Mutagenetix > Incidental Mutation

Incidental Mutation 'R8489:Rims2'

657910

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

067932-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39061681-39547768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39479846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1293 (M1293V)

Ref Sequence

ENSEMBL: ENSMUSP00000154153 (fasta)

Gene Model

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

AlphaFold

Q9EQZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042917
AA Change: M1315V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: M1315V

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
AA Change: M1273V

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: M1273V

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: M1293V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,254 (GRCm39)		probably benign	Het
Apc2	T	G	10: 80,143,298 (GRCm39)	L466R	probably damaging	Het
Baz1b	C	A	5: 135,245,709 (GRCm39)	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,533,999 (GRCm39)	D389G	probably benign	Het
Cit	T	A	5: 116,083,962 (GRCm39)		probably null	Het
Cmas	C	A	6: 142,702,596 (GRCm39)	A33E	probably benign	Het
Dcaf7	A	G	11: 105,942,743 (GRCm39)	N230S	probably damaging	Het
Dcun1d5	C	A	9: 7,206,837 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,986,389 (GRCm39)	D58V	probably benign	Het
Dmrt2	C	A	19: 25,655,831 (GRCm39)	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,672,999 (GRCm39)	N90S	probably damaging	Het
Fcgbp	A	T	7: 27,804,435 (GRCm39)	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 129,769,534 (GRCm39)	M522L	probably benign	Het
Fshr	C	A	17: 89,293,795 (GRCm39)	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866 (GRCm39)	I173V	probably benign	Het
Gmnn	A	G	13: 24,941,614 (GRCm39)	S32P	probably damaging	Het
Hdac9	T	C	12: 34,487,180 (GRCm39)	N95D	probably damaging	Het
Ipo13	T	C	4: 117,758,219 (GRCm39)	T715A	probably damaging	Het
Klrc2	A	G	6: 129,635,787 (GRCm39)	S97P	probably benign	Het
Lrrn4	G	A	2: 132,721,364 (GRCm39)	S151L	probably benign	Het
Man2a1	G	T	17: 64,908,765 (GRCm39)	S12I	possibly damaging	Het
Mplkipl1	T	C	19: 61,164,085 (GRCm39)	T117A	probably damaging	Het
Mrgprb8	T	A	7: 48,038,701 (GRCm39)	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,180,128 (GRCm39)	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,150,745 (GRCm39)	K817E	probably damaging	Het
Or51k2	T	C	7: 103,596,328 (GRCm39)	I185T	probably damaging	Het
Or5h27	A	G	16: 59,006,400 (GRCm39)	*149Q	probably null	Het
Or5p60	T	A	7: 107,724,372 (GRCm39)	I33F	probably benign	Het
Or8b50	T	C	9: 38,518,232 (GRCm39)	M157T	probably benign	Het
Pcdh18	A	T	3: 49,709,038 (GRCm39)	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,278,207 (GRCm39)	N396Y	probably damaging	Het
Pcm1	T	A	8: 41,766,437 (GRCm39)	C1542S	probably benign	Het
Pcsk1	T	A	13: 75,274,121 (GRCm39)	V450E	probably damaging	Het
Pld2	A	G	11: 70,445,121 (GRCm39)	K574E	probably damaging	Het
Pramel52-ps	T	C	5: 94,531,551 (GRCm39)	L145P	probably damaging	Het
Psmc1	C	T	12: 100,089,356 (GRCm39)	R410C	probably benign	Het
Rad51b	C	T	12: 79,374,024 (GRCm39)	S201L	probably benign	Het
Rgs3	T	A	4: 62,544,733 (GRCm39)	L200Q	probably damaging	Het
Scin	C	T	12: 40,131,019 (GRCm39)	G298D	probably damaging	Het
Scn8a	C	A	15: 100,867,014 (GRCm39)	F123L	probably damaging	Het
Snapc3	G	A	4: 83,369,531 (GRCm39)	C353Y	probably damaging	Het
Sned1	C	A	1: 93,210,978 (GRCm39)	S231*	probably null	Het
Tex15	A	G	8: 34,067,574 (GRCm39)	T2335A	probably benign	Het
Tigd4	G	A	3: 84,502,526 (GRCm39)	G481D	probably benign	Het
Trank1	T	G	9: 111,219,343 (GRCm39)	F2027V	probably benign	Het
Ubr1	C	T	2: 120,711,548 (GRCm39)	A1449T	probably benign	Het
Ulk1	G	T	5: 110,947,002 (GRCm39)	Y89*	probably null	Het
Usp54	A	G	14: 20,611,604 (GRCm39)	F1071L	probably benign	Het
Utrn	C	T	10: 12,587,190 (GRCm39)	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,589,964 (GRCm39)	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,739,368 (GRCm39)	L17P	probably damaging	Het
Zfp672	G	A	11: 58,220,681 (GRCm39)		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
R8082:Rims2	UTSW	15	39,339,919 (GRCm39)	missense	probably benign	0.34
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'- ACCGGCTGACAGTGTCTTTAC -3'
(R):5'- AGCAGGCTGTTTGATCACTG -3'

Sequencing Primer
(F):5'- GACAGTGTCTTTACATCCAAAATGC -3'
(R):5'- GGGATGAACTAGTCTAAAACTGTTCC -3'

Posted On

2021-01-18