Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01862:Erc2'

178400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 28271569 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210924] [ENSMUST00000211145]

Predicted Effect

probably benign
Transcript: ENSMUST00000090302

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

Domain	Start	End	E-Value	Type
low complexity region	14	45	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
Pfam:Cast	150	907	N/A	PFAM
low complexity region	916	928	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209800

Predicted Effect

probably benign
Transcript: ENSMUST00000210135

Predicted Effect

probably benign
Transcript: ENSMUST00000210924

Predicted Effect

probably benign
Transcript: ENSMUST00000211145

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	G	A	1: 134,390,611	V374I	probably benign	Het
Abca8b	G	T	11: 109,947,171	S1085*	probably null	Het
Akap9	T	G	5: 3,951,705	S94A	probably damaging	Het
Akap9	T	A	5: 4,065,856	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,440,119	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Cacna1h	C	T	17: 25,383,483	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,794,370	Y32C	probably damaging	Het
Ccdc130	G	T	8: 84,260,534		probably benign	Het
Cep120	A	C	18: 53,714,767	S673R	probably benign	Het
Cep162	T	C	9: 87,253,933	E19G	possibly damaging	Het
Cpxm2	C	T	7: 132,059,811	V416I	probably benign	Het
Dapk1	A	G	13: 60,726,610	T427A	probably benign	Het
Ecm1	A	T	3: 95,734,273	D549E	probably benign	Het
Efemp1	T	A	11: 28,921,428	N342K	probably damaging	Het
Fam160b2	C	T	14: 70,587,690	R402H	probably benign	Het
Galnt13	T	C	2: 54,857,914	V269A	probably damaging	Het
Gm6465	T	G	5: 11,849,053	L171R	probably damaging	Het
Gpatch1	A	G	7: 35,295,278	V521A	probably benign	Het
Heatr5b	A	T	17: 78,796,485	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,538,898	V484D	probably damaging	Het
Ints4	T	A	7: 97,541,153	V953E	probably damaging	Het
Iqce	T	C	5: 140,699,725	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,570,541	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,637,009	I254F	probably damaging	Het
Ly75	A	T	2: 60,299,172	V1623D	probably damaging	Het
Mapt	T	A	11: 104,290,002		probably benign	Het
Mast1	A	T	8: 84,913,246		probably null	Het
Mcc	G	T	18: 44,759,296	Q84K	probably benign	Het
Mtfr2	G	A	10: 20,348,403	V28M	probably benign	Het
Myh8	T	A	11: 67,289,694	Y585*	probably null	Het
Napsa	T	C	7: 44,582,493	V202A	probably damaging	Het
Nsd2	A	G	5: 33,843,736	K199R	probably null	Het
Ntpcr	C	T	8: 125,736,098	A18V	probably benign	Het
Olfr1009	G	T	2: 85,722,128	C241F	probably damaging	Het
Olfr117	G	T	17: 37,659,477	N285K	probably damaging	Het
Olfr169	A	T	16: 19,566,676	M69K	probably damaging	Het
Olfr689	T	A	7: 105,314,232	I76N	probably damaging	Het
Olfr877	A	G	9: 37,855,181	D121G	probably damaging	Het
Os9	A	G	10: 127,099,704	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,343,862	S684P	possibly damaging	Het
Phf19	A	C	2: 34,897,055		probably null	Het
Pkd1l3	G	A	8: 109,631,276		probably null	Het
Pkhd1	A	G	1: 20,358,910	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,643,950	V64E	possibly damaging	Het
Psme4	T	A	11: 30,812,038	C459*	probably null	Het
Ptk6	T	C	2: 181,199,640	S159G	probably benign	Het
Rhd	T	C	4: 134,890,339	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,445,711	Y601C	probably damaging	Het
Shroom3	T	C	5: 92,962,289	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,442,201		probably null	Het
Spg7	T	A	8: 123,076,930	L233Q	probably damaging	Het
Strip1	C	A	3: 107,621,882	R353L	probably damaging	Het
Ubr1	T	C	2: 120,934,342	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,477,158	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,408,898		probably benign	Het
Vmn1r193	A	T	13: 22,219,814	C3S	probably benign	Het
Zdhhc5	C	T	2: 84,690,492	R447H	probably benign	Het
Zfp202	A	G	9: 40,211,828	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441	C990S	probably damaging	Het

