Mutagenetix > Incidental Mutation

Incidental Mutation 'R7890:Erc2'

609296

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 28040341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,884,122	K551N	probably benign	Het
Acp4	A	C	7: 44,254,104	L262R	probably damaging	Het
Acsf3	G	T	8: 122,785,965		probably null	Het
Ago4	T	C	4: 126,526,076	Q36R	probably benign	Het
Ankrd31	T	A	13: 96,831,871	I672K	probably benign	Het
Astn1	A	T	1: 158,580,333	D628V	probably damaging	Het
Brca2	T	C	5: 150,539,381	V870A	possibly damaging	Het
Camk4	T	C	18: 33,185,005	V405A	probably benign	Het
Carmil1	A	T	13: 24,013,232	S146T		Het
Cflar	T	A	1: 58,752,756	L406Q		Het
Clic6	T	A	16: 92,499,387	S312T	probably benign	Het
Col5a2	T	C	1: 45,404,987		probably null	Het
Ctc1	C	A	11: 69,026,529	Q384K	probably damaging	Het
Defa24	A	G	8: 21,734,540	K2E	probably damaging	Het
Dis3l	C	A	9: 64,322,471	A309S	probably benign	Het
Dnah9	A	G	11: 66,072,072	S1806P	probably damaging	Het
Dolk	C	T	2: 30,284,714	V440I	probably damaging	Het
Fntb	T	C	12: 76,873,450		probably null	Het
Gm12569	C	T	11: 51,234,838	S196L	probably damaging	Het
Gm4846	A	T	1: 166,494,659	V113E	probably benign	Het
Gm5592	G	T	7: 41,286,759	Q228H	probably damaging	Het
Gm5916	T	A	9: 36,120,995	T48S	possibly damaging	Het
Ift172	G	T	5: 31,283,081	Y287*	probably null	Het
Il27ra	T	C	8: 84,033,985	I450M	probably damaging	Het
Krtap31-2	T	A	11: 99,936,551	C70S	possibly damaging	Het
Lipo4	T	A	19: 33,501,564	H292L	probably damaging	Het
Lyst	T	C	13: 13,740,569	F3283L	probably damaging	Het
Mctp1	T	G	13: 76,827,757	C750G	probably damaging	Het
Mtmr7	T	C	8: 40,551,735	D600G	possibly damaging	Het
Mylk	C	T	16: 34,963,648	Q1395*	probably null	Het
Nap1l5	T	A	6: 58,906,888	D27V	probably damaging	Het
Nfkbib	T	C	7: 28,762,087	D75G	probably damaging	Het
Nlrc4	T	A	17: 74,437,508	M793L	probably benign	Het
Olfr451-ps1	T	A	6: 42,801,492	C250*	probably null	Het
Olfr472	T	C	7: 107,903,043	S109P	probably benign	Het
Olfr599	G	T	7: 103,338,330	C92F	probably benign	Het
Olfr832	T	C	9: 18,945,503	M285T	probably benign	Het
Olfr970	C	T	9: 39,820,014	A125V	probably damaging	Het
Pcdh15	G	A	10: 74,642,314	R207Q	probably damaging	Het
Plek	T	C	11: 16,995,238	T54A	probably benign	Het
Pno1	C	A	11: 17,211,443	R22L	probably benign	Het
Prkca	A	T	11: 108,012,684	N287K	probably damaging	Het
Rapgef6	C	G	11: 54,626,723	H414D	probably damaging	Het
Rpa1	CA	C	11: 75,307,224		probably null	Het
Rpap2	T	C	5: 107,606,911	C136R	probably damaging	Het
Rtl1	C	T	12: 109,592,817	E863K	possibly damaging	Het
Ryr3	A	T	2: 112,926,912	I366N	probably damaging	Het
Scn9a	T	C	2: 66,543,112	I508V	probably benign	Het
Sec14l3	A	G	11: 4,074,795	D248G	probably damaging	Het
Six6	A	T	12: 72,940,543	Q163L	probably benign	Het
Slco6c1	A	G	1: 97,062,467	V683A	possibly damaging	Het
Smc1b	A	G	15: 85,066,328	V1165A	probably damaging	Het
Smgc	A	T	15: 91,847,076	Q241L	possibly damaging	Het
Tdrp	A	T	8: 13,955,727	S65T	probably damaging	Het
Tg	A	T	15: 66,683,814	Y785F	probably damaging	Het
Themis2	T	G	4: 132,789,643	Q182P	probably damaging	Het
Tmem86b	G	T	7: 4,628,405	S216*	probably null	Het
Ttyh2	T	A	11: 114,686,446	I61N	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,540	T397S	probably benign	Het
Zfp141	C	T	7: 42,476,479	D190N	probably damaging	Het
Zfp58	T	C	13: 67,491,995	R126G	possibly 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
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
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'- TTTCAGTAGCAGAAGCCCC -3'
(R):5'- AGTTCGGCGATCTTCTTGTC -3'

Sequencing Primer
(F):5'- GGGACACTATCACAGACTTTAAAG -3'
(R):5'- CGGCGATCTTCTTGTCTTTGTCG -3'

Posted On

2019-12-20