Mutagenetix > Incidental Mutations

Incidental Mutation 'R1894:Erc2'

211839

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

039914-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28141228 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 804 (E804G)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: E800G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: E800G

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: E824G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: E470G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: E804G

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,664,576	I157F	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Ago4	A	G	4: 126,512,600	Y306H	probably benign	Het
Cblc	T	C	7: 19,792,577	T196A	probably damaging	Het
Ccdc109b	T	C	3: 129,934,663	H55R	probably benign	Het
Cfap52	T	A	11: 67,953,619		probably null	Het
Cops3	T	C	11: 59,820,018	N375S	probably benign	Het
Crb1	T	C	1: 139,243,193	T759A	probably benign	Het
Dnah3	T	C	7: 120,086,334	K153E	probably benign	Het
Elovl1	C	T	4: 118,430,748	S27F	probably damaging	Het
Fam110b	G	T	4: 5,798,840	C86F	probably damaging	Het
Fbn1	T	A	2: 125,394,621	R380W	probably damaging	Het
Gatad2a	C	T	8: 69,916,651	R221Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,115	P677L	probably damaging	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,079,129	V136A	unknown	Het
Gmip	T	A	8: 69,820,972	L971H	probably damaging	Het
Gnptab	G	A	10: 88,419,127	E192K	possibly damaging	Het
Grm7	G	A	6: 111,358,607	V660I	probably benign	Het
Helz2	G	A	2: 181,234,289	P1471S	probably damaging	Het
Herc1	G	A	9: 66,479,461	G3786S	probably damaging	Het
Isg20	T	C	7: 78,919,899	V206A	probably benign	Het
Jund	T	A	8: 70,699,821	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,425,341	I263F	probably damaging	Het
Kif2c	A	T	4: 117,162,223	L561Q	probably benign	Het
Klhl3	T	C	13: 58,009,375	D546G	probably damaging	Het
Klk1b4	A	T	7: 44,209,630	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,787,961	C225S	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Med18	G	A	4: 132,459,931	R86*	probably null	Het
Mfsd2b	T	C	12: 4,869,155	E63G	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,414,768	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,354,671	M411L	probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Nup214	A	T	2: 31,996,380	T585S	possibly damaging	Het
Olfr1025-ps1	C	T	2: 85,918,255	T110I	probably benign	Het
Olfr807	A	T	10: 129,755,074	C125*	probably null	Het
Olfr873	T	C	9: 20,300,337	S47P	probably benign	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pih1d1	T	A	7: 45,157,741	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,191,678	F181L	probably benign	Het
Prx	C	T	7: 27,519,110	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,808,473	V5E	probably damaging	Het
Rassf9	C	A	10: 102,544,894	R44S	possibly damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Sec16b	T	A	1: 157,552,975	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,195,110	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,872,259	C721Y	probably damaging	Het
Slx4ip	A	T	2: 137,068,118	K344N	probably benign	Het
Sorcs3	A	T	19: 48,794,274	Q1076L	probably benign	Het
Spata21	A	T	4: 141,111,381	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,728,122	P533H	probably benign	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Tex14	T	G	11: 87,474,448	F61V	probably damaging	Het
Timp3	C	T	10: 86,345,852	R196*	probably null	Het
Tll2	A	G	19: 41,088,671		probably null	Het
Tppp	A	G	13: 74,021,207	D22G	possibly damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Uaca	T	C	9: 60,870,436	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,049,718	E146G	probably damaging	Het
Vmn1r233	T	C	17: 20,993,732	S319G	probably benign	Het
Wdr47	A	T	3: 108,623,376	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,805,336		probably null	Het
Zfp420	A	T	7: 29,874,508	H51L	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
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

Predicted Primers

PCR Primer
(F):5'- CCAATTTAATAGACCTTGGGGAGTTG -3'
(R):5'- CCATCAAAGTGGGGTGACAG -3'

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

Posted On

2014-06-30