Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Erc2'

169214

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

039551-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1500 (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 28271660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 883 (T883A)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000090302
AA Change: T879A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: T879A

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: ENSMUST00000209800

Predicted Effect

probably damaging
Transcript: ENSMUST00000210135
AA Change: T903A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210924
AA Change: T549A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: T883A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	A	11: 78,284,132	Q1698K	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcg1	A	G	17: 31,111,279	D518G	probably benign	Het
Acaca	T	A	11: 84,293,984	D96E	probably benign	Het
Actbl2	G	A	13: 111,255,320	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,312,881	H266Q	probably damaging	Het
Aff4	T	C	11: 53,372,378	V75A	probably benign	Het
Ank2	A	G	3: 126,932,982	S888P	probably benign	Het
Ano7	T	C	1: 93,397,328	F534S	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Bcam	T	A	7: 19,758,964	D484V	possibly damaging	Het
Ccdc88a	T	C	11: 29,482,713	Y1240H	probably benign	Het
Cfh	T	C	1: 140,100,876	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,582,805	A478V	probably benign	Het
Dnah1	T	C	14: 31,316,758	D122G	probably benign	Het
Dnah11	A	T	12: 118,012,829		probably null	Het
Dnah17	T	C	11: 118,101,053	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,408,379		noncoding transcript	Het
Ece2	T	C	16: 20,644,242	L639P	probably damaging	Het
Epha3	A	T	16: 63,595,662	V658E	probably benign	Het
Erbb2	C	T	11: 98,428,978	T632I	probably damaging	Het
Extl2	T	C	3: 116,027,140	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065	M234I	probably benign	Het
Ggt7	A	G	2: 155,499,046	S400P	probably benign	Het
Gldc	A	C	19: 30,113,825	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,991,233	Q3P	probably benign	Het
H2-D1	G	A	17: 35,263,588	E95K	probably benign	Het
Ikzf3	T	C	11: 98,518,695	E14G	probably benign	Het
Jag1	A	T	2: 137,115,638	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,928,786	D14G	possibly damaging	Het
Krt84	A	G	15: 101,530,224	V276A	probably damaging	Het
Lamb1	T	C	12: 31,298,949	I660T	possibly damaging	Het
Lcmt2	A	T	2: 121,140,007	S198R	probably benign	Het
Lcn6	G	A	2: 25,677,119	R44H	probably benign	Het
Lrfn5	A	T	12: 61,839,741	H105L	probably damaging	Het
Lrit1	G	A	14: 37,062,134	R473K	probably benign	Het
March1	A	G	8: 66,468,390	T495A	probably damaging	Het
Marveld3	T	G	8: 109,948,542		probably null	Het
Mbd3	T	C	10: 80,394,586	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,347,725	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,183,861	T105P	probably damaging	Het
Mtbp	T	C	15: 55,617,555	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,210,501		probably benign	Het
Myo1g	T	A	11: 6,520,811	Y15F	probably benign	Het
Nae1	A	T	8: 104,523,584	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,567,891	S715G	probably benign	Het
Olfr1193	T	A	2: 88,677,875	S7T	possibly damaging	Het
Olfr338	A	T	2: 36,377,621	M282L	probably benign	Het
Olfr699	T	C	7: 106,790,821	Y60C	probably damaging	Het
Olfr844	A	T	9: 19,319,316	S267C	probably damaging	Het
Olfr972	G	T	9: 39,873,411	M45I	probably benign	Het
Pex5l	T	C	3: 33,014,980	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,576,679	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,545,494	V2459A	probably damaging	Het
Prb1	T	A	6: 132,207,476	Q398L	unknown	Het
Prkab2	T	C	3: 97,663,947	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,121,706		probably benign	Het
Ptdss1	G	A	13: 66,995,408	G435D	probably benign	Het
Qrfpr	A	G	3: 36,182,580	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,125,442	W163*	probably null	Het
Rgs5	A	G	1: 169,690,414		probably null	Het
Rnf19b	T	C	4: 129,078,961	L255P	probably damaging	Het
Rp9	A	C	9: 22,457,455	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,145,488	S686I	probably damaging	Het
Spp2	C	A	1: 88,412,293	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,479,896	S55R	probably damaging	Het
Tacc3	T	C	5: 33,661,308	L29P	probably damaging	Het
Tex15	A	G	8: 33,575,092	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,872,725	M59V	probably benign	Het
Ttn	G	T	2: 76,745,528	A25007E	probably damaging	Het
Ubr2	T	C	17: 46,986,689	T253A	possibly damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Usp38	A	G	8: 80,995,770	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,845,501	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,256,980	V390M	probably benign	Het
Vmp1	A	G	11: 86,661,200	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,794,030	M450T	probably benign	Het
Ylpm1	T	C	12: 85,014,996	V557A	unknown	Het
Zpld1	T	C	16: 55,233,572	N286D	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
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
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'- AAACCCTCTCTCAGATGGCACAATG -3'
(R):5'- CATGGTATTTCAGCAACAGCGCAG -3'

Sequencing Primer
(F):5'- GAGTCTTAATGAGTCTGACCCAGC -3'
(R):5'- CAGGCTGTTTGGCTCCTAC -3'

Posted On

2014-04-13