Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Erc2'

276260

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

040786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3858 (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: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,863,581 (GRCm39)	S179T	probably benign	Het
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,251,704 (GRCm39)		probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Cd2ap	G	A	17: 43,127,463 (GRCm39)	Q377*	probably null	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	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
Efhb	A	G	17: 53,769,808 (GRCm39)	L167S	possibly damaging	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irs4	T	C	X: 140,507,059 (GRCm39)	E379G	probably damaging	Het
Kcnmb2	T	C	3: 32,252,450 (GRCm39)	V217A	probably damaging	Het
Megf10	T	C	18: 57,408,907 (GRCm39)		probably benign	Het
Mib1	T	A	18: 10,798,409 (GRCm39)	C757S	possibly damaging	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Or12d13	A	T	17: 37,648,117 (GRCm39)	L2*	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Pirb	T	C	7: 3,720,662 (GRCm39)	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,025,301 (GRCm39)	S45P	probably benign	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261 (GRCm39)	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Sis	A	G	3: 72,835,985 (GRCm39)	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tor3a	T	A	1: 156,497,124 (GRCm39)	L140F	probably damaging	Het
Vcf2	T	C	X: 149,203,357 (GRCm39)	Q39R	probably benign	Het
Vmn2r86	A	G	10: 130,291,594 (GRCm39)	M57T	probably benign	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	probably 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
R3859: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