Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Erc2'

420582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

D14Ertd171e, ELKS2alpha, CAST

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

27344385-28200494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 27733680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 585 (S585R)

Ref Sequence

ENSEMBL: ENSMUSP00000147981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210924] [ENSMUST00000211145]

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: S577R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: S577R

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: S585R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: S243R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: S577R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,778 (GRCm39)	I261N	probably benign	Het
Bace1	T	A	9: 45,770,199 (GRCm39)		probably null	Het
Caprin2	G	T	6: 148,779,352 (GRCm39)	Q152K	probably benign	Het
Cdh16	C	T	8: 105,345,917 (GRCm39)	D285N	probably benign	Het
Cnnm2	G	A	19: 46,866,473 (GRCm39)	A874T	possibly damaging	Het
Dhx38	A	T	8: 110,285,722 (GRCm39)		probably null	Het
Dnhd1	A	C	7: 105,362,940 (GRCm39)	E3834A	possibly damaging	Het
Gli3	A	G	13: 15,819,005 (GRCm39)	E269G	probably damaging	Het
Gpr161	T	C	1: 165,138,077 (GRCm39)	L204P	probably damaging	Het
Hp	A	G	8: 110,302,339 (GRCm39)	V203A	probably damaging	Het
Krtap6-5	A	T	16: 88,844,677 (GRCm39)	C19S	unknown	Het
Lce1i	A	T	3: 92,685,033 (GRCm39)	S48T	unknown	Het
Lrp2	A	T	2: 69,261,496 (GRCm39)	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,337,285 (GRCm39)		probably benign	Het
Or1q1	T	C	2: 36,886,915 (GRCm39)	F31S	probably damaging	Het
Or4c100	T	A	2: 88,356,498 (GRCm39)	Y190*	probably null	Het
Or8k18	T	A	2: 86,085,363 (GRCm39)	I225L	possibly damaging	Het
Papola	G	T	12: 105,775,692 (GRCm39)		probably null	Het
Prss23	T	C	7: 89,159,352 (GRCm39)	D239G	probably damaging	Het
Setd2	A	G	9: 110,382,220 (GRCm39)	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,331,443 (GRCm39)	L56V	probably damaging	Het
Ski	A	G	4: 155,245,329 (GRCm39)	S300P	probably benign	Het
Srebf2	T	C	15: 82,053,989 (GRCm39)	S17P	probably damaging	Het
Svs5	C	A	2: 164,175,260 (GRCm39)	H37Q	probably benign	Het
Tbx21	A	G	11: 97,005,567 (GRCm39)	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,257,568 (GRCm39)	S830R	probably damaging	Het
Thsd1	A	T	8: 22,733,794 (GRCm39)	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,108,513 (GRCm39)	M1L	probably benign	Het
Ttll7	T	C	3: 146,615,408 (GRCm39)	F291L	probably benign	Het
Ttn	A	G	2: 76,599,907 (GRCm39)	V10762A	probably damaging	Het

