Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Erc2'

427876

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27966510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 196 (M196V)

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: M530V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: M530V

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: M538V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000210924
AA Change: M196V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000211145
AA Change: M530V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211627

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,326,136	Y227H	probably damaging	Het
4930568D16Rik	A	G	2: 35,354,726	S205P	probably damaging	Het
9530077C05Rik	G	T	9: 22,431,770	R187L	probably damaging	Het
Abcc1	T	C	16: 14,461,132	V1102A	probably benign	Het
Acad8	A	T	9: 26,985,557	M202K	probably damaging	Het
Acoxl	T	A	2: 127,877,802	M161K	probably benign	Het
Adamts4	T	A	1: 171,252,574	V35E	probably damaging	Het
Add2	A	G	6: 86,110,912	S614G	probably benign	Het
Adgrv1	T	A	13: 81,419,308	I5249L	probably benign	Het
Agps	A	G	2: 75,858,904	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,755,602		noncoding transcript	Het
Ankrd24	T	A	10: 81,644,942		probably benign	Het
Bcl9l	A	G	9: 44,505,436	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,649,146	Y232C	probably damaging	Het
Bptf	A	G	11: 107,111,294	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,174,078	V209M	probably benign	Het
Cflar	A	T	1: 58,752,651	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931		probably benign	Het
Crlf2	A	G	5: 109,557,033	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,066,755		probably null	Het
Dmxl2	A	G	9: 54,374,651		probably null	Het
Dnah17	C	A	11: 118,094,984	E1422D	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Efcab11	A	G	12: 99,855,618	L80S	possibly damaging	Het
Emc8	G	A	8: 120,658,603	T130M	probably damaging	Het
Epha6	C	A	16: 60,424,835	A334S	possibly damaging	Het
Etnk2	T	C	1: 133,373,257	I254T	probably damaging	Het
Fam120b	C	T	17: 15,401,799	T13M	probably damaging	Het
Fam234b	A	G	6: 135,226,968	K423E	probably benign	Het
Fcgbp	G	A	7: 28,085,313	G266D	probably damaging	Het
Fndc4	A	T	5: 31,294,634	S146R	probably benign	Het
Frmd3	G	A	4: 74,161,698		probably null	Het
Glrx2	C	A	1: 143,739,708	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,588,934		noncoding transcript	Het
Hc	C	T	2: 35,008,183		probably null	Het
Herc2	T	C	7: 56,137,565	C1695R	probably damaging	Het
Hic1	A	G	11: 75,166,599		probably null	Het
Igkv4-92	A	T	6: 68,755,580	V5E	possibly damaging	Het
Irs1	G	A	1: 82,288,770	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,284	Y143*	probably null	Het
Klb	A	G	5: 65,383,470	N969D	probably benign	Het
Klra6	T	A	6: 130,013,430	L239F	probably damaging	Het
Lhx6	A	G	2: 36,087,366		probably null	Het
Lrrc34	G	A	3: 30,642,774	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,743,817	K321*	probably null	Het
Mapk14	T	C	17: 28,741,843	V196A	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,269,959	L711P	probably damaging	Het
Mylk	T	C	16: 34,912,230	S627P	probably benign	Het
Nbea	A	T	3: 55,645,989	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,648,039	V153A	probably damaging	Het
Olfr1252	T	C	2: 89,721,999	I37M	probably benign	Het
Pax6	A	T	2: 105,691,565	D175V	probably benign	Het
Piezo1	A	G	8: 122,486,780	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,310,162	V404A	probably benign	Het
Plxnb2	A	G	15: 89,166,491	Y421H	probably benign	Het
Prkdc	T	G	16: 15,795,097	V3173G	probably benign	Het
Prss40	A	T	1: 34,560,759	I49N	probably benign	Het
Prx	T	A	7: 27,517,274	V400E	probably damaging	Het
Rbm11	A	C	16: 75,596,535	T40P	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Sema3f	A	G	9: 107,692,621	Y70H	probably damaging	Het
Senp6	G	A	9: 80,121,869	E505K	possibly damaging	Het
Slc25a3	T	C	10: 91,119,536	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280	S572T	probably benign	Het
Smarcal1	C	T	1: 72,598,909	P501S	probably benign	Het
Sox7	C	T	14: 63,947,947	T144M	probably benign	Het
Taar1	T	C	10: 23,921,316	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,427,683	F46L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tpcn2	C	T	7: 145,278,781	E113K	probably damaging	Het
Vmn1r232	T	A	17: 20,914,116	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,694,153	T660I	probably damaging	Het
Zdhhc3	A	G	9: 123,080,391	M234T	probably damaging	Het
Zfp960	T	A	17: 17,087,543	L173H	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
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'- ATTGCACTCTGCTCAGGTG -3'
(R):5'- CCCACAGGCTTAAGTTTTAGATTTGC -3'

Sequencing Primer
(F):5'- ACACAGAACAGCACTGATTATTG -3'
(R):5'- GGCCACATTAAAAATAATTTCCAACG -3'

Posted On

2016-09-01