Mutagenetix > Incidental Mutation

Incidental Mutation 'R3859:Erc2'

276304

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

D14Ertd171e, ELKS2alpha, CAST

MMRRC Submission

040787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27344385-28200494 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 28197599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147744 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

unknown
Transcript: ENSMUST00000090302
AA Change: S959G

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: S959G

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 benign
Transcript: ENSMUST00000210135

Predicted Effect

probably benign
Transcript: ENSMUST00000210924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224045

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

95% (36/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,090,218 (GRCm39)	N305S	probably benign	Het
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Cav2	G	T	6: 17,281,462 (GRCm39)	D35Y	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Ctla2b	T	A	13: 61,043,857 (GRCm39)	Y128F	possibly damaging	Het
Dnajc5b	G	T	3: 19,628,966 (GRCm39)	G87*	probably null	Het
Ezhip	A	G	X: 5,994,710 (GRCm39)	S102P	possibly damaging	Het
Fat3	G	A	9: 15,908,524 (GRCm39)	Q2493*	probably null	Het
Fbl	G	A	7: 27,873,935 (GRCm39)		probably benign	Het
Fbp1	C	T	13: 63,012,930 (GRCm39)	G88S	probably damaging	Het
Fzd3	A	T	14: 65,477,288 (GRCm39)	C89S	possibly damaging	Het
Gnao1	C	T	8: 94,538,273 (GRCm39)		probably benign	Het
Hspa14	A	T	2: 3,495,616 (GRCm39)	C304*	probably null	Het
Itih4	T	C	14: 30,614,286 (GRCm39)	L412P	probably damaging	Het
Kdm2b	A	G	5: 123,018,290 (GRCm39)	L995P	probably damaging	Het
Krt12	G	A	11: 99,309,319 (GRCm39)	L314F	possibly damaging	Het
Nfatc1	T	C	18: 80,708,490 (GRCm39)		probably benign	Het
Or4c111	A	G	2: 88,844,405 (GRCm39)	M1T	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Or8b55	G	A	9: 38,727,443 (GRCm39)	V215I	probably benign	Het
Papss1	T	A	3: 131,313,096 (GRCm39)	L349Q	probably benign	Het
Pcdha6	C	T	18: 37,102,984 (GRCm39)	P6S	possibly damaging	Het
Pik3r2	T	C	8: 71,222,630 (GRCm39)	E487G	probably damaging	Het
Pkd1	A	G	17: 24,797,066 (GRCm39)		probably benign	Het
Prl8a9	C	T	13: 27,742,147 (GRCm39)	G238E	probably damaging	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Purg	T	C	8: 33,876,587 (GRCm39)	F75S	possibly damaging	Het
Rpgrip1l	T	C	8: 91,990,286 (GRCm39)	T719A	probably benign	Het
Slc8a3	G	A	12: 81,361,646 (GRCm39)	P391L	probably damaging	Het
Syne2	T	C	12: 75,976,558 (GRCm39)	L1241P	possibly damaging	Het
Tdrd12	A	G	7: 35,193,245 (GRCm39)	F402L	possibly damaging	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tram2	A	C	1: 21,074,204 (GRCm39)	F245V	probably damaging	Het
Trim30b	T	C	7: 104,006,487 (GRCm39)	E123G	probably benign	Het
Unc13c	G	T	9: 73,606,390 (GRCm39)	Y1323*	probably null	Het
Zfp2	T	C	11: 50,790,923 (GRCm39)	I373M	possibly damaging	Het

