Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Erc2'

714353

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28011733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 580 (D580G)

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: D580G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: D580G

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

probably damaging
Transcript: ENSMUST00000210135
AA Change: D588G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: D246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: D580G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,407,384	Y564C	probably null	Het
Ablim2	A	T	5: 35,857,854	D470V	probably benign	Het
Actr10	T	C	12: 70,960,044		probably null	Het
Adam4	T	A	12: 81,420,297	I517L	probably benign	Het
Ank1	C	A	8: 23,132,413	D1659E	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Avl9	T	C	6: 56,729,741	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733	I157N	probably benign	Het
BC005561	T	A	5: 104,521,744	N1377K	probably benign	Het
Bicc1	A	T	10: 70,957,151	D224E	probably damaging	Het
C2	T	G	17: 34,876,343	I209L	probably benign	Het
Cacna1e	A	T	1: 154,413,974		probably null	Het
Capn1	T	C	19: 6,007,257	Y387C	probably damaging	Het
Cebpa	A	G	7: 35,119,608	I64V	possibly damaging	Het
Celf4	T	G	18: 25,491,162	M436L	probably benign	Het
Cfb	C	A	17: 34,859,108	V436L	probably benign	Het
Ciart	C	T	3: 95,881,215	C104Y	probably benign	Het
Cmya5	A	G	13: 93,095,886	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,699,389	M388K	possibly damaging	Het
Cypt12	T	C	3: 17,948,679	V72A	probably benign	Het
Dlec1	A	G	9: 119,112,473	D309G	probably benign	Het
Dnah1	A	G	14: 31,296,491	V1394A	probably benign	Het
Dpp3	A	C	19: 4,923,722	S108A	probably benign	Het
Eif5b	C	T	1: 38,045,780	P903S	probably damaging	Het
Fam98c	A	G	7: 29,153,476	V44A	probably benign	Het
Fer	A	G	17: 63,924,072	K273E	probably benign	Het
Gm906	T	C	13: 50,246,772	H506R	possibly damaging	Het
Gm9268	A	T	7: 43,047,833	L771F	possibly damaging	Het
Gzme	T	A	14: 56,118,397	I153F	probably benign	Het
Ice1	A	T	13: 70,596,343	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,529,328	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 127,141,414	E263*	probably null	Het
Kat8	A	G	7: 127,925,249	K433R	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,935,284	T59S	probably benign	Het
Lig3	C	T	11: 82,790,622	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,459,732	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,960,714	C90*	probably null	Het
Micall2	T	G	5: 139,717,556		probably null	Het
Mtmr3	G	T	11: 4,491,037	L539I	probably damaging	Het
Obscn	C	A	11: 59,034,136		probably null	Het
Olfml3	T	C	3: 103,736,259	T269A	probably benign	Het
Olfr1217	C	T	2: 89,023,890	G38R		Het
Oprl1	C	T	2: 181,718,661	A170V	possibly damaging	Het
Pdgfrb	G	A	18: 61,065,726	V319M	possibly damaging	Het
Pirb	G	A	7: 3,717,618	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Pkd2	T	C	5: 104,466,975	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,612,729	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,695,833	D111G	probably damaging	Het
Plpp2	A	G	10: 79,527,868	S162P	probably damaging	Het
Prex2	T	A	1: 11,185,927	I1174K	probably benign	Het
Prkdc	T	A	16: 15,667,601	Y431N	possibly damaging	Het
Pter	A	G	2: 12,980,300	D147G	probably benign	Het
Rbsn	T	C	6: 92,201,764	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,296,142	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Scn2a	G	A	2: 65,764,819	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,573,407	N593I	probably damaging	Het
Speg	T	C	1: 75,422,508	S2200P	probably benign	Het
Tle1	A	T	4: 72,122,359	H654Q	probably benign	Het
Ttll6	G	A	11: 96,135,762	R124H	probably damaging	Het
Vmn2r111	A	G	17: 22,559,151	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,455,831	S213P	probably damaging	Het
Washc4	A	G	10: 83,560,523	N399S	probably benign	Het
Wdr37	G	A	13: 8,847,627	H198Y		Het
Zfp407	A	G	18: 84,562,454	L178P	probably benign	Het
Zfp882	C	T	8: 71,914,987	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,963,436	V243A	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
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
R9529:Erc2	UTSW	14	28475766	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTCAATGATGCCCAAATATCAGG -3'
(R):5'- TGGCTAACATGGAAGTCTGAGG -3'

Sequencing Primer
(F):5'- CACGAATCTTGGCTTTGG -3'
(R):5'- CTAACATGGAAGTCTGAGGAGAAGC -3'

Posted On

2022-06-15