Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Erc2'

20237

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0091 (G1)

Quality Score

142

Status

Validated (trace)

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 27776824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210135] [ENSMUST00000211087] [ENSMUST00000211087] [ENSMUST00000211145] [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: 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

noncoding transcript
Transcript: ENSMUST00000209752

Predicted Effect

probably null
Transcript: ENSMUST00000210135

Predicted Effect

probably null
Transcript: ENSMUST00000210135

Predicted Effect

probably null
Transcript: ENSMUST00000211087

Predicted Effect

probably null
Transcript: ENSMUST00000211087

Predicted Effect

probably null
Transcript: ENSMUST00000211145

Predicted Effect

probably null
Transcript: ENSMUST00000211145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,138,530	S278P	possibly damaging	Het
Adam11	A	G	11: 102,772,839	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,544,229	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,270,998		probably null	Het
Adrb2	A	G	18: 62,179,019	L245P	probably benign	Het
Aebp2	T	C	6: 140,644,074		probably null	Het
Arhgap23	A	G	11: 97,452,244	T240A	probably benign	Het
Atp10a	T	C	7: 58,774,046		probably benign	Het
Atp13a4	T	A	16: 29,455,395	Y416F	probably damaging	Het
Atp5g2	A	C	15: 102,663,057	L133R	probably damaging	Het
Bicral	A	T	17: 46,825,307	Y326N	probably damaging	Het
Chst4	T	C	8: 110,030,665	S189G	probably damaging	Het
Cnot1	A	T	8: 95,763,144	I477N	probably damaging	Het
Col7a1	G	T	9: 108,967,506		probably benign	Het
Dchs1	A	G	7: 105,766,094		probably benign	Het
Dcn	A	G	10: 97,506,689	N169S	probably benign	Het
Dnajc6	T	C	4: 101,616,777		probably benign	Het
Egln3	A	G	12: 54,181,646	F225L	probably benign	Het
Erap1	G	A	13: 74,668,052	R100Q	possibly damaging	Het
Fto	G	A	8: 91,441,807		probably null	Het
Gdap1l1	C	T	2: 163,446,091	P80S	probably damaging	Het
Gm1123	T	C	9: 99,023,352	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,321,897		probably benign	Het
Ift80	A	T	3: 68,914,675	L679Q	probably damaging	Het
Il18	A	G	9: 50,576,713		probably benign	Het
Inhbb	T	C	1: 119,417,395	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,844,479		probably benign	Het
Krt20	A	G	11: 99,437,814	V95A	probably damaging	Het
Lck	A	T	4: 129,555,681	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,540,979	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,214,243	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,793,733	C1000R	probably damaging	Het
Matn3	G	A	12: 8,952,105	D106N	probably damaging	Het
Micalcl	A	G	7: 112,381,296	E49G	probably benign	Het
Mmadhc	A	G	2: 50,292,857	S36P	probably damaging	Het
Morn1	T	C	4: 155,145,172	Y433H	probably damaging	Het
Mpo	A	G	11: 87,801,610	M525V	probably benign	Het
Myo5a	C	T	9: 75,161,492	R659C	probably damaging	Het
Obox6	T	C	7: 15,834,439	S171G	probably benign	Het
Olfr1280	T	A	2: 111,316,173	D231E	probably benign	Het
Olfr347	A	G	2: 36,734,905	N195D	probably damaging	Het
Olfr998	A	T	2: 85,591,352	N271Y	probably benign	Het
P2ry14	A	G	3: 59,115,893	Y49H	probably benign	Het
Papss2	C	T	19: 32,633,902	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,085,392	T206A	probably benign	Het
Pex6	A	G	17: 46,711,918	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prdx2	T	G	8: 84,971,701		probably benign	Het
Ptbp2	A	T	3: 119,720,661	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,352,606	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,898,493		probably null	Het
Rora	G	A	9: 69,374,048	R314H	probably damaging	Het
Rufy4	T	C	1: 74,128,936		probably benign	Het
Sag	T	C	1: 87,814,680	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,265,164	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,277,555	N578S	probably benign	Het
Soat2	A	G	15: 102,158,139	Y285C	probably damaging	Het
Syk	A	G	13: 52,640,733	Y478C	probably damaging	Het
Syne4	G	A	7: 30,318,919	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,435,102	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttc19	A	G	11: 62,309,084	D218G	probably damaging	Het
Tut1	T	C	19: 8,965,436	V629A	probably damaging	Het
Txndc11	T	C	16: 11,088,104	N521D	probably benign	Het
Ushbp1	T	C	8: 71,388,970	E405G	possibly damaging	Het
Usp46	C	T	5: 74,003,257	R246Q	probably benign	Het
Utrn	T	C	10: 12,735,204	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,041,813	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,496,916	T398I	probably benign	Het
Ythdc1	T	A	5: 86,820,701		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
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
R9452:Erc2	UTSW	14	28011733	missense	probably damaging	1.00
R9529:Erc2	UTSW	14	28475766	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTGTCCCATGCTTCTGAAGTCAC -3'
(R):5'- AATGGACTCGTCTCGGGCATTG -3'

Sequencing Primer
(F):5'- TCTGAAGTCACCGTGGAGG -3'
(R):5'- TGTCTTCCGCAGAAGGAAC -3'

Posted On

2013-04-11