Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02177:Erc2'

283170

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 #

IGL02177

Quality Score

Status

Chromosome

Chromosomal Location

27344385-28200494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27620580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 69 (M69L)

Ref Sequence

ENSEMBL: ENSMUSP00000147744 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably benign
Transcript: ENSMUST00000090302
AA Change: M403L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: M403L

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 benign
Transcript: ENSMUST00000210135
AA Change: M411L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210924
AA Change: M69L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211145
AA Change: M403L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211636

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,205,323 (GRCm39)	Y24*	probably null	Het
Catsperb	A	G	12: 101,507,721 (GRCm39)	Y496C	probably damaging	Het
Ccdc183	C	T	2: 25,502,095 (GRCm39)	E260K	probably benign	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,386,964 (GRCm39)	N342I	probably benign	Het
Defb43	T	C	14: 63,249,266 (GRCm39)	V3A	probably benign	Het
Dpyd	T	A	3: 118,858,559 (GRCm39)	I591N	possibly damaging	Het
Dpysl5	T	G	5: 30,902,622 (GRCm39)	V18G	probably damaging	Het
Fam184b	G	T	5: 45,690,157 (GRCm39)	Y817*	probably null	Het
Fyb1	G	T	15: 6,688,047 (GRCm39)		probably null	Het
Gpr33	G	T	12: 52,070,863 (GRCm39)	Q59K	probably benign	Het
Heatr3	T	G	8: 88,883,351 (GRCm39)	F278V	probably benign	Het
Hectd1	A	T	12: 51,819,103 (GRCm39)	D1292E	probably damaging	Het
Herc1	A	T	9: 66,341,793 (GRCm39)	M1861L	probably benign	Het
Hspg2	T	A	4: 137,242,627 (GRCm39)	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,318,588 (GRCm39)	R915G	possibly damaging	Het
Jhy	T	C	9: 40,809,553 (GRCm39)	D646G	probably damaging	Het
Lrig1	T	A	6: 94,640,977 (GRCm39)	N76I	possibly damaging	Het
Macc1	A	G	12: 119,429,292 (GRCm39)	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,217,092 (GRCm39)	D401G	probably damaging	Het
Nedd4	T	A	9: 72,654,439 (GRCm39)	S865T	probably damaging	Het
Or9s27	G	A	1: 92,516,479 (GRCm39)	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,136,146 (GRCm39)	D937E	probably benign	Het
Prkcd	T	A	14: 30,327,844 (GRCm39)	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,573,193 (GRCm39)	C280S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scn1b	T	C	7: 30,816,655 (GRCm39)	*219W	probably null	Het
Slain2	T	C	5: 73,072,008 (GRCm39)	V14A	probably benign	Het
Soat1	A	T	1: 156,268,073 (GRCm39)		probably benign	Het
Tbc1d4	T	A	14: 101,692,375 (GRCm39)	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,544,869 (GRCm39)	V2295A	probably benign	Het
Tmem135	A	G	7: 88,987,661 (GRCm39)	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,331,354 (GRCm39)	D168V	probably damaging	Het
Trdn	T	C	10: 33,015,169 (GRCm39)	V41A	probably damaging	Het
Trpc5	G	T	X: 143,264,234 (GRCm39)	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,085,139 (GRCm39)	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,510,274 (GRCm39)	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,227,881 (GRCm39)	I118M	probably benign	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
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
IGL03378:Erc2	APN	14	27,733,680 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16