Mutagenetix > Incidental Mutations

Incidental Mutation 'R7221:Erc2'

561842

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27653158 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 111 (H111R)

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210327] [ENSMUST00000211087] [ENSMUST00000211145]

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: H111R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: H111R

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

possibly damaging
Transcript: ENSMUST00000210135
AA Change: H111R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210327
AA Change: H111R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211087
AA Change: H111R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211145
AA Change: H111R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	G	3: 108,475,001	D232A	possibly damaging	Het
Abr	A	C	11: 76,423,161	M720R	probably benign	Het
Acad10	G	A	5: 121,630,210	T761M	probably damaging	Het
Agxt	G	T	1: 93,137,901	G164V	possibly damaging	Het
Ankar	C	T	1: 72,650,231	G1247D	probably damaging	Het
Bptf	A	C	11: 107,054,832	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,266,547	H195R	possibly damaging	Het
C130079G13Rik	A	G	3: 59,928,933		probably benign	Het
Cacna2d4	G	T	6: 119,236,663	R14S	probably benign	Het
Cep126	A	T	9: 8,100,987	C515*	probably null	Het
Chia1	A	T	3: 106,131,920	N442I	probably damaging	Het
Clasp2	A	G	9: 113,852,757	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,373,661	F519L	probably benign	Het
Cntrl	T	A	2: 35,151,857	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,528,565	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,635,978	Q223R	possibly damaging	Het
Defb37	A	T	8: 18,990,972	M1K	probably null	Het
Dnah7c	A	T	1: 46,455,777	Q55L	possibly damaging	Het
Eif2b4	A	T	5: 31,187,787	D463E	possibly damaging	Het
Elovl1	C	T	4: 118,431,614	H167Y	probably damaging	Het
Emb	T	A	13: 117,267,477	L255Q	probably damaging	Het
Eogt	T	C	6: 97,112,724	Y465C	probably damaging	Het
Fam234b	T	C	6: 135,228,531	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,732,748		probably null	Het
Flrt3	T	A	2: 140,661,170	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,556,157	R993G	probably benign	Het
Gm11639	A	G	11: 104,900,606	N2882S	probably benign	Het
Gm13762	A	G	2: 88,973,153	V246A	probably damaging	Het
Gm14325	T	C	2: 177,834,610	T14A	probably damaging	Het
Gm5464	T	A	14: 66,869,232	V106D	unknown	Het
Gm7697	T	G	8: 69,522,664	D50A	probably benign	Het
Gpatch11	T	A	17: 78,842,117	I182N	possibly damaging	Het
Grm6	A	G	11: 50,863,043	R725G	probably damaging	Het
Hap1	A	T	11: 100,348,829	M588K	probably benign	Het
Icam2	A	G	11: 106,382,442	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613	M648T	probably benign	Het
Ipo11	A	T	13: 106,892,557	L296Q	probably damaging	Het
Kirrel	G	A	3: 87,086,397	Q518*	probably null	Het
Krt18	G	T	15: 102,029,532	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,118,935	K91*	probably null	Het
Marf1	C	A	16: 14,142,485	R565L	probably damaging	Het
Med13	A	T	11: 86,288,095	D1458E	probably benign	Het
Mroh8	T	A	2: 157,229,917	Y556F	probably benign	Het
Muc16	C	T	9: 18,642,199	G4266D	probably benign	Het
Nsrp1	A	T	11: 77,048,423	F182I	probably damaging	Het
Obox3	A	T	7: 15,626,058	Y229N	probably benign	Het
Olfr1184	T	A	2: 88,487,629	V299D	probably damaging	Het
Olfr124	A	G	17: 37,805,561	K139E	probably benign	Het
Olfr1247	T	C	2: 89,609,928	Y58C	probably damaging	Het
Olfr1359	T	C	13: 21,703,102	S34P	probably damaging	Het
Olfr26	A	G	9: 38,855,242	Y60C	probably damaging	Het
Olfr746	A	T	14: 50,654,071	Y278F	probably damaging	Het
Pabpc2	T	A	18: 39,773,910	V76D	possibly damaging	Het
Parp9	T	C	16: 35,953,701	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004	T455A	probably damaging	Het
Phactr2	A	C	10: 13,247,039	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,994,189	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,300,995	R749H	probably benign	Het
Plec	A	G	15: 76,175,774	V3321A	probably damaging	Het
Plod2	T	C	9: 92,584,527	V180A	probably damaging	Het
Plppr5	A	G	3: 117,620,969	I80V	probably damaging	Het
Rubcn	T	C	16: 32,866,923		probably null	Het
Sacs	T	C	14: 61,208,806	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,703,826	Y414*	probably null	Het
Slc45a4	A	T	15: 73,586,410	M430K	probably benign	Het
Smg1	A	G	7: 118,182,797	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,456,916	V316A	probably benign	Het
Srl	T	A	16: 4,482,947	E753D	probably damaging	Het
Thada	T	C	17: 84,464,366	T23A	possibly damaging	Het
Tmem231	T	C	8: 111,933,676	T31A	probably benign	Het
Tpr	C	T	1: 150,446,178	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,941,851	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,747,052	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,480,167	T466S	probably benign	Het
Vnn1	A	G	10: 23,895,054	D60G	probably benign	Het
Wiz	G	A	17: 32,359,165	P449S	probably benign	Het
Zic1	A	G	9: 91,364,732	S96P	probably damaging	Het
Zw10	T	A	9: 49,069,712	S471T	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCAGTCCCTTAATGCAGC -3'
(R):5'- TGCTGTTCATGGAAGACCCC -3'

Sequencing Primer
(F):5'- AGTCCCTTAATGCAGCCTATG -3'
(R):5'- TCATGGAAGACCCCAGTTTG -3'

Posted On

2019-06-26