Mutagenetix > Incidental Mutation

Incidental Mutation 'R9130:Erc2'

693575

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9130 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28029461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 705 (Y705H)

Ref Sequence

ENSEMBL: ENSMUSP00000147981 (fasta)

Gene Model

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

AlphaFold

Q6PH08

Predicted Effect

probably benign
Transcript: ENSMUST00000090302

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

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: Y705H

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000210924

Predicted Effect

probably benign
Transcript: ENSMUST00000211145

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (87/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,451,927	C585R	possibly damaging	Het
Acaca	T	C	11: 84,311,319	L1380S	probably damaging	Het
Aifm2	A	C	10: 61,727,726	Q125P	probably null	Het
Ak5	A	T	3: 152,472,932	L482*	probably null	Het
Aldh3a2	T	C	11: 61,248,932	Q458R	probably benign	Het
Ank2	G	A	3: 127,016,916	T524I		Het
Apoc3	A	T	9: 46,235,183	S25T	unknown	Het
Ash1l	A	T	3: 89,058,541	R2417*	probably null	Het
Bbs12	A	G	3: 37,319,056		probably benign	Het
Birc6	T	A	17: 74,612,151	I1992N		Het
Brd9	G	A	13: 73,944,787	V299M	probably damaging	Het
Brwd1	A	T	16: 96,064,930	N217K	probably damaging	Het
C3	T	C	17: 57,211,678	Y1235C	probably damaging	Het
Cacna1c	T	C	6: 118,613,946	Y1538C		Het
Ccdc172	T	A	19: 58,537,347	H212Q	possibly damaging	Het
Cdc6	A	G	11: 98,912,173	D313G	probably damaging	Het
Cyp2e1	T	C	7: 140,773,109	V353A	probably damaging	Het
Dlg2	G	T	7: 92,431,050	V711F	probably damaging	Het
Dmac2	T	C	7: 25,621,023	F49S	probably damaging	Het
Dnah7b	A	G	1: 46,134,514	K660E	probably benign	Het
Dusp8	A	T	7: 142,088,418	S106T	probably benign	Het
Dynll1	T	A	5: 115,300,545	I34F	probably benign	Het
Epb41l4b	A	G	4: 57,103,447	F130L	possibly damaging	Het
Exosc8	T	A	3: 54,731,082	L160F	probably damaging	Het
F5	A	G	1: 164,174,261	T178A	probably benign	Het
F7	C	A	8: 13,035,059	P362T	probably damaging	Het
Fkbp3	T	C	12: 65,065,793	K156E	possibly damaging	Het
Folh1	G	A	7: 86,719,705	T738I	probably benign	Het
Gatad2b	C	T	3: 90,348,629	A134V	probably benign	Het
Glud1	T	A	14: 34,335,392	W338R		Het
Gm21149	T	C	5: 15,475,263	K62E	possibly damaging	Het
Gm32742	A	G	9: 51,138,749	Y1517H	probably damaging	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Gse1	A	T	8: 120,568,313	E391V	unknown	Het
Gxylt2	C	T	6: 100,733,368	Q157*	probably null	Het
Hbq1b	C	T	11: 32,287,092	T27I	probably damaging	Het
Hoxd13	T	A	2: 74,669,038	D243E	probably benign	Het
Hsd3b3	T	A	3: 98,743,895	I80F	possibly damaging	Het
Hsf2bp	A	T	17: 32,011,108		probably benign	Het
Itch	G	A	2: 155,210,125		probably benign	Het
Kat14	T	C	2: 144,373,822	F76L	probably benign	Het
