Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02951:Rims2'

366006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

2810036I15Rik, Syt3-rs, RIM2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

39198261-39684372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39534938 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1078 (R1078C)

Ref Sequence

ENSEMBL: ENSMUSP00000154153 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042917
AA Change: R1100C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: R1100C

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 damaging
Transcript: ENSMUST00000227243
AA Change: R1078C

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

Predicted Effect

unknown
Transcript: ENSMUST00000227381
AA Change: R798C

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,454,702		probably benign	Het
Acot10	G	A	15: 20,665,782	T291I	probably benign	Het
Atp13a3	A	G	16: 30,338,621		probably null	Het
Atp2a1	C	T	7: 126,450,227	V548M	possibly damaging	Het
Bsn	G	A	9: 108,115,613	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,650,006	M425T	probably damaging	Het
Cdh23	A	G	10: 60,311,364	L2733S	probably damaging	Het
Chd3	C	T	11: 69,361,048		probably null	Het
Dock2	T	C	11: 34,310,448		probably benign	Het
Elfn2	T	C	15: 78,671,882	K822E	probably damaging	Het
Eps15l1	G	A	8: 72,358,396	S764L	probably benign	Het
Etl4	C	A	2: 20,801,537		probably benign	Het
Faap24	C	A	7: 35,392,951	K180N	probably damaging	Het
Fam205a1	C	T	4: 42,850,696	E487K	probably benign	Het
Fhod1	G	A	8: 105,331,230	R888W	probably damaging	Het
Fus	T	C	7: 127,981,837		probably benign	Het
Gm3453	T	C	14: 5,976,168	E201G	possibly damaging	Het
Gm5346	T	G	8: 43,627,088	H33P	possibly damaging	Het
Gnpat	G	T	8: 124,870,905	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,332,819		probably benign	Het
Gsta1	A	T	9: 78,242,537	K211*	probably null	Het
Lct	G	T	1: 128,300,211	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,427,636	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,775,452		probably benign	Het
Mst1r	G	T	9: 107,908,204	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,881,301	D299G	probably damaging	Het
Myo6	G	A	9: 80,264,234	V506I	possibly damaging	Het
Nadk	A	C	4: 155,587,476	K271Q	probably benign	Het
Nbas	A	G	12: 13,362,541	R954G	probably benign	Het
Nbr1	T	A	11: 101,571,979		probably null	Het
Nup88	T	C	11: 70,944,872	D587G	possibly damaging	Het
Oas1a	A	T	5: 120,905,664	F135Y	probably damaging	Het
Obscn	A	G	11: 58,994,513		probably benign	Het
Odf3l2	T	C	10: 79,639,977	N251S	probably benign	Het
Olfr1290	T	G	2: 111,490,120	I13L	probably benign	Het
Parp14	G	A	16: 35,858,533	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,025,118	S60P	probably benign	Het
Prp2	A	G	6: 132,599,825	N25S	unknown	Het
Ptprq	A	T	10: 107,667,460	F779Y	probably benign	Het
Rnf38	G	T	4: 44,129,619	S425*	probably null	Het
Rps21	T	A	2: 180,258,047	I59N	probably damaging	Het
Scn5a	A	T	9: 119,495,685	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,564,768	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,255,315	F15L	probably benign	Het
Snapc4	A	C	2: 26,370,835	N465K	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Taco1	A	G	11: 106,069,527	N98S	probably benign	Het
Tcea3	T	C	4: 136,257,988		probably null	Het
Thada	T	C	17: 84,444,028	S507G	probably benign	Het
Tmem132b	T	A	5: 125,787,547	C906S	probably damaging	Het
Trpm2	A	T	10: 77,929,278	I963N	possibly damaging	Het
Usp10	A	G	8: 119,947,086	T397A	probably benign	Het
Usp3	G	A	9: 66,542,550	R160*	probably null	Het
Utp15	T	C	13: 98,257,952	Y144C	probably damaging	Het
Xpc	G	A	6: 91,506,849	R172W	probably damaging	Het

