Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Erc2'

637869

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 #

R8273 (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 27777139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 324 (D324G)

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably benign
Transcript: ENSMUST00000090302
AA Change: D324G

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: D324G

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 benign
Transcript: ENSMUST00000210135
AA Change: D332G

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000211087
AA Change: D324G

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000211145
AA Change: D324G

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,066,450	V467I	probably benign	Het
Ank1	G	A	8: 23,085,652	G167E	probably damaging	Het
Ano2	G	A	6: 125,982,720	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,463,242	C954R	unknown	Het
Atp13a4	T	G	16: 29,471,902	Y243S		Het
Bend3	T	G	10: 43,510,903	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,921,773	R52C	probably damaging	Het
Ccl22	T	C	8: 94,746,991	W55R	probably damaging	Het
Ccnk	A	G	12: 108,186,499	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,571,541	P1174S	probably damaging	Het
Copa	T	C	1: 172,118,979		probably null	Het
Copg2	C	T	6: 30,816,126	V425M	probably benign	Het
Dnah6	T	C	6: 73,076,599	E2936G	probably benign	Het
Dnah6	T	A	6: 73,195,681	T265S	probably benign	Het
F11	T	A	8: 45,248,607	H363L	possibly damaging	Het
F7	T	C	8: 13,033,981	V222A	probably benign	Het
Fars2	A	G	13: 36,410,110	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flot2	A	G	11: 78,059,195	I417V	probably benign	Het
Fmnl1	T	C	11: 103,186,699	F295S	probably damaging	Het
Gpr89	G	A	3: 96,905,189	T12I	probably benign	Het
Gprc6a	T	C	10: 51,631,274	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,522,851	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,805,050	R152H	probably benign	Het
Haus3	A	G	5: 34,154,091	F532L	probably benign	Het
Inpp4a	A	G	1: 37,368,439		probably benign	Het
Klc4	A	T	17: 46,642,154	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,634,881	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,278,879	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,107,005	D801G	probably damaging	Het
Muc6	T	A	7: 141,640,528	T1411S	unknown	Het
Nalcn	C	A	14: 123,317,024	G954C	probably damaging	Het
Nlrp9b	G	A	7: 20,024,061	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,435,127	L119P	probably damaging	Het
Olfr1361	A	G	13: 21,659,207	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,732,187	V345A	probably benign	Het
Pdzph1	A	T	17: 58,973,014	Y758N	probably benign	Het
Pea15a	T	A	1: 172,199,245	H65L	probably damaging	Het
Pigm	T	A	1: 172,377,957	I420N	probably benign	Het
Pign	A	G	1: 105,589,078	F580L	probably benign	Het
Pkhd1	T	C	1: 20,537,420		probably benign	Het
Plxnc1	T	C	10: 94,813,243	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,990,324	D412N	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rtl1	A	G	12: 109,592,715	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,809,176	F688Y	probably benign	Het
Sgo2b	C	A	8: 63,924,701	R1166L	unknown	Het
Slc12a2	G	T	18: 57,914,266		probably benign	Het
Smpdl3b	T	A	4: 132,738,401	H236L	probably damaging	Het
Spata9	C	A	13: 75,977,547		probably benign	Het
St6galnac4	A	G	2: 32,587,655		probably benign	Het
Stc2	T	A	11: 31,369,777	N29I	possibly damaging	Het
Sun5	A	T	2: 153,865,323	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,678,055	I278V	probably damaging	Het
Trrap	A	G	5: 144,791,165	I565M	probably damaging	Het
Ttl	A	G	2: 129,068,933	K79R	probably benign	Het
Ttn	A	T	2: 76,907,377	Y4319N	unknown	Het
Usp28	T	C	9: 49,026,882	L584P	probably damaging	Het
Wdr27	A	G	17: 14,829,576	S777P	probably benign	Het
Wdr34	A	T	2: 30,031,891	V486D	probably damaging	Het
Wee1	A	G	7: 110,124,484	D202G	probably benign	Het
Wnt5a	T	C	14: 28,522,605	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,412,375	C1768Y	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
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'- AGCCGAGCACTTCACCATTG -3'
(R):5'- TTGAGACTGTAGACATTTTCCAACC -3'

Sequencing Primer
(F):5'- CTTCACCATTGAGCTGACAGAGG -3'
(R):5'- GACATTTTCCAACCTGTGAAAGAGC -3'

Posted On

2020-07-28