: 20,766,986 (GRCm39)	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,753,606 (GRCm39)	I255T	probably benign	Het
Trim7	G	A	11: 48,740,782 (GRCm39)	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,075 (GRCm39)	Q385*	probably null	Het
Ttc39b	A	G	4: 83,162,190 (GRCm39)	I330T	possibly damaging	Het
Vil1	C	T	1: 74,471,490 (GRCm39)	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077 (GRCm39)	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,382,272 (GRCm39)	E686V	possibly damaging	Het
Zfp998	G	A	13: 66,579,887 (GRCm39)	P199S	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
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
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'- GCTGAAAGCTTTACTTCCCG -3'
(R):5'- AGCTCGGCCTTTCTCAACTG -3'

Sequencing Primer
(F):5'- CAAATCGACTGTCTCTCAAATTCATC -3'
(R):5'- GGCCTTTCTCAACTGCAGGTAC -3'

Posted On

2016-09-01