Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Erc2'

462613

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 28302869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000210135

Predicted Effect

probably null
Transcript: ENSMUST00000210924

Predicted Effect

probably null
Transcript: ENSMUST00000211145

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 107,028,489	F220C	probably damaging	Het
4932443I19Rik	A	T	8: 13,734,835	Q32L	possibly damaging	Het
Acox3	C	T	5: 35,608,324	H140Y	probably benign	Het
Ano3	A	T	2: 110,658,273	I938K	probably benign	Het
Ap3m1	A	C	14: 21,045,720	I14S	possibly damaging	Het
Arg1	T	C	10: 24,917,999	T127A	probably benign	Het
Asah2	A	G	19: 32,008,615	Y552H	probably damaging	Het
Chst12	A	G	5: 140,523,933	N105S	probably benign	Het
Cped1	G	A	6: 22,123,621	V458I	probably benign	Het
Cyld	T	G	8: 88,744,846	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,444,643	V489I	probably benign	Het
Dlgap4	T	C	2: 156,711,048	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,367	A617D	probably benign	Het
Fancm	A	G	12: 65,101,615	N668S	probably benign	Het
Gm5592	A	G	7: 41,289,201	I636V	probably benign	Het
Gtf2h2	A	T	13: 100,480,558	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,495	H122Q	probably damaging	Het
Ints10	G	A	8: 68,804,922	R258K	probably damaging	Het
Kir3dl1	G	A	X: 136,526,482	D56N	probably damaging	Het
Lrguk	T	A	6: 34,048,867	D199E	probably damaging	Het
Lyst	A	G	13: 13,634,030	D95G	probably benign	Het
Map2k1	A	T	9: 64,214,601	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,560,890		probably null	Het
Nfatc3	T	A	8: 106,079,066	I181N	probably damaging	Het
Nipbl	T	C	15: 8,324,649	K1668R	possibly damaging	Het
Olfr1467	A	G	19: 13,365,483	N285S	probably damaging	Het
Olfr862	A	G	9: 19,883,561	V248A	possibly damaging	Het
Olfr924	T	A	9: 38,848,603	L163*	probably null	Het
Otud7b	C	T	3: 96,144,304	T189I	probably damaging	Het
Pkia	A	T	3: 7,442,045	E62D	probably benign	Het
Plcb3	G	A	19: 6,954,422	Q1154*	probably null	Het
Pole4	T	C	6: 82,651,466	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,883	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,679,289	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,756,029	D564G	probably damaging	Het
Samhd1	C	T	2: 157,112,831	R387H	probably benign	Het
Spag1	A	G	15: 36,183,703	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,728,686	V345D	possibly damaging	Het
Spin1	G	A	13: 51,149,135	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,692,051	V197A	probably benign	Het
Tmigd1	T	C	11: 76,907,090	V86A	possibly damaging	Het
Ttn	T	C	2: 76,712,073	D31777G	probably damaging	Het
Tymp	T	A	15: 89,376,436	M60L	probably benign	Het
Ugdh	T	C	5: 65,427,523	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,229,469	C215F	probably benign	Het
Wnt5b	T	C	6: 119,433,729	D250G	probably damaging	Het
Xrn1	T	A	9: 96,045,551	C1463S	probably benign	Het
Zfp831	T	A	2: 174,645,152	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,840,017	D189G	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
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
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'- GCACATTGCCATGTACAGGTG -3'
(R):5'- GGTCCTAGAGGTAAGCTGCAATG -3'

Sequencing Primer
(F):5'- CTACGTAGCTAGTTCCAAGAGTG -3'
(R):5'- CTGCAATGAAACTGACCTGGTCTG -3'

Posted On

2017-03-01