Incidental Mutation 'R7095:Erc2'
| ID |
550444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erc2
|
| Ensembl Gene |
ENSMUSG00000040640 |
| Gene Name |
ELKS/RAB6-interacting/CAST family member 2 |
| Synonyms |
D14Ertd171e, ELKS2alpha, CAST |
| MMRRC Submission |
045243-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7095 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
27344385-28200494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27620550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 393
(N393Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090302]
[ENSMUST00000210135]
[ENSMUST00000210924]
[ENSMUST00000211145]
|
| AlphaFold |
Q6PH08 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090302
AA Change: N393Y
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: N393Y
| 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 damaging
Transcript: ENSMUST00000210135
AA Change: N401Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210924
AA Change: N59Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211145
AA Change: N393Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2518 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,268,403 (GRCm39) |
V809A |
possibly damaging |
Het |
| Adam32 |
T |
A |
8: 25,404,086 (GRCm39) |
D242V |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,864,672 (GRCm39) |
H763L |
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,990,951 (GRCm39) |
D967G |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,491,950 (GRCm39) |
L17Q |
possibly damaging |
Het |
| Appbp2 |
G |
T |
11: 85,125,553 (GRCm39) |
S28* |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,952,411 (GRCm39) |
|
probably null |
Het |
| Capn5 |
G |
A |
7: 97,775,038 (GRCm39) |
T534I |
probably benign |
Het |
| Cbx2 |
T |
C |
11: 118,918,885 (GRCm39) |
I150T |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,384,899 (GRCm39) |
V392A |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,373 (GRCm39) |
C803S |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,905 (GRCm39) |
T114A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,121,629 (GRCm39) |
D994E |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,941,652 (GRCm39) |
W584C |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dgkh |
C |
A |
14: 78,865,224 (GRCm39) |
M172I |
probably benign |
Het |
| Dpy19l2 |
T |
G |
9: 24,607,110 (GRCm39) |
H117P |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,748,153 (GRCm39) |
N908K |
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,132,786 (GRCm39) |
E291G |
possibly damaging |
Het |
| Fam193a |
C |
T |
5: 34,615,378 (GRCm39) |
L816F |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,157 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fndc10 |
C |
T |
4: 155,779,574 (GRCm39) |
T206I |
probably damaging |
Het |
| Fzd1 |
GGGACTCCTCCACCTCCCTGGA |
GGGA |
5: 4,805,824 (GRCm39) |
|
probably benign |
Het |
| Gsk3a |
A |
T |
7: 24,933,279 (GRCm39) |
Y177N |
probably damaging |
Het |
| Haus5 |
T |
C |
7: 30,358,997 (GRCm39) |
T222A |
probably benign |
Het |
| Igfbp7 |
G |
T |
5: 77,549,337 (GRCm39) |
Q189K |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,476,663 (GRCm39) |
Y771* |
probably null |
Het |
| Iqck |
A |
T |
7: 118,514,814 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,267,819 (GRCm39) |
C132* |
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,411 (GRCm39) |
V277G |
probably benign |
Het |
| Klhl22 |
G |
A |
16: 17,610,614 (GRCm39) |
V622M |
probably damaging |
Het |
| Kri1 |
C |
T |
9: 21,190,728 (GRCm39) |
E378K |
|
Het |
| Lilra6 |
C |
T |
7: 3,916,196 (GRCm39) |
G221D |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,035,103 (GRCm39) |
E191G |
probably damaging |
Het |
| Mgrn1 |
T |
A |
16: 4,745,528 (GRCm39) |
|
probably null |
Het |
| Mical1 |
C |
T |
10: 41,355,206 (GRCm39) |
|
probably null |
Het |
| Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,301,260 (GRCm39) |
H535L |
|
Het |
| Mtarc1 |
A |
G |
1: 184,527,437 (GRCm39) |
L297P |
probably damaging |
Het |
| Mtfr2 |
C |
A |
10: 20,228,666 (GRCm39) |
H71N |
probably benign |
Het |
| Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,992,272 (GRCm39) |
Q1582R |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,067,635 (GRCm39) |
E6062K |
possibly damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,063,792 (GRCm39) |
A67T |
probably damaging |
Het |
| Noc3l |
T |
A |
19: 38,800,789 (GRCm39) |
H231L |
probably benign |
Het |
| Odf1 |
T |
C |
15: 38,219,803 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Or52e2 |
G |
A |
7: 102,804,537 (GRCm39) |
T139I |
probably damaging |
Het |
| Or52s1b |
C |
T |
7: 102,822,253 (GRCm39) |
R197H |
probably benign |
Het |
| Or5j3 |
C |
T |
2: 86,129,021 (GRCm39) |
P287L |
probably benign |
Het |
| Otol1 |
G |
T |
3: 69,926,027 (GRCm39) |
E67D |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,554 (GRCm39) |
S598G |
probably benign |
Het |
| Ppwd1 |
T |
A |
13: 104,342,134 (GRCm39) |
T607S |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,569,714 (GRCm39) |
N99S |
probably benign |
Het |
| Ralgds |
C |
A |
2: 28,439,320 (GRCm39) |
Q737K |
possibly damaging |
Het |
| Scyl2 |
T |
C |
10: 89,505,549 (GRCm39) |
H98R |
probably damaging |
Het |
| Secisbp2 |
A |
C |
13: 51,831,290 (GRCm39) |
Q575H |
probably benign |
Het |
| Slc9a5 |
A |
T |
8: 106,084,268 (GRCm39) |
H497L |
probably benign |
Het |
| Sufu |
T |
A |
19: 46,464,027 (GRCm39) |
V414E |
probably damaging |
Het |
| Tbc1d22b |
A |
T |
17: 29,818,843 (GRCm39) |
E399V |
probably damaging |
Het |
| Tcp10c |
G |
A |
17: 13,576,196 (GRCm39) |
V59I |
probably benign |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,368 (GRCm39) |
S348P |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,928 (GRCm39) |
F176L |
probably damaging |
Het |
| Trav6-2 |
A |
G |
14: 52,905,291 (GRCm39) |
D104G |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,860,538 (GRCm39) |
K927R |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,221,720 (GRCm39) |
D158E |
probably benign |
Het |
| Xpnpep1 |
C |
T |
19: 53,000,196 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
G |
A |
14: 70,942,146 (GRCm39) |
R73W |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,815,969 (GRCm39) |
