Mutagenetix > Incidental Mutation

Incidental Mutation 'R9292:Erc2'

704350

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 #

R9292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27776842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 225 (I225N)

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: I225N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: I225N

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 damaging
Transcript: ENSMUST00000210135
AA Change: I233N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211087
AA Change: I225N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: I225N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,812,843	T175I	probably benign	Het
Acat3	T	C	17: 12,927,368	T243A	probably benign	Het
Aebp1	C	A	11: 5,865,260	P264Q	possibly damaging	Het
Aldh1l1	T	C	6: 90,591,885	F723L	probably damaging	Het
Atp13a4	T	A	16: 29,422,682	I723F		Het
Bop1	T	C	15: 76,466,831	T97A	probably benign	Het
Casq1	T	C	1: 172,215,547	Y194C	probably damaging	Het
Cep250	G	A	2: 155,990,768	E1538K	probably damaging	Het
Col12a1	A	T	9: 79,678,523	V1218E	probably benign	Het
Coq10b	T	A	1: 55,071,709	M212K	probably damaging	Het
Dchs1	T	C	7: 105,753,913	T3141A	probably damaging	Het
Dnajc10	A	G	2: 80,346,572	T624A	probably benign	Het
Dock8	A	G	19: 25,183,631		probably benign	Het
Dsg1c	T	A	18: 20,283,718	V892E	probably damaging	Het
Eif4g3	A	G	4: 138,194,071	R1370G	possibly damaging	Het
Elmo1	T	G	13: 20,600,259		probably null	Het
Ermp1	C	A	19: 29,628,649	V422L	probably benign	Het
Fam124b	T	A	1: 80,213,504	H54L	probably benign	Het
Gabbr1	T	G	17: 37,055,892	I336S	possibly damaging	Het
Galk2	T	C	2: 125,975,298	Y336H	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Grm4	A	G	17: 27,473,063	F194S	probably damaging	Het
Gtf2a1	G	A	12: 91,568,190	Q189*	probably null	Het
Gtf3c1	T	C	7: 125,674,391		probably benign	Het
Hspa2	A	G	12: 76,405,273	E247G	probably damaging	Het
Lpar1	T	C	4: 58,486,558	R238G	probably benign	Het
Ltbp1	C	A	17: 75,276,441	S412Y	probably damaging	Het
Nup210	A	C	6: 91,074,253	S383A	possibly damaging	Het
Olfr218	C	T	1: 173,203,532	P59S	probably damaging	Het
Olfr744	T	C	14: 50,619,056	V278A	possibly damaging	Het
Olfr916	T	A	9: 38,657,775	N206Y	probably damaging	Het
Pah	T	A	10: 87,567,356	Y198N	probably damaging	Het
Pcdhga4	A	T	18: 37,686,660	I421L	probably benign	Het
Pde6b	T	C	5: 108,388,885	I149T	probably benign	Het
Peli3	G	A	19: 4,938,089	P81L	possibly damaging	Het
Pfdn5	T	C	15: 102,326,448	S30P	possibly damaging	Het
Plcb3	A	T	19: 6,964,674	L263Q	probably damaging	Het
Pld3	T	C	7: 27,539,454	M190V	probably benign	Het
Rab6a	A	G	7: 100,636,756	E186G	probably benign	Het
Ralyl	T	A	3: 14,107,252	D60E	probably benign	Het
Rtl1	G	A	12: 109,590,239	A1722V	possibly damaging	Het
Scarf1	T	C	11: 75,515,180	Y97H	probably damaging	Het
Sf3a2	T	A	10: 80,804,726	V457E	unknown	Het
Sh2d4b	C	G	14: 40,815,957	E403Q	probably damaging	Het
Slc12a7	A	G	13: 73,784,588	E65G	possibly damaging	Het
Spink5	T	C	18: 44,015,008	V905A	possibly damaging	Het
Spred1	T	C	2: 117,175,351	F198S	probably benign	Het
St18	C	A	1: 6,827,882	T636K	probably benign	Het
Stag3	T	A	5: 138,301,450	D874E	probably benign	Het
Suco	T	C	1: 161,844,005	T502A	probably damaging	Het
Swt1	T	C	1: 151,403,036	I457V	probably benign	Het
Syne2	G	T	12: 75,951,049	C2266F	probably benign	Het
Tcirg1	T	C	19: 3,897,840	N532D	probably damaging	Het
Tfdp1	T	A	8: 13,370,580	N136K	probably benign	Het
Tmem245	T	C	4: 56,937,979	I190V	probably benign	Het
Tmem245	T	C	4: 56,926,173		probably benign	Het
Trp53bp1	C	T	2: 121,215,696	V1208M	probably damaging	Het
Tulp1	T	A	17: 28,363,764	K137*	probably null	Het
Zfp534	A	T	4: 147,674,638	C525S	probably 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
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
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'- TGAAGTCACCGTGGAGGACTTC -3'
(R):5'- TCTCGGGCATTGAGAGTCTG -3'

Sequencing Primer
(F):5'- TGGAGGACTTCACGGCTG -3'
(R):5'- GATTCTCAACTCCATTTCTTCCAATG -3'

Posted On

2022-03-25