Mutagenetix > Incidental Mutation

Incidental Mutation 'R3015:Erc2'

257654

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

040536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27344385-28200494 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 27733732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably null
Transcript: ENSMUST00000090302

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

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 null
Transcript: ENSMUST00000210135

Predicted Effect

probably null
Transcript: ENSMUST00000210924

Predicted Effect

probably null
Transcript: ENSMUST00000211145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,913 (GRCm39)	H380R	probably benign	Het
Aff3	A	T	1: 38,249,649 (GRCm39)	I486N	probably benign	Het
Bltp1	T	A	3: 36,929,611 (GRCm39)	F76Y	probably damaging	Het
Cfap44	A	C	16: 44,230,832 (GRCm39)	D271A	probably benign	Het
Dbndd2	T	A	2: 164,330,270 (GRCm39)	V34D	probably damaging	Het
Fcgbp	T	C	7: 27,774,838 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,417,402 (GRCm39)	S2036P	probably damaging	Het
Golph3l	A	G	3: 95,499,024 (GRCm39)		probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ifrd2	G	A	9: 107,467,221 (GRCm39)	G60S	probably null	Het
Ints9	T	A	14: 65,187,727 (GRCm39)	W3R	probably benign	Het
Jmjd1c	A	G	10: 66,993,711 (GRCm39)	E64G	probably damaging	Het
Katnip	T	A	7: 125,465,512 (GRCm39)	H1321Q	probably damaging	Het
Matn3	A	C	12: 9,002,217 (GRCm39)	Q143P	probably damaging	Het
Myo18a	A	T	11: 77,749,846 (GRCm39)		probably benign	Het
Nop9	T	C	14: 55,988,631 (GRCm39)	S358P	probably benign	Het
Pard3b	T	C	1: 62,384,037 (GRCm39)	S801P	probably damaging	Het
Pax2	T	C	19: 44,804,463 (GRCm39)	F268L	probably damaging	Het
Pik3r1	A	G	13: 101,823,771 (GRCm39)	I538T	probably damaging	Het
Plekha8	T	C	6: 54,599,107 (GRCm39)	S214P	probably benign	Het
Ppme1	T	C	7: 99,981,084 (GRCm39)	H352R	probably damaging	Het
Ppp1r26	A	C	2: 28,342,314 (GRCm39)	D648A	probably damaging	Het
Prom1	C	A	5: 44,191,733 (GRCm39)	V337F	probably damaging	Het
Rapgef4	T	C	2: 72,028,717 (GRCm39)	I378T	probably damaging	Het
Rnf115	T	C	3: 96,661,675 (GRCm39)	S43P	probably damaging	Het
Rnf216	A	G	5: 143,061,480 (GRCm39)		probably null	Het
Scn7a	G	T	2: 66,530,240 (GRCm39)	Q702K	probably benign	Het
Shisal2b	T	A	13: 104,994,899 (GRCm39)	I83F	possibly damaging	Het
Slc2a1	T	A	4: 118,989,340 (GRCm39)	N13K	probably damaging	Het
Tnr	A	G	1: 159,715,829 (GRCm39)	I864V	probably benign	Het
Tspyl3	A	T	2: 153,066,650 (GRCm39)	M196K	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Umod	T	C	7: 119,071,763 (GRCm39)	D326G	probably damaging	Het
Upf2	A	G	2: 5,980,890 (GRCm39)	D492G	unknown	Het
Vash1	A	G	12: 86,732,194 (GRCm39)	T126A	probably benign	Het
Vsig10l	T	A	7: 43,116,881 (GRCm39)	I574K	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
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
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'- CGAATCTTGGCTTTGGTTACATAG -3'
(R):5'- GACAGCCAAAGGTGATGCTG -3'

Sequencing Primer
(F):5'- CTTGGCTTTGGTTACATAGAAAATG -3'
(R):5'- CAGTTTCAAGAAGATGTCTGCAGTG -3'

Posted On

2015-01-11