Other mutations in Erc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Erc2	APN	14	27,762,478 (GRCm39)	missense	probably damaging	0.98
IGL01862:Erc2	APN	14	27,993,526 (GRCm39)	splice site	probably benign
IGL01906:Erc2	APN	14	27,863,263 (GRCm39)	missense	probably damaging	0.99
IGL02177:Erc2	APN	14	27,620,580 (GRCm39)	missense	probably benign	0.00
IGL02481:Erc2	APN	14	27,375,028 (GRCm39)	missense	probably damaging	1.00
IGL02483:Erc2	APN	14	27,375,028 (GRCm39)	missense	probably damaging	1.00
IGL02623:Erc2	APN	14	27,498,937 (GRCm39)	missense	probably damaging	1.00
IGL03252:Erc2	APN	14	28,197,606 (GRCm39)	utr 3 prime	probably benign
lobe	UTSW	14	28,039,208 (GRCm39)	missense	probably damaging	0.96
R0091:Erc2	UTSW	14	27,498,781 (GRCm39)	critical splice acceptor site	probably null
R0309:Erc2	UTSW	14	27,863,182 (GRCm39)	missense	probably damaging	0.98
R0357:Erc2	UTSW	14	27,498,979 (GRCm39)	missense	probably damaging	0.99
R0378:Erc2	UTSW	14	27,733,651 (GRCm39)	missense	probably damaging	1.00
R0550:Erc2	UTSW	14	27,993,608 (GRCm39)	missense	possibly damaging	0.74
R0815:Erc2	UTSW	14	27,747,105 (GRCm39)	missense	probably benign	0.04
R0863:Erc2	UTSW	14	27,747,105 (GRCm39)	missense	probably benign	0.04
R1121:Erc2	UTSW	14	28,197,612 (GRCm39)	utr 3 prime	probably benign
R1164:Erc2	UTSW	14	28,024,929 (GRCm39)	missense	probably damaging	0.99
R1498:Erc2	UTSW	14	28,024,855 (GRCm39)	missense	probably benign	0.27
R1500:Erc2	UTSW	14	27,993,617 (GRCm39)	missense	probably damaging	0.98
R1555:Erc2	UTSW	14	27,733,622 (GRCm39)	missense	probably damaging	0.99
R1894:Erc2	UTSW	14	27,863,185 (GRCm39)	missense	probably damaging	0.99
R1950:Erc2	UTSW	14	27,634,857 (GRCm39)	missense	probably damaging	0.99
R1991:Erc2	UTSW	14	27,733,593 (GRCm39)	missense	probably benign	0.34
R2698:Erc2	UTSW	14	27,993,662 (GRCm39)	missense	probably benign	0.06
R2847:Erc2	UTSW	14	27,762,445 (GRCm39)	missense	probably damaging	0.97
R3015:Erc2	UTSW	14	27,733,732 (GRCm39)	critical splice donor site	probably null
R3612:Erc2	UTSW	14	27,499,134 (GRCm39)	missense	possibly damaging	0.69
R3759:Erc2	UTSW	14	27,747,120 (GRCm39)	missense	possibly damaging	0.94
R3857:Erc2	UTSW	14	28,197,599 (GRCm39)	utr 3 prime	probably benign
R3858:Erc2	UTSW	14	28,197,599 (GRCm39)	utr 3 prime	probably benign
R3859:Erc2	UTSW	14	28,197,599 (GRCm39)	utr 3 prime	probably benign
R4556:Erc2	UTSW	14	28,024,861 (GRCm39)	missense	probably damaging	1.00
R4739:Erc2	UTSW	14	27,498,838 (GRCm39)	missense	probably damaging	1.00
R4898:Erc2	UTSW	14	27,375,285 (GRCm39)	missense	probably damaging	1.00
R5068:Erc2	UTSW	14	28,024,900 (GRCm39)	missense	possibly damaging	0.63
R5113:Erc2	UTSW	14	27,374,829 (GRCm39)	missense	probably benign	0.40
R5418:Erc2	UTSW	14	27,688,467 (GRCm39)	missense	probably benign	0.14
R5741:Erc2	UTSW	14	28,024,826 (GRCm39)	splice site	probably null
R5819:Erc2	UTSW	14	27,863,326 (GRCm39)	missense	probably damaging	0.97
R5930:Erc2	UTSW	14	27,498,815 (GRCm39)	missense	probably damaging	0.99
R6073:Erc2	UTSW	14	27,733,593 (GRCm39)	missense	probably benign	0.00
R6150:Erc2	UTSW	14	27,863,248 (GRCm39)	missense	probably damaging	0.97
R6182:Erc2	UTSW	14	28,039,210 (GRCm39)	missense	probably damaging	0.99
R6188:Erc2	UTSW	14	28,039,208 (GRCm39)	missense	probably damaging	0.96
R6267:Erc2	UTSW	14	27,802,112 (GRCm39)	missense	probably damaging	1.00
R6296:Erc2	UTSW	14	27,802,112 (GRCm39)	missense	probably damaging	1.00
R6730:Erc2	UTSW	14	27,620,524 (GRCm39)	missense	possibly damaging	0.95
R6969:Erc2	UTSW	14	27,620,553 (GRCm39)	missense	probably damaging	1.00
R7095:Erc2	UTSW	14	27,620,550 (GRCm39)	missense	probably damaging	0.99
R7221:Erc2	UTSW	14	27,375,115 (GRCm39)	missense	probably damaging	0.97
R7365:Erc2	UTSW	14	27,762,346 (GRCm39)	missense	probably damaging	1.00
R7454:Erc2	UTSW	14	28,024,948 (GRCm39)	missense	possibly damaging	0.92
R7763:Erc2	UTSW	14	27,598,161 (GRCm39)	critical splice donor site	probably null
R7784:Erc2	UTSW	14	27,620,551 (GRCm39)	missense	probably damaging	0.96
R7890:Erc2	UTSW	14	27,762,298 (GRCm39)	critical splice acceptor site	probably null
R7894:Erc2	UTSW	14	27,499,165 (GRCm39)	missense	probably damaging	1.00
R8031:Erc2	UTSW	14	27,733,649 (GRCm39)	missense	probably damaging	0.99
R8206:Erc2	UTSW	14	28,024,972 (GRCm39)	splice site	probably null
R8273:Erc2	UTSW	14	27,499,096 (GRCm39)	missense	probably benign	0.41
R8304:Erc2	UTSW	14	27,375,122 (GRCm39)	missense	probably damaging	0.99
R8387:Erc2	UTSW	14	27,375,253 (GRCm39)	missense	possibly damaging	0.92
R8751:Erc2	UTSW	14	27,802,145 (GRCm39)	missense	possibly damaging	0.78
R8851:Erc2	UTSW	14	28,039,216 (GRCm39)	missense	probably null	0.99
R9130:Erc2	UTSW	14	27,751,418 (GRCm39)	missense	probably benign	0.25
R9292:Erc2	UTSW	14	27,498,799 (GRCm39)	missense	probably damaging	1.00
R9441:Erc2	UTSW	14	27,802,114 (GRCm39)	missense	possibly damaging	0.58
R9452:Erc2	UTSW	14	27,733,690 (GRCm39)	missense	probably damaging	1.00
R9529:Erc2	UTSW	14	28,197,723 (GRCm39)	missense	unknown

Posted On

2016-08-02