Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Erc2'

25109

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28141225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 803 (E803A)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: E799A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: E799A

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 damaging
Transcript: ENSMUST00000210135
AA Change: E823A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: E469A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: E803A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.1374

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,376,259	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,939,835	D796A	probably damaging	Het
Actg2	A	T	6: 83,519,914	V147E	probably damaging	Het
Adamts13	A	C	2: 26,986,989	T534P	probably damaging	Het
Ago1	T	C	4: 126,443,166	T249A	probably benign	Het
Ahnak	T	A	19: 9,002,495	I381N	probably damaging	Het
Akap9	A	G	5: 4,069,038	D3515G	probably benign	Het
Angptl3	T	C	4: 99,034,469	V249A	probably benign	Het
Ank	A	G	15: 27,567,572	T294A	possibly damaging	Het
Ank1	A	T	8: 23,104,809	H204L	probably damaging	Het
Apbb2	A	G	5: 66,310,988		probably benign	Het
Arhgap28	A	T	17: 67,901,429	S15T	probably benign	Het
Aspm	T	C	1: 139,482,511		probably benign	Het
Atp1a4	T	C	1: 172,234,987	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,836,860	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,959,683	F575L	probably damaging	Het
Calr	C	A	8: 84,843,031	K322N	probably benign	Het
Ccdc188	T	C	16: 18,219,305	S247P	possibly damaging	Het
Cdr1	T	A	X: 61,185,302	D86V	unknown	Het
Cep97	C	T	16: 55,925,058	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,884,511	C6S	probably damaging	Het
Chd3	C	T	11: 69,357,018	D920N	probably damaging	Het
Clk1	T	C	1: 58,413,033		probably benign	Het
Cntnap3	T	A	13: 64,757,436		probably benign	Het
Col12a1	T	A	9: 79,600,011		probably null	Het
Col17a1	G	T	19: 47,671,362		probably benign	Het
Coq7	T	A	7: 118,529,717	I32F	possibly damaging	Het
Cox6a2	A	T	7: 128,205,935	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,151	D436G	probably damaging	Het
Ctso	G	A	3: 81,944,861		probably null	Het
Cxadr	A	T	16: 78,334,948	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,778,051	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,160,671	M344L	possibly damaging	Het
Defa35	G	A	8: 21,065,855	V77I	probably benign	Het
Dhx57	A	G	17: 80,274,881	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah7a	C	G	1: 53,405,690	D3952H	probably damaging	Het
Dnah9	C	A	11: 66,026,972		probably benign	Het
Dstyk	C	A	1: 132,456,864		probably benign	Het
Efcab2	T	A	1: 178,475,904		probably benign	Het
Ehbp1l1	T	C	19: 5,720,570	E287G	possibly damaging	Het
Epgn	A	G	5: 91,032,214	T87A	probably benign	Het
Fam26d	A	G	10: 34,044,047	W75R	probably damaging	Het
Fer	A	G	17: 64,139,016	*454W	probably null	Het
Glyr1	T	C	16: 5,031,972	D179G	probably damaging	Het
Gm12830	T	A	4: 114,844,976		probably benign	Het
Gm14085	A	T	2: 122,517,553	T253S	probably benign	Het
Gm9922	C	A	14: 101,729,693		probably benign	Het
Gsta3	C	T	1: 21,264,894	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,155,128		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il16	T	C	7: 83,722,554	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,794,075		probably benign	Het
Kdm4c	T	C	4: 74,345,567	V696A	probably benign	Het
Kdr	A	G	5: 75,946,927		probably benign	Het
Klhl33	T	G	14: 50,891,411	H787P	probably damaging	Het
Klk14	A	T	7: 43,694,345	T159S	probably benign	Het
Lancl2	A	G	6: 57,703,132	N16D	probably damaging	Het
Lemd3	T	C	10: 120,937,110	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,271,015		probably null	Het
