Mutagenetix > Incidental Mutation

Incidental Mutation 'R1555:Erc2'

170237

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

039594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28011665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 557 (D557E)

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: D557E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: D557E

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

possibly damaging
Transcript: ENSMUST00000210135
AA Change: D565E

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: D223E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: D557E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

96% (43/45)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,974,901		probably null	Het
Adamts1	T	A	16: 85,797,888	T358S	probably benign	Het
Ate1	A	T	7: 130,509,091	F169I	probably benign	Het
Cdkl4	T	A	17: 80,543,614		probably benign	Het
Clcnkb	T	C	4: 141,411,739		probably null	Het
Col6a4	C	T	9: 106,000,886	R1964Q	possibly damaging	Het
Dcakd	C	T	11: 103,000,213	V17I	probably damaging	Het
Dcdc5	T	G	2: 106,384,135		noncoding transcript	Het
Grid2	A	T	6: 64,429,684	D676V	possibly damaging	Het
Hebp2	G	T	10: 18,544,415	T90K	possibly damaging	Het
Igkv10-96	C	T	6: 68,632,381		probably benign	Het
Mier3	T	A	13: 111,708,359	N248K	probably damaging	Het
Myo5b	A	T	18: 74,569,782	I15F	probably damaging	Het
Neurl3	A	G	1: 36,266,532	V198A	probably benign	Het
Notch2	C	A	3: 98,131,340	N1266K	possibly damaging	Het
Nup107	A	G	10: 117,751,490		probably benign	Het
Olfr214	A	T	6: 116,556,826	I134F	probably damaging	Het
Olfr675	T	C	7: 105,024,522	I153V	probably benign	Het
Phf3	G	T	1: 30,805,877	H1334N	possibly damaging	Het
Phyhd1	T	A	2: 30,274,706	I100N	probably damaging	Het
Rad21l	T	A	2: 151,658,428	T224S	probably benign	Het
Rxra	C	T	2: 27,748,678	A231V	probably benign	Het
Sac3d1	T	C	19: 6,118,405	D61G	probably damaging	Het
Sbf1	A	G	15: 89,305,076	Y481H	probably damaging	Het
Spg11	T	C	2: 122,097,377	E642G	probably damaging	Het
Spta1	A	G	1: 174,178,749	Y159C	probably damaging	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tedc1	G	T	12: 113,156,497		probably benign	Het
Tmem200a	A	T	10: 25,993,884	D162E	probably damaging	Het
Tmprss11e	T	A	5: 86,715,588	Q206L	probably damaging	Het
Tpra1	A	G	6: 88,910,203	N175S	probably damaging	Het
Ttll10	T	C	4: 156,035,139	E601G	probably benign	Het
Ttll6	G	T	11: 96,145,582	D346Y	probably damaging	Het
U2surp	A	G	9: 95,466,577	V874A	probably damaging	Het
Vwa5b1	T	C	4: 138,605,477	K258R	probably benign	Het
Xkr6	A	G	14: 63,818,925	Y95C	unknown	Het
Zfp180	T	C	7: 24,101,574		probably benign	Het
Zfp90	A	G	8: 106,424,095	T147A	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
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
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'- TGTACTCAGTGTCTGCCCAGTGAAG -3'
(R):5'- TCCCCTGGCTAACATGGAAGTCTG -3'

Sequencing Primer
(F):5'- GCCCAGTGAAGGATTTAATCCTG -3'
(R):5'- CTGGGACTAGGGGCAGTG -3'

Posted On

2014-04-13