Kdm6b	T	C	11: 69,404,598	T948A	unknown	Het
Kmt2c	A	T	5: 25,311,104	H2580Q	probably benign	Het
Lrp1	T	C	10: 127,546,412	T3727A	probably benign	Het
Lrrc8a	A	G	2: 30,257,030	I619V	possibly damaging	Het
Mansc1	C	A	6: 134,609,988	G409W	probably damaging	Het
Map3k11	C	A	19: 5,696,010	L418I	possibly damaging	Het
Mettl4	T	A	17: 94,735,485	I308L	possibly damaging	Het
Myo9a	A	G	9: 59,832,231	D742G	probably damaging	Het
Mypn	T	C	10: 63,192,873	Q137R	probably benign	Het
Neurod4	A	T	10: 130,270,558	Y282*	probably null	Het
Nup210	A	G	6: 91,043,817	F965S	probably benign	Het
Olfr1031	T	G	2: 85,992,475	Y219*	probably null	Het
Olfr1271	A	G	2: 90,266,014	C139R	probably damaging	Het
Olfr374	G	T	8: 72,109,853	G96C	probably damaging	Het
Olfr780	A	G	10: 129,322,028	N135S	probably benign	Het
Oplah	T	C	15: 76,300,898	T872A	possibly damaging	Het
Pkn2	A	T	3: 142,809,484	D696E	possibly damaging	Het
Pla2r1	A	T	2: 60,495,385		probably benign	Het
Plpp1	A	T	13: 112,851,504	I54L		Het
Ppp4r2	T	G	6: 100,865,152	N191K	probably damaging	Het
Ptpdc1	G	T	13: 48,586,179	P592Q	probably benign	Het
Qrich2	A	T	11: 116,456,866	L1044*	probably null	Het
Rb1cc1	A	G	1: 6,244,885	I421V	probably damaging	Het
Ripor3	A	T	2: 167,981,347	C881*	probably null	Het
Rreb1	T	C	13: 37,930,306	F547S	probably benign	Het
Scel	T	C	14: 103,533,310	V60A	probably benign	Het
Shank3	G	A	15: 89,558,216	A1771T	probably benign	Het
Slc6a20a	A	G	9: 123,640,566		probably null	Het
Slfn5	C	T	11: 82,960,620	T581I	probably damaging	Het
Ssh3	A	C	19: 4,264,085	V412G	probably damaging	Het
Stx17	T	G	4: 48,159,071		probably benign	Het
Sun3	T	G	11: 9,018,170	T274P	probably benign	Het
Tm9sf1	T	C	14: 55,638,007	T427A	probably damaging	Het
Tmem114	T	A	16: 8,412,119	I140F		Het
Tmem40	T	C	6: 115,734,019	R167G	possibly damaging	Het
Top3a	C	A	11: 60,750,575		probably null	Het
Trafd1	A	G	5: 121,378,510	V210A	probably benign	Het
Trim66	T	C	7: 109,477,689	I348V	possibly damaging	Het
Ttn	G	A	2: 76,848,828	A10850V	unknown	Het
Unc80	G	A	1: 66,638,085	A2058T	possibly damaging	Het
Upp2	T	C	2: 58,778,008	Y238H	probably damaging	Het
Vmn1r224	T	A	17: 20,419,980	I273N	probably damaging	Het
Vps13c	T	C	9: 67,929,523	S1768P	probably damaging	Het
Zfp26	G	A	9: 20,437,427	H614Y	probably damaging	Het
Zfp263	C	T	16: 3,749,837	T672I	probably benign	Het
Zfp641	T	A	15: 98,288,851	Q297L	probably benign	Het
Zfp944	T	C	17: 22,341,050	E25G	probably damaging	Het
Zfp994	T	C	17: 22,200,000	E656G	unknown	Het
Zfyve19	A	G	2: 119,214,849	D206G	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
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
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'- GCCTTTCACTTTCACTGTGGAATG -3'
(R):5'- AAATGGCATCGGCTTTGCG -3'

Sequencing Primer
(F):5'- AAAACTGAAATTTCTCCTTCTTCTCC -3'
(R):5'- CGCAGATCATTCCTTTTGGCAGAG -3'

Posted On

2022-01-20