Mpl	T	G	4: 118,446,038		probably benign	Het
Myh7b	T	C	2: 155,630,672		probably benign	Het
Mylk	A	C	16: 34,912,297		probably benign	Het
Myof	A	T	19: 37,981,266	M316K	probably benign	Het
Nfib	T	A	4: 82,296,737	N543I	probably damaging	Het
Nfix	A	G	8: 84,721,774	S375P	probably damaging	Het
Nkrf	T	C	X: 36,890,116	Q171R	probably damaging	Het
Nmnat2	T	A	1: 153,077,001		probably benign	Het
Npffr2	G	A	5: 89,583,347	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904		probably benign	Het
Nup98	A	C	7: 102,152,428	D212E	probably null	Het
Nwd2	T	C	5: 63,807,218	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,395,992	R451G	possibly damaging	Het
Olfr593	T	A	7: 103,212,721	I287K	probably damaging	Het
Olfr804	A	G	10: 129,705,139	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,493	A551T	possibly damaging	Het
Papd7	A	T	13: 69,499,932	V781E	possibly damaging	Het
Pard3	A	T	8: 127,376,897		probably benign	Het
Pcdhb12	G	T	18: 37,436,121	V107L	probably benign	Het
Pik3cd	A	T	4: 149,663,220	V22D	probably damaging	Het
Pkd1l2	A	G	8: 116,997,576	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,987,195	I167T	probably damaging	Het
Pphln1	A	T	15: 93,441,707	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,920,782	N444S	probably damaging	Het
Prdm9	G	A	17: 15,557,384	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,150,915		probably benign	Het
Prrx1	T	C	1: 163,312,559	D26G	possibly damaging	Het
Ptpn5	T	C	7: 47,079,294	E495G	probably damaging	Het
Rab23	A	C	1: 33,734,861		probably null	Het
Ralgps1	C	T	2: 33,157,923	M348I	probably benign	Het
Ranbp2	A	G	10: 58,479,868	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,226,030	G654V	probably benign	Het
Rc3h2	A	T	2: 37,379,008		probably benign	Het
Reg2	G	A	6: 78,406,186	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,725,311	V7F	probably benign	Het
Sgip1	T	C	4: 102,915,157		probably benign	Het
Sgpl1	C	T	10: 61,113,437		probably null	Het
Shisa9	G	A	16: 11,997,123	V212M	probably damaging	Het
Shq1	G	A	6: 100,573,627	P450L	probably benign	Het
Sin3a	A	G	9: 57,110,912	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,348,350	R1371Q	probably benign	Het
Skint8	T	C	4: 111,938,867	V246A	probably benign	Het
Slc22a20	A	T	19: 5,972,957	V386D	probably damaging	Het
Slc2a7	G	A	4: 150,158,071		probably benign	Het
Slc35a2	T	A	X: 7,889,662	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,434,346	S413I	probably damaging	Het
Sntg2	T	C	12: 30,226,773	T427A	probably benign	Het
Soat1	T	C	1: 156,442,453	Y132C	probably damaging	Het
Stn1	G	T	19: 47,501,673	H342N	probably benign	Het
Tarbp1	T	A	8: 126,438,928		probably benign	Het
Tas2r113	A	C	6: 132,893,378	K123T	probably damaging	Het
Tbck	C	T	3: 132,734,407	Q504*	probably null	Het
Tenm3	C	T	8: 48,341,034	C380Y	probably damaging	Het
Triobp	A	G	15: 78,976,540	D1389G	probably damaging	Het
Trpm4	A	T	7: 45,308,706	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,081,182	Y281*	probably null	Het
Txndc15	T	C	13: 55,724,582	F261S	probably damaging	Het
Ube3b	T	C	5: 114,419,469		probably benign	Het
Unc5c	G	C	3: 141,733,933	V196L	probably benign	Het
Upf3a	G	A	8: 13,795,500		probably null	Het
Vmn2r20	T	C	6: 123,386,104	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,307,576		probably benign	Het
Zbtb18	T	C	1: 177,448,616	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,438,984	I567T	probably damaging	Het
Zfp598	T	C	17: 24,678,584		probably benign	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
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
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'- ACAAAAGTGTACAGTGCCAGCCAG -3'
(R):5'- TCCTACCATCAAAGTGGGGTGACAG -3'

Sequencing Primer
(F):5'- TTGATACTGGGTCAAGCACC -3'
(R):5'- TGGGGTGACAGAGGACC -3'

Posted On

2013-04-16