Other mutations in Erc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Erc2	APN	14	27,762,478 (GRCm39)	missense	probably damaging	0.98
IGL01862:Erc2	APN	14	27,993,526 (GRCm39)	splice site	probably benign
IGL01906:Erc2	APN	14	27,863,263 (GRCm39)	missense	probably damaging	0.99
IGL02177:Erc2	APN	14	27,620,580 (GRCm39)	missense	probably benign	0.00
IGL02481:Erc2	APN	14	27,375,028 (GRCm39)	missense	probably damaging	1.00
IGL02483:Erc2	APN	14	27,375,028 (GRCm39)	missense	probably damaging	1.00
IGL02623:Erc2	APN	14	27,498,937 (GRCm39)	missense	probably damaging	1.00
IGL03252:Erc2	APN	14	28,197,606 (GRCm39)	utr 3 prime	probably benign
IGL03378:Erc2	APN	14	27,733,680 (GRCm39)	missense	probably damaging	1.00
lobe	UTSW	14	28,039,208 (GRCm39)	missense	probably damaging	0.96
R0091:Erc2	UTSW	14	27,498,781 (GRCm39)	critical splice acceptor site	probably null
R0309:Erc2	UTSW	14	27,863,182 (GRCm39)	missense	probably damaging	0.98
R0357:Erc2	UTSW	14	27,498,979 (GRCm39)	missense	probably damaging	0.99
R0378:Erc2	UTSW	14	27,733,651 (GRCm39)	missense	probably damaging	1.00
R0550:Erc2	UTSW	14	27,993,608 (GRCm39)	missense	possibly damaging	0.74
R0815:Erc2	UTSW	14	27,747,105 (GRCm39)	missense	probably benign	0.04
R0863:Erc2	UTSW	14	27,747,105 (GRCm39)	missense	probably benign	0.04
R1121:Erc2	UTSW	14	28,197,612 (GRCm39)	utr 3 prime	probably benign
R1164:Erc2	UTSW	14	28,024,929 (GRCm39)	missense	probably damaging	0.99
R1498:Erc2	UTSW	14	28,024,855 (GRCm39)	missense	probably benign	0.27
R1500:Erc2	UTSW	14	27,993,617 (GRCm39)	missense	probably damaging	0.98
R1555:Erc2	UTSW	14	27,733,622 (GRCm39)	missense	probably damaging	0.99
R1894:Erc2	UTSW	14	27,863,185 (GRCm39)	missense	probably damaging	0.99
R1950:Erc2	UTSW	14	27,634,857 (GRCm39)	missense	probably damaging	0.99
R1991:Erc2	UTSW	14	27,733,593 (GRCm39)	missense	probably benign	0.34
R2698:Erc2	UTSW	14	27,993,662 (GRCm39)	missense	probably benign	0.06
R2847:Erc2	UTSW	14	27,762,445 (GRCm39)	missense	probably damaging	0.97
R3015:Erc2	UTSW	14	27,733,732 (GRCm39)	critical splice donor site	probably null
R3612:Erc2	UTSW	14	27,499,134 (GRCm39)	missense	possibly damaging	0.69
R3759:Erc2	UTSW	14	27,747,120 (GRCm39)	missense	possibly damaging	0.94
R3857:Erc2	UTSW	14	28,197,599 (GRCm39)	utr 3 prime	probably benign
R3858:Erc2	UTSW	14	28,197,599 (GRCm39)	utr 3 prime	probably benign
R4556:Erc2	UTSW	14	28,024,861 (GRCm39)	missense	probably damaging	1.00
R4739:Erc2	UTSW	14	27,498,838 (GRCm39)	missense	probably damaging	1.00
R4898:Erc2	UTSW	14	27,375,285 (GRCm39)	missense	probably damaging	1.00
R5068:Erc2	UTSW	14	28,024,900 (GRCm39)	missense	possibly damaging	0.63
R5113:Erc2	UTSW	14	27,374,829 (GRCm39)	missense	probably benign	0.40
R5418:Erc2	UTSW	14	27,688,467 (GRCm39)	missense	probably benign	0.14
R5741:Erc2	UTSW	14	28,024,826 (GRCm39)	splice site	probably null
R5819:Erc2	UTSW	14	27,863,326 (GRCm39)	missense	probably damaging	0.97
R5930:Erc2	UTSW	14	27,498,815 (GRCm39)	missense	probably damaging	0.99
R6073:Erc2	UTSW	14	27,733,593 (GRCm39)	missense	probably benign	0.00
R6150:Erc2	UTSW	14	27,863,248 (GRCm39)	missense	probably damaging	0.97
R6182:Erc2	UTSW	14	28,039,210 (GRCm39)	missense	probably damaging	0.99
R6188:Erc2	UTSW	14	28,039,208 (GRCm39)	missense	probably damaging	0.96
R6267:Erc2	UTSW	14	27,802,112 (GRCm39)	missense	probably damaging	1.00
R6296:Erc2	UTSW	14	27,802,112 (GRCm39)	missense	probably damaging	1.00
R6730:Erc2	UTSW	14	27,620,524 (GRCm39)	missense	possibly damaging	0.95
R6969:Erc2	UTSW	14	27,620,553 (GRCm39)	missense	probably damaging	1.00
R7095:Erc2	UTSW	14	27,620,550 (GRCm39)	missense	probably damaging	0.99
R7221:Erc2	UTSW	14	27,375,115 (GRCm39)	missense	probably damaging	0.97
R7365:Erc2	UTSW	14	27,762,346 (GRCm39)	missense	probably damaging	1.00
R7454:Erc2	UTSW	14	28,024,948 (GRCm39)	missense	possibly damaging	0.92
R7763:Erc2	UTSW	14	27,598,161 (GRCm39)	critical splice donor site	probably null
R7784:Erc2	UTSW	14	27,620,551 (GRCm39)	missense	probably damaging	0.96
R7890:Erc2	UTSW	14	27,762,298 (GRCm39)	critical splice acceptor site	probably null
R7894:Erc2	UTSW	14	27,499,165 (GRCm39)	missense	probably damaging	1.00
R8031:Erc2	UTSW	14	27,733,649 (GRCm39)	missense	probably damaging	0.99
R8206:Erc2	UTSW	14	28,024,972 (GRCm39)	splice site	probably null
R8273:Erc2	UTSW	14	27,499,096 (GRCm39)	missense	probably benign	0.41
R8304:Erc2	UTSW	14	27,375,122 (GRCm39)	missense	probably damaging	0.99
R8387:Erc2	UTSW	14	27,375,253 (GRCm39)	missense	possibly damaging	0.92
R8751:Erc2	UTSW	14	27,802,145 (GRCm39)	missense	possibly damaging	0.78
R8851:Erc2	UTSW	14	28,039,216 (GRCm39)	missense	probably null	0.99
R9130:Erc2	UTSW	14	27,751,418 (GRCm39)	missense	probably benign	0.25
R9292:Erc2	UTSW	14	27,498,799 (GRCm39)	missense	probably damaging	1.00
R9441:Erc2	UTSW	14	27,802,114 (GRCm39)	missense	possibly damaging	0.58
R9452:Erc2	UTSW	14	27,733,690 (GRCm39)	missense	probably damaging	1.00
R9529:Erc2	UTSW	14	28,197,723 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATTGTGGAAAACGTGACCCC -3'
(R):5'- ACTTCGTAAAGGTCCAAATCCTTG -3'

Sequencing Primer
(F):5'- GTGACCCCAACCAATGAGAGTG -3'
(R):5'- AAACGAAGGGGTTGTCATTTTCTCC -3'

Posted On

2015-04-06