Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Rims2'

334457

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

041591-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R4526 (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 39301113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 281 (K281N)

Ref Sequence

ENSEMBL: ENSMUSP00000154645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243] [ENSMUST00000228839]

AlphaFold

Q9EQZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042917
AA Change: K473N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: K473N

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: K513N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: K513N

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

noncoding transcript
Transcript: ENSMUST00000226243

Predicted Effect

probably damaging
Transcript: ENSMUST00000227243
AA Change: K473N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000227381
AA Change: K240N

Predicted Effect

probably damaging
Transcript: ENSMUST00000228839
AA Change: K281N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228867

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,535 (GRCm39)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,705,875 (GRCm39)	T2007I	probably benign	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Otogl	G	A	10: 107,722,841 (GRCm39)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,723,284 (GRCm39)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	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
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
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'- TGAACGTAGAGCTGCAATGG -3'
(R):5'- GCTCCACATCATCACAGCTTG -3'

Sequencing Primer
(F):5'- CGATCGTATTCAATGGAAAGAACTCG -3'
(R):5'- CATCACAGCTTGTATACTCAGGTGTG -3'

Posted On

2015-08-18