Mutagenetix > Incidental Mutations

Incidental Mutation 'R7663:Rims2'

591739

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

2810036I15Rik, Syt3-rs, RIM2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39198261-39684372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39507026 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 952 (V952E)

Ref Sequence

ENSEMBL: ENSMUSP00000048719 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042917
AA Change: V952E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: V952E

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: V992E

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

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: V992E

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: V952E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,126	T359A	probably damaging	Het
Abcd4	A	C	12: 84,606,129	V433G	probably damaging	Het
Acot5	C	A	12: 84,069,581	R39S	probably damaging	Het
Actl9	T	C	17: 33,433,469	S168P	probably damaging	Het
Adam15	A	G	3: 89,345,806	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,790,314	Q289R	possibly damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Asah1	C	T	8: 41,341,627	R385Q	probably damaging	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Bicc1	T	C	10: 70,946,590	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,498,614		probably null	Het
Cdhr4	A	T	9: 107,998,772	R750*	probably null	Het
Cep290	T	A	10: 100,554,536		probably null	Het
Clca3a1	T	A	3: 144,737,036	D749V	probably benign	Het
Clcn1	C	T	6: 42,310,063	P685S	possibly damaging	Het
Clk1	A	G	1: 58,421,160	S104P	probably damaging	Het
Commd10	T	C	18: 47,086,256	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,877,509	C213*	probably null	Het
Dnah14	A	T	1: 181,752,155		probably null	Het
Dock2	C	T	11: 34,721,027	G170R	probably damaging	Het
Fam186a	T	G	15: 99,945,069	H1098P	probably benign	Het
Flt1	T	C	5: 147,655,120	T511A	probably benign	Het
Fmo1	A	C	1: 162,836,297	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,775,362	S93R	possibly damaging	Het
Gm10251	A	C	14: 6,675,701		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gys2	C	T	6: 142,459,485	R192H	probably damaging	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Hectd4	C	A	5: 121,324,031	A987E	probably benign	Het
Herc2	G	A	7: 56,136,685	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,059,934	T88A	probably benign	Het
Jag2	T	C	12: 112,913,666	D695G	probably damaging	Het
Kazn	A	T	4: 142,104,898	D663E		Het
Krt79	T	C	15: 101,931,843	D306G	probably damaging	Het
Lama1	T	A	17: 67,780,880	C1498S		Het
Ldb1	T	C	19: 46,035,524	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,904,739	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,653,035		probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,191,609	Y2377F	probably damaging	Het
Neb	T	A	2: 52,230,047	Y721F		Het
Ntf3	A	G	6: 126,101,815	S243P	probably damaging	Het
Olfr1195	G	C	2: 88,683,352	P127A	probably damaging	Het
Olfr1480	G	T	19: 13,530,445	M301I	probably damaging	Het
Olfr593	T	C	7: 103,212,445	M195T	possibly damaging	Het
Pdk1	G	A	2: 71,875,398		probably null	Het
Pdzd2	A	G	15: 12,373,203	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,747,433	F517L	probably benign	Het
Plch2	T	A	4: 154,991,162	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,883,208	R603W	probably damaging	Het
Pltp	A	T	2: 164,857,006		probably null	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Psmb3	G	T	11: 97,712,492	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,418,415	V764A	probably benign	Het
Rel	T	C	11: 23,742,713	D440G	probably benign	Het
Samd4b	G	T	7: 28,423,500	C44*	probably null	Het
Slamf8	C	A	1: 172,588,038	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493	N111K	possibly damaging	Het
Slc7a5	A	T	8: 121,887,535	Y264*	probably null	Het
Srsf2	T	C	11: 116,852,294	S134G	unknown	Het
Stag1	T	A	9: 100,738,138	M98K	probably damaging	Het
Trib1	T	C	15: 59,651,713	S199P	probably damaging	Het
Txnip	T	C	3: 96,559,837	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,244,741	T176I	not run	Het
Vmn1r222	A	G	13: 23,232,431	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,927,042	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,472,185	H728L	probably damaging	Het
Zfp69	G	A	4: 120,935,126	A151V	probably benign	Het
Zfp738	A	G	13: 67,683,401		probably null	Het
Zfp974	T	C	7: 27,911,685	E205G	possibly 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
IGL02951:Rims2	APN	15	39534938	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
rhyme	UTSW	15	39452328	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	splice site	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
R7792:Rims2	UTSW	15	39198528	missense	possibly damaging	0.69
R7836:Rims2	UTSW	15	39681079	missense	probably damaging	1.00
R8082:Rims2	UTSW	15	39476523	missense	probably benign	0.34
X0034:Rims2	UTSW	15	39437534	missense	probably benign
Z1177:Rims2	UTSW	15	39437769	missense	probably benign	0.24
Z1177:Rims2	UTSW	15	39478690	frame shift	probably null
Z1177:Rims2	UTSW	15	39681114	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCATGGAATTCTCCTATCCAAC -3'
(R):5'- GAAGATTAAATCAATAACCTCCACGA -3'

Sequencing Primer
(F):5'- ATGGAATTCTCCTATCCAACTCTTC -3'
(R):5'- GAAGGCCTAAGTTTCTAGGTACTGAC -3'

Posted On

2019-11-12