Other mutations in Erc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Erc2	APN	14	28040521	missense	probably damaging	0.98
IGL01906:Erc2	APN	14	28141306	missense	probably damaging	0.99
IGL02177:Erc2	APN	14	27898623	missense	probably benign	0.00
IGL02481:Erc2	APN	14	27653071	missense	probably damaging	1.00
IGL02483:Erc2	APN	14	27653071	missense	probably damaging	1.00
IGL02623:Erc2	APN	14	27776980	missense	probably damaging	1.00
IGL03252:Erc2	APN	14	28475649	utr 3 prime	probably benign
IGL03378:Erc2	APN	14	28011723	missense	probably damaging	1.00
lobe	UTSW	14	28317251	missense	probably damaging	0.96
R0091:Erc2	UTSW	14	27776824	critical splice acceptor site	probably null
R0309:Erc2	UTSW	14	28141225	missense	probably damaging	0.98
R0357:Erc2	UTSW	14	27777022	missense	probably damaging	0.99
R0378:Erc2	UTSW	14	28011694	missense	probably damaging	1.00
R0550:Erc2	UTSW	14	28271651	missense	possibly damaging	0.74
R0815:Erc2	UTSW	14	28025148	missense	probably benign	0.04
R0863:Erc2	UTSW	14	28025148	missense	probably benign	0.04
R1121:Erc2	UTSW	14	28475655	utr 3 prime	probably benign
R1164:Erc2	UTSW	14	28302972	missense	probably damaging	0.99
R1498:Erc2	UTSW	14	28302898	missense	probably benign	0.27
R1500:Erc2	UTSW	14	28271660	missense	probably damaging	0.98
R1555:Erc2	UTSW	14	28011665	missense	probably damaging	0.99
R1894:Erc2	UTSW	14	28141228	missense	probably damaging	0.99
R1950:Erc2	UTSW	14	27912900	missense	probably damaging	0.99
R1991:Erc2	UTSW	14	28011636	missense	probably benign	0.34
R2698:Erc2	UTSW	14	28271705	missense	probably benign	0.06
R2847:Erc2	UTSW	14	28040488	missense	probably damaging	0.97
R3015:Erc2	UTSW	14	28011775	critical splice donor site	probably null
R3612:Erc2	UTSW	14	27777177	missense	possibly damaging	0.69
R3759:Erc2	UTSW	14	28025163	missense	possibly damaging	0.94
R3857:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R3858:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R3859:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R4556:Erc2	UTSW	14	28302904	missense	probably damaging	1.00
R4739:Erc2	UTSW	14	27776881	missense	probably damaging	1.00
R4898:Erc2	UTSW	14	27653328	missense	probably damaging	1.00
R5068:Erc2	UTSW	14	28302943	missense	possibly damaging	0.63
R5113:Erc2	UTSW	14	27652872	missense	probably benign	0.40
R5418:Erc2	UTSW	14	27966510	missense	probably benign	0.14
R5741:Erc2	UTSW	14	28302869	splice site	probably null
R5819:Erc2	UTSW	14	28141369	missense	probably damaging	0.97
R5930:Erc2	UTSW	14	27776858	missense	probably damaging	0.99
R6073:Erc2	UTSW	14	28011636	missense	probably benign	0.00
R6150:Erc2	UTSW	14	28141291	missense	probably damaging	0.97
R6182:Erc2	UTSW	14	28317253	missense	probably damaging	0.99
R6188:Erc2	UTSW	14	28317251	missense	probably damaging	0.96
R6267:Erc2	UTSW	14	28080155	missense	probably damaging	1.00
R6296:Erc2	UTSW	14	28080155	missense	probably damaging	1.00
R6730:Erc2	UTSW	14	27898567	missense	possibly damaging	0.95
R6969:Erc2	UTSW	14	27898596	missense	probably damaging	1.00
R7095:Erc2	UTSW	14	27898593	missense	probably damaging	0.99
R7221:Erc2	UTSW	14	27653158	missense	probably damaging	0.97
R7365:Erc2	UTSW	14	28040389	missense	probably damaging	1.00
R7454:Erc2	UTSW	14	28302991	missense	possibly damaging	0.92
R7763:Erc2	UTSW	14	27876204	critical splice donor site	probably null
R7784:Erc2	UTSW	14	27898594	missense	probably damaging	0.96
R7890:Erc2	UTSW	14	28040341	critical splice acceptor site	probably null
R7894:Erc2	UTSW	14	27777208	missense	probably damaging	1.00
R7973:Erc2	UTSW	14	28040341	critical splice acceptor site	probably null
R7977:Erc2	UTSW	14	27777208	missense	probably damaging	1.00
R8031:Erc2	UTSW	14	28011692	missense	probably damaging	0.99

Posted On

2014-05-07