Other mutations in Rims2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Rims2	APN	15	39459615	missense	probably benign	0.11
IGL00502:Rims2	APN	15	39506984	missense	probably damaging	1.00
IGL00556:Rims2	APN	15	39456674	splice site	probably null
IGL00811:Rims2	APN	15	39292149	missense	probably damaging	1.00
IGL00827:Rims2	APN	15	39472359	missense	probably damaging	0.99
IGL01642:Rims2	APN	15	39457796	missense	probably damaging	1.00
IGL03009:Rims2	APN	15	39566997	missense	possibly damaging	0.85
IGL03080:Rims2	APN	15	39535903	missense	probably damaging	1.00
IGL03102:Rims2	APN	15	39459593	missense	possibly damaging	0.95
IGL03252:Rims2	APN	15	39452352	missense	probably benign
IGL03365:Rims2	APN	15	39476541	missense	probably damaging	1.00
IGL03393:Rims2	APN	15	39462613	splice site	probably null
IGL03409:Rims2	APN	15	39456733	missense	probably damaging	1.00
PIT4486001:Rims2	UTSW	15	39476520	missense	possibly damaging	0.67
R0009:Rims2	UTSW	15	39534966	missense	probably damaging	0.99
R0009:Rims2	UTSW	15	39534966	missense	probably damaging	0.99
R0078:Rims2	UTSW	15	39534855	missense	probably benign	0.42
R0367:Rims2	UTSW	15	39462615	splice site	probably null
R0401:Rims2	UTSW	15	39509632	splice site	probably benign
R0531:Rims2	UTSW	15	39567030	missense	probably damaging	1.00
R0791:Rims2	UTSW	15	39679625	splice site	probably benign
R0838:Rims2	UTSW	15	39681025	missense	probably benign	0.02
R1201:Rims2	UTSW	15	39616324	missense	possibly damaging	0.91
R1318:Rims2	UTSW	15	39517826	missense	probably damaging	0.99
R1457:Rims2	UTSW	15	39511314	missense	possibly damaging	0.63
R1619:Rims2	UTSW	15	39506986	missense	probably damaging	1.00
R1672:Rims2	UTSW	15	39292189	missense	probably benign	0.09
R1743:Rims2	UTSW	15	39679650	missense	probably benign	0.10
R1766:Rims2	UTSW	15	39462580	missense	probably damaging	0.99
R1779:Rims2	UTSW	15	39681702	missense	probably damaging	1.00
R1804:Rims2	UTSW	15	39437043	nonsense	probably null
R1985:Rims2	UTSW	15	39345314	missense	probably damaging	0.99
R1986:Rims2	UTSW	15	39345314	missense	probably damaging	0.99
R2113:Rims2	UTSW	15	39511326	missense	probably benign	0.17
R2260:Rims2	UTSW	15	39478566	nonsense	probably null
R2510:Rims2	UTSW	15	39585652	missense	probably damaging	1.00
R3693:Rims2	UTSW	15	39478575	missense	probably benign	0.01
R3937:Rims2	UTSW	15	39437845	missense	probably damaging	1.00
R4425:Rims2	UTSW	15	39437924	critical splice donor site	probably null
R4453:Rims2	UTSW	15	39292208	missense	probably damaging	1.00
R4474:Rims2	UTSW	15	39462560	missense	probably damaging	1.00
R4518:Rims2	UTSW	15	39437526	missense	probably damaging	1.00
R4526:Rims2	UTSW	15	39437717	missense	probably damaging	1.00
R4833:Rims2	UTSW	15	39535914	missense	probably damaging	0.98
R4936:Rims2	UTSW	15	39437728	missense	probably damaging	1.00
R4993:Rims2	UTSW	15	39454445	missense	possibly damaging	0.90
R5001:Rims2	UTSW	15	39452428	missense	probably benign	0.03
R5054:Rims2	UTSW	15	39517869	intron	probably null
R5072:Rims2	UTSW	15	39462590	missense	probably benign	0.01
R5171:Rims2	UTSW	15	39437103	missense	probably damaging	1.00
R5429:Rims2	UTSW	15	39345355	missense	probably damaging	1.00
R5623:Rims2	UTSW	15	39478615	missense	probably damaging	1.00
R5624:Rims2	UTSW	15	39345413	missense	possibly damaging	0.46
R5685:Rims2	UTSW	15	39437206	missense	possibly damaging	0.67
R5784:Rims2	UTSW	15	39535987	splice site	probably null
R5790:Rims2	UTSW	15	39681045	missense	probably damaging	1.00
R5822:Rims2	UTSW	15	39476490	missense	probably damaging	1.00
R5963:Rims2	UTSW	15	39437182	missense	probably damaging	1.00
R5988:Rims2	UTSW	15	39292182	missense	probably damaging	1.00
R6057:Rims2	UTSW	15	39675020	missense	probably damaging	1.00
R6239:Rims2	UTSW	15	39198363	start codon destroyed	unknown
R6407:Rims2	UTSW	15	39452328	missense	probably damaging	1.00
R6418:Rims2	UTSW	15	39509696	missense	probably damaging	1.00
R6495:Rims2	UTSW	15	39517812	missense	probably benign	0.01
R6502:Rims2	UTSW	15	39534855	missense	probably benign	0.42
R6753:Rims2	UTSW	15	39566973	missense	possibly damaging	0.74
R6855:Rims2	UTSW	15	39345515	missense	probably benign	0.06
R6948:Rims2	UTSW	15	39511341	missense	probably benign
R7058:Rims2	UTSW	15	39585648	missense	probably damaging	1.00
R7167:Rims2	UTSW	15	39437077	missense	probably benign
R7217:Rims2	UTSW	15	39476489	missense	probably damaging	0.99
R7223:Rims2	UTSW	15	39437032	missense	probably benign	0.30
R7289:Rims2	UTSW	15	39437718	missense	probably benign	0.00
R7459:Rims2	UTSW	15	39517839	missense	probably benign
R7663:Rims2	UTSW	15	39507026	missense	probably damaging	1.00
R7792:Rims2	UTSW	15	39198528	missense	possibly damaging	0.69
X0034:Rims2	UTSW	15	39437534	missense	probably benign

Posted On

2015-12-18