Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Erc2'

578026

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28302991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 939 (H939R)

Ref Sequence

ENSEMBL: ENSMUSP00000087773 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090302
AA Change: H939R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: H939R

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

possibly damaging
Transcript: ENSMUST00000210135
AA Change: H963R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: H609R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211145
AA Change: H943R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,836,851	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,688,304	T159K	unknown	Het
Adamts10	T	A	17: 33,545,005	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,828,315	S26L	unknown	Het
Alpk3	A	C	7: 81,078,562	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919	T529A	unknown	Het
Arl4d	A	G	11: 101,666,660	H4R	probably benign	Het
Ash1l	A	G	3: 88,983,865	H1017R	probably benign	Het
Bbs12	T	C	3: 37,320,953	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,916,208	R616L	possibly damaging	Het
Bean1	G	A	8: 104,211,026	G79D	probably damaging	Het
Bicra	C	G	7: 15,972,134	G1461R	probably benign	Het
Bptf	T	C	11: 107,044,640	T124A	probably benign	Het
Btnl4	A	T	17: 34,472,374	V312E	probably benign	Het
Ccdc7a	A	G	8: 128,944,516	M503T	unknown	Het
Celf5	T	C	10: 81,482,523	E28G	probably damaging	Het
Cilp2	G	A	8: 69,883,390	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,142,452	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,852,570	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,235,059	L857F	probably null	Het
Dnah6	T	A	6: 73,212,492	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,518,764	M2164L	probably benign	Het
Dspp	T	A	5: 104,175,610	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,659,674	V443M	possibly damaging	Het
Fam149a	G	T	8: 45,348,546	H513N	probably benign	Het
Fam171a2	T	C	11: 102,439,717	T280A	possibly damaging	Het
Fam208b	A	G	13: 3,585,332	S492P	probably benign	Het
Fkbp5	A	C	17: 28,416,025	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,777,815		probably benign	Het
Fzd2	T	C	11: 102,605,129	F133S	probably damaging	Het
Galm	A	G	17: 80,138,121	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,598,159	I5N	possibly damaging	Het
Gga2	T	C	7: 122,002,146	R245G	probably benign	Het
Gm10053	A	G	19: 24,875,900	T50A	probably benign	Het
Gm1110	T	C	9: 26,920,649	T69A	probably benign	Het
Gm15922	T	G	7: 3,735,510	E622D	probably benign	Het
Heatr5a	T	C	12: 51,961,543	S6G	probably benign	Het
Hmcn1	A	G	1: 150,563,604	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,260,406	V123A	probably damaging	Het
Itgal	C	A	7: 127,327,764	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,175,154	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,893,944		probably null	Het
Kat6a	A	G	8: 22,935,772	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,389,639	P452T	probably benign	Het
Krit1	T	C	5: 3,812,474	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,419,912	Y56N	unknown	Het
Lig1	A	T	7: 13,288,721	D158V	probably damaging	Het
Lmo1	A	T	7: 109,140,666	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,632,243	L114H	probably damaging	Het
Ltn1	T	C	16: 87,397,812	I1400V	probably benign	Het
Mark3	T	C	12: 111,604,527	I87T	probably damaging	Het
Mfrp	G	T	9: 44,105,183	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,765,135	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,566,926	M1K	probably null	Het
Nme7	T	A	1: 164,380,648	L295*	probably null	Het
Noct	G	T	3: 51,249,730	C163F	probably damaging	Het
Olfr1270	T	A	2: 90,149,419	I196F	possibly damaging	Het
Olfr229	A	G	9: 39,909,904	I34V	probably benign	Het
Olfr541	A	T	7: 140,704,634	I128F	probably damaging	Het
Olfr747	T	A	14: 50,680,824	Q270L	possibly damaging	Het
Olfr772	T	A	10: 129,174,455	T189S	probably damaging	Het
Olfr992	T	A	2: 85,399,611	K307N	probably damaging	Het
Patz1	C	T	11: 3,298,297		probably benign	Het
Per3	A	G	4: 151,012,728	L780P	probably benign	Het
Pla2g4a	T	C	1: 149,872,690	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,741,100	K395R	probably benign	Het
Poc5	G	T	13: 96,400,832	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,324,135	S434P	possibly damaging	Het
Prss42	A	G	9: 110,798,829	N110S	probably benign	Het
Ralgapb	T	A	2: 158,432,902	I241N	possibly damaging	Het
Rbak	A	C	5: 143,173,773	Y508*	probably null	Het
S1pr2	G	T	9: 20,967,549	R328S	possibly damaging	Het
Sap130	T	C	18: 31,650,512	M214T	probably benign	Het
Slc46a1	T	A	11: 78,466,511	V130E	probably damaging	Het
Smc4	A	T	3: 69,018,124	H343L	probably benign	Het
Tarbp1	C	A	8: 126,457,677	R500L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,954,659	S235P	probably benign	Het
Trbc2	G	T	6: 41,546,829	R33M		Het
Trim3	C	T	7: 105,619,558	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,285,484	V2128A	probably benign	Het
Ttn	C	T	2: 76,725,818	R30281H	probably damaging	Het
Ttn	T	A	2: 76,944,139	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,629,425	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,603,307	D322V	probably benign	Het
Wdr38	C	T	2: 38,998,340		probably benign	Het
Xrn1	T	A	9: 96,048,358	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,432,769	T201I	possibly 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
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
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'- TATTGGGCTCATTGTCTCGC -3'
(R):5'- CATTAGATATGACCAAGCACTAAGC -3'

Sequencing Primer
(F):5'- CATTGTCTCGCTCCTGATGG -3'
(R):5'- CACTAAGCTGCATAACTAGGAAAG -3'

Posted On

2019-10-07