Mutagenetix > Incidental Mutation

Incidental Mutation 'R3857:Erc2'

276227

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

040785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3857 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 28475642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147744 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

unknown
Transcript: ENSMUST00000090302
AA Change: S959G

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: S959G

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

noncoding transcript
Transcript: ENSMUST00000224045

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 96.7%
20x: 92.4%

Validation Efficiency

98% (41/42)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AU022751	A	G	X: 6,082,656	S102P	possibly damaging	Het
Bdkrb2	T	C	12: 105,592,439	V313A	probably benign	Het
Ccng1	A	G	11: 40,753,833	L79P	probably damaging	Het
Celf1	A	G	2: 91,012,741	E411G	probably damaging	Het
Cps1	A	G	1: 67,168,278	Y582C	probably damaging	Het
Dnah8	A	G	17: 30,663,422	D656G	probably damaging	Het
Ercc8	A	G	13: 108,194,114	E395G	possibly damaging	Het
F13a1	A	G	13: 37,025,694	L99P	probably benign	Het
Fzd3	A	T	14: 65,239,839	C89S	possibly damaging	Het
Gm2075	T	A	12: 88,012,246	D133E	unknown	Het
Gse1	T	A	8: 120,571,133		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hs3st1	G	A	5: 39,614,913	T129I	probably damaging	Het
Irx1	A	T	13: 71,963,458	Y11N	possibly damaging	Het
Kdm3b	T	A	18: 34,833,387	I1658N	probably benign	Het
Mtmr4	G	A	11: 87,597,262	V24M	probably damaging	Het
Nfatc1	T	C	18: 80,665,275		probably benign	Het
Obscn	A	G	11: 59,080,969		probably benign	Het
Pcna	A	T	2: 132,249,621	S261T	probably benign	Het
Pigr	T	C	1: 130,847,261	V475A	probably benign	Het
Pitpnc1	T	C	11: 107,320,805		probably null	Het
Psph	A	G	5: 129,771,476	M47T	probably damaging	Het
Pth2r	A	T	1: 65,322,047	I52F	probably damaging	Het
Rtn4rl2	A	G	2: 84,880,386		probably null	Het
Senp6	A	G	9: 80,092,321	T7A	possibly damaging	Het
Slc4a1	A	T	11: 102,357,121	V349E	probably benign	Het
Spice1	T	C	16: 44,355,443	S2P	probably damaging	Het
Spty2d1	G	A	7: 46,998,296	T295I	probably benign	Het
Thsd7a	C	T	6: 12,555,226	G220S	probably benign	Het
Togaram1	A	G	12: 64,980,859	Q874R	possibly damaging	Het
Ttn	T	A	2: 76,908,975	D3740V	probably benign	Het
Unc13c	G	T	9: 73,699,108	Y1323*	probably null	Het
Vmn1r19	A	T	6: 57,405,113	Y217F	possibly damaging	Het
Zfp101	G	T	17: 33,382,431	S79*	probably null	Het
Zfp512	G	T	5: 31,472,840	R222L	probably damaging	Het
Zfyve16	A	T	13: 92,494,971	I1372N	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
IGL01862:Erc2	APN	14	28271569	splice site	probably benign
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
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
R8031:Erc2	UTSW	14	28011692	missense	probably damaging	0.99
R8206:Erc2	UTSW	14	28303015	splice site	probably null
R8273:Erc2	UTSW	14	27777139	missense	probably benign	0.41
R8304:Erc2	UTSW	14	27653165	missense	probably damaging	0.99
R8387:Erc2	UTSW	14	27653296	missense	possibly damaging	0.92
R8751:Erc2	UTSW	14	28080188	missense	possibly damaging	0.78
R8851:Erc2	UTSW	14	28317259	missense	probably null	0.99
R9130:Erc2	UTSW	14	28029461	missense	probably benign	0.25
R9292:Erc2	UTSW	14	27776842	missense	probably damaging	1.00
R9441:Erc2	UTSW	14	28080157	missense	possibly damaging	0.58
R9452:Erc2	UTSW	14	28011733	missense	probably damaging	1.00
R9529:Erc2	UTSW	14	28475766	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTGGAAAACGTGACCCCAAC -3'
(R):5'- GATGCTCACTTCGTAAAGGTCC -3'

Sequencing Primer
(F):5'- GTGACCCCAACCAATGAGAGTG -3'
(R):5'- CACTTCGTAAAGGTCCAAATCCTTG -3'

Posted On

2015-04-06