Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02623:Erc2'

300963

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27776980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 271 (D271G)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: D271G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: D271G

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 damaging
Transcript: ENSMUST00000210135
AA Change: D279G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211087
AA Change: D271G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: D271G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 91,056,144	I35F	probably benign	Het
Acad10	A	G	5: 121,629,930	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,132,745	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,178,083		probably benign	Het
Armc8	T	C	9: 99,527,069		probably benign	Het
B3gnt5	A	G	16: 19,769,610	D193G	probably damaging	Het
Cacng1	A	G	11: 107,704,319	F144S	probably damaging	Het
Dnm3	T	A	1: 162,355,432	T105S	probably damaging	Het
Efcab6	T	A	15: 83,879,448	I1228F	probably damaging	Het
Fat3	T	C	9: 15,997,137	Y2523C	probably damaging	Het
Fhl4	A	G	10: 85,098,171	F249L	probably damaging	Het
Gm17782	T	C	17: 36,162,066		probably benign	Het
Gm4787	A	G	12: 81,378,728	Y219H	probably damaging	Het
Hk1	A	G	10: 62,292,359	L328P	probably benign	Het
Hspa12a	T	A	19: 58,809,551	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,618,389	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,195	R562S	probably benign	Het
Lct	T	C	1: 128,308,251	S340G	probably benign	Het
Maats1	T	A	16: 38,333,778	D135V	possibly damaging	Het
Mettl25	C	A	10: 105,826,324	G262W	probably damaging	Het
Mindy3	G	A	2: 12,364,483	Q142*	probably null	Het
Olfr1045	A	T	2: 86,198,019	H244Q	probably damaging	Het
Optn	T	C	2: 5,035,022	E318G	probably damaging	Het
Pan2	T	C	10: 128,312,899	S443P	probably benign	Het
Parva	A	G	7: 112,576,439	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,873	L3816Q	probably damaging	Het
Polq	T	C	16: 37,060,375	F967S	probably benign	Het
Prdm16	T	C	4: 154,340,877	N817S	probably damaging	Het
Ptprt	C	A	2: 161,607,452		probably benign	Het
Rbbp8nl	T	A	2: 180,281,443	S154C	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slit1	T	C	19: 41,651,683	I169V	probably damaging	Het
Smyd4	G	T	11: 75,390,064		probably benign	Het
Tial1	A	G	7: 128,443,883	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,802,451	L81P	probably damaging	Het
Tmem94	T	A	11: 115,796,401	C1115*	probably null	Het
Tns3	A	G	11: 8,437,141	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Zfp106	A	T	2: 120,545,914		probably null	Het
Zfp119b	T	C	17: 55,939,793	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,212,015		probably null	Het
Zxdc	G	T	6: 90,382,370	K661N	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
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
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

Posted On

2015-04-16