M781L |
probably benign |
Het |
| Zfp930 |
T |
A |
8: 69,681,193 (GRCm39) |
I295K |
probably benign |
Het |
|
| Other mutations in Erc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Erc2
|
APN |
14 |
27,762,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01862:Erc2
|
APN |
14 |
27,993,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL01906:Erc2
|
APN |
14 |
27,863,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02177:Erc2
|
APN |
14 |
27,620,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02481:Erc2
|
APN |
14 |
27,375,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Erc2
|
APN |
14 |
27,375,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Erc2
|
APN |
14 |
27,498,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Erc2
|
APN |
14 |
28,197,606 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03378:Erc2
|
APN |
14 |
27,733,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lobe
|
UTSW |
14 |
28,039,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0091:Erc2
|
UTSW |
14 |
27,498,781 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0309:Erc2
|
UTSW |
14 |
27,863,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0357:Erc2
|
UTSW |
14 |
27,498,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0378:Erc2
|
UTSW |
14 |
27,733,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Erc2
|
UTSW |
14 |
27,993,608 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0815:Erc2
|
UTSW |
14 |
27,747,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0863:Erc2
|
UTSW |
14 |
27,747,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1121:Erc2
|
UTSW |
14 |
28,197,612 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1164:Erc2
|
UTSW |
14 |
28,024,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1498:Erc2
|
UTSW |
14 |
28,024,855 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1500:Erc2
|
UTSW |
14 |
27,993,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1555:Erc2
|
UTSW |
14 |
27,733,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1894:Erc2
|
UTSW |
14 |
27,863,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1950:Erc2
|
UTSW |
14 |
27,634,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1991:Erc2
|
UTSW |
14 |
27,733,593 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2698:Erc2
|
UTSW |
14 |
27,993,662 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2847:Erc2
|
UTSW |
14 |
27,762,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3015:Erc2
|
UTSW |
14 |
27,733,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3612:Erc2
|
UTSW |
14 |
27,499,134 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3759:Erc2
|
UTSW |
14 |
27,747,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3857:Erc2
|
UTSW |
14 |
28,197,599 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3858:Erc2
|
UTSW |
14 |
28,197,599 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3859:Erc2
|
UTSW |
14 |
28,197,599 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4556:Erc2
|
UTSW |
14 |
28,024,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Erc2
|
UTSW |
14 |
27,498,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Erc2
|
UTSW |
14 |
27,375,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Erc2
|
UTSW |
14 |
28,024,900 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5113:Erc2
|
UTSW |
14 |
27,374,829 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5418:Erc2
|
UTSW |
14 |
27,688,467 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5741:Erc2
|
UTSW |
14 |
28,024,826 (GRCm39) |
splice site |
probably null |
|
|
R5819:Erc2
|
UTSW |
14 |
27,863,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5930:Erc2
|
UTSW |
14 |
27,498,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6073:Erc2
|
UTSW |
14 |
27,733,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6150:Erc2
|
UTSW |
14 |
27,863,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6182:Erc2
|
UTSW |
14 |
28,039,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6188:Erc2
|
UTSW |
14 |
28,039,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6267:Erc2
|
UTSW |
14 |
27,802,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Erc2
|
UTSW |
14 |
27,802,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Erc2
|
UTSW |
14 |
27,620,524 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6969:Erc2
|
UTSW |
14 |
27,620,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Erc2
|
UTSW |
14 |
27,375,115 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7365:Erc2
|
UTSW |
14 |
27,762,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Erc2
|
UTSW |
14 |
28,024,948 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7763:Erc2
|
UTSW |
14 |
27,598,161 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7784:Erc2
|
UTSW |
14 |
27,620,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7890:Erc2
|
UTSW |
14 |
27,762,298 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7894:Erc2
|
UTSW |
14 |
27,499,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8031:Erc2
|
UTSW |
14 |
27,733,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8206:Erc2
|
UTSW |
14 |
28,024,972 (GRCm39) |
splice site |
probably null |
|
|
R8273:Erc2
|
UTSW |
14 |
27,499,096 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8304:Erc2
|
UTSW |
14 |
27,375,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8387:Erc2
|
UTSW |
14 |
27,375,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8751:Erc2
|
UTSW |
14 |
27,802,145 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8851:Erc2
|
UTSW |
14 |
28,039,216 (GRCm39) |
missense |
probably null |
0.99 |
|
R9130:Erc2
|
UTSW |
14 |
27,751,418 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9292:Erc2
|
UTSW |
14 |
27,498,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Erc2
|
UTSW |
14 |
27,802,114 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9452:Erc2
|
UTSW |
14 |
27,733,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9529:Erc2
|
UTSW |
14 |
28,197,723 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGATCCTGTGACCTGAAAAC -3'
(R):5'- ATGTGGGTCTTTGCAGAAGC -3'
Sequencing Primer
(F):5'- GTGACCTGAAAACACAAACCCTTCTG -3'
(R):5'- GCAGAAGCAAGTAGGTAAACTATAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation