Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Erc2'

375959

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27653328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 168 (L168F)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: L168F

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

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: L168F

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: L168F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210327
AA Change: L168F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211087
AA Change: L168F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: L168F

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,989,687	Y944C	probably damaging	Het
Acacb	T	C	5: 114,232,938	V1747A	probably benign	Het
Acad8	C	T	9: 26,978,402	R332H	probably damaging	Het
Acrbp	A	C	6: 125,050,538	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,755,512	N1500K	probably benign	Het
Arfgef1	A	G	1: 10,159,573	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,951,345	S478G	probably benign	Het
Armh1	T	C	4: 117,237,780	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,408,961	L1045*	probably null	Het
Atp2a3	T	A	11: 72,982,680	L793H	probably damaging	Het
B4galnt4	C	A	7: 141,068,260	P563Q	probably benign	Het
BC027072	A	G	17: 71,751,071	M537T	probably damaging	Het
Bcl2a1b	A	T	9: 89,199,660	K94*	probably null	Het
Bod1	T	A	11: 31,666,853	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,405,959	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588	V1250A	possibly damaging	Het
Car12	T	A	9: 66,764,318	Y332*	probably null	Het
Ccdc186	A	T	19: 56,802,000		probably null	Het
Cdh6	T	C	15: 13,034,688	T629A	probably damaging	Het
Cep112	T	A	11: 108,506,645	D353E	probably damaging	Het
Cep152	T	C	2: 125,586,381	S777G	probably benign	Het
Clec4b2	A	C	6: 123,204,204	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926	Y323H	probably benign	Het
Cnp	G	T	11: 100,576,376	E48D	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,391,023	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,614,941	E703D	probably damaging	Het
Dlg1	T	C	16: 31,857,946	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,413,819	S86G	probably benign	Het
Dock3	A	G	9: 106,930,067	F1354L	probably damaging	Het
Dock3	C	A	9: 106,992,972	V638F	possibly damaging	Het
E130309D02Rik	A	G	5: 143,301,837	S438P	probably benign	Het
Eif3c	A	T	7: 126,557,454	M407K	probably benign	Het
Epha4	T	A	1: 77,390,075	K578*	probably null	Het
Esyt2	A	G	12: 116,342,088	I313V	probably benign	Het
Far1	T	A	7: 113,568,225	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,717,969	N463Y	possibly damaging	Het
Fgg	A	G	3: 83,008,540	D96G	probably benign	Het
Gfer	A	G	17: 24,695,300	S130P	probably damaging	Het
Gm8994	A	T	6: 136,328,739	Q66L	possibly damaging	Het
Hdac10	A	T	15: 89,128,447	M1K	probably null	Het
Hsd3b1	A	T	3: 98,853,326	S110R	probably benign	Het
Itga6	T	C	2: 71,838,373	L552P	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,257,202	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,480,214	Y142F	probably benign	Het
Lyz2	T	A	10: 117,278,709	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,570,023	D76G	probably damaging	Het
Map7d1	T	C	4: 126,233,225	K731E	unknown	Het
Mgam	A	C	6: 40,643,054	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953	E104D	probably benign	Het
Morc2a	C	T	11: 3,676,664	R241*	probably null	Het
Mtfmt	C	A	9: 65,452,104	H354N	probably benign	Het
Myh3	T	C	11: 67,099,407	I1626T	probably benign	Het
Ndst1	A	T	18: 60,691,987	V753D	probably benign	Het
Neurl4	A	G	11: 69,903,171	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,256,897	S568G	probably benign	Het
Olfr1263	T	C	2: 90,015,418	F163L	probably damaging	Het
Olfr1513	G	C	14: 52,349,542	P168R	probably damaging	Het
Olfr315	T	C	11: 58,778,306	Y60H	possibly damaging	Het
Olfr325	T	G	11: 58,581,720	L292R	probably damaging	Het
Olfr593	A	G	7: 103,212,540	I216V	probably damaging	Het
Olfr798	A	T	10: 129,625,599	I154N	probably benign	Het
Olfr901	A	T	9: 38,430,815	M178L	probably benign	Het
Osbpl7	A	G	11: 97,060,150	I608V	probably damaging	Het
Pard3b	T	C	1: 61,768,000	I58T	probably damaging	Het
Pcdhga1	A	C	18: 37,662,354	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,150,624	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,410,416	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,464,042	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,564,125	Y183C	probably damaging	Het
Pole	A	C	5: 110,290,224		probably null	Het
Ppfia1	A	G	7: 144,491,576	L948P	probably damaging	Het
Prdm2	A	T	4: 143,134,191	V843E	probably damaging	Het
Prss56	C	A	1: 87,187,986	F527L	probably damaging	Het
Psmd11	T	C	11: 80,438,320	L88P	probably damaging	Het
Ptx3	G	C	3: 66,224,991	G311A	probably damaging	Het
Rars	A	T	11: 35,808,558	L636H	probably damaging	Het
Rnft2	A	G	5: 118,237,442	S81P	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxra	T	A	2: 27,741,183	I142N	probably damaging	Het
Scin	T	C	12: 40,104,932	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,579,258	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,322,004	I505F	probably benign	Het
Six5	T	C	7: 19,095,171	Y179H	probably damaging	Het
Slc12a4	A	C	8: 105,944,609	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,837,512	L404F	probably damaging	Het
Smn1	T	C	13: 100,132,423	L259P	probably damaging	Het
Sorl1	T	G	9: 42,041,639	D702A	probably damaging	Het
Spta1	A	G	1: 174,237,834	E1983G	possibly damaging	Het
Srsf1	T	A	11: 88,049,962		probably null	Het
Stard9	C	T	2: 120,706,419	R4224*	probably null	Het
Svs1	A	G	6: 48,987,717	T220A	possibly damaging	Het
Sybu	T	G	15: 44,675,499	M383L	probably benign	Het
Tbx15	A	C	3: 99,352,267	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 138,218,057	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616	T474N	possibly damaging	Het
Thada	A	T	17: 84,448,042		probably null	Het
Tnik	A	T	3: 28,650,086	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,695,592	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,268,833	M623T	probably damaging	Het
Trdn	T	A	10: 33,474,417	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,776,192	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,660,240	R644S	probably benign	Het
Ttyh1	A	T	7: 4,133,736	M448L	probably benign	Het
Unc79	G	T	12: 103,161,820	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,626,608	I2110M	probably benign	Het
Uvssa	G	T	5: 33,413,913	E634*	probably null	Het
Vac14	A	C	8: 110,645,808	T384P	probably benign	Het
Wdr11	A	G	7: 129,633,721	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,110,524	T28S	probably benign	Het
Zfp715	A	T	7: 43,299,682	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,770,060	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,602,436	V544M	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
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

Predicted Primers

PCR Primer
(F):5'- GTAGTCCCAACATTGCTTCCG -3'
(R):5'- GAGCCACCTGCAAATCTGAG -3'

Sequencing Primer
(F):5'- TGGACTTTCCCACACGGATG -3'
(R):5'- CCTGCAAATCTGAGAACACTGGG -3'

Posted On

2016-03-17