Incidental Mutation 'RF009:Shank2'
| ID |
603055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shank2
|
| Ensembl Gene |
ENSMUSG00000037541 |
| Gene Name |
SH3 and multiple ankyrin repeat domains 2 |
| Synonyms |
ProSAP1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143555665-143978231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143965308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 972
(A972E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097929]
[ENSMUST00000105900]
[ENSMUST00000105902]
[ENSMUST00000146006]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097929
AA Change: A965E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095542
Gene: ENSMUSG00000037541
AA Change: A965E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
46 |
131 |
1.75e-14 |
SMART |
|
low complexity region
|
135 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
937 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
967 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1149 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1187 |
N/A |
INTRINSIC |
|
SAM
|
1196 |
1262 |
2.52e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105900
AA Change: A1182E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541
AA Change: A1182E
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
150 |
205 |
1.04e-14 |
SMART |
|
PDZ
|
256 |
341 |
1.75e-14 |
SMART |
|
low complexity region
|
345 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
|
low complexity region
|
1125 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1301 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1383 |
1397 |
N/A |
INTRINSIC |
|
SAM
|
1406 |
1472 |
2.52e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105902
AA Change: A1551E
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: A1551E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:FERM_f0
|
57 |
140 |
1.4e-21 |
PFAM |
|
ANK
|
196 |
226 |
1.4e1 |
SMART |
|
ANK
|
230 |
259 |
2.77e-3 |
SMART |
|
ANK
|
263 |
293 |
1.42e0 |
SMART |
|
ANK
|
297 |
326 |
1.25e-1 |
SMART |
|
ANK
|
330 |
359 |
7.83e-3 |
SMART |
|
ANK
|
363 |
391 |
1.29e2 |
SMART |
|
SH3
|
529 |
584 |
1.04e-14 |
SMART |
|
PDZ
|
635 |
720 |
1.75e-14 |
SMART |
|
low complexity region
|
724 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1198 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1393 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1462 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1530 |
1546 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1576 |
N/A |
INTRINSIC |
|
low complexity region
|
1656 |
1670 |
N/A |
INTRINSIC |
|
low complexity region
|
1713 |
1728 |
N/A |
INTRINSIC |
|
low complexity region
|
1752 |
1766 |
N/A |
INTRINSIC |
|
SAM
|
1775 |
1841 |
2.52e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146006
AA Change: A972E
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
ACACACACCCGC |
AC |
4: 136,189,661 (GRCm39) |
|
probably null |
Het |
| AI182371 |
A |
G |
2: 34,979,209 (GRCm39) |
V153A |
possibly damaging |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
| Apoc2 |
C |
T |
7: 19,405,767 (GRCm39) |
M71I |
probably benign |
Het |
| Arhgap17 |
CTGTTGTTG |
CTGTTG |
7: 122,886,085 (GRCm39) |
|
probably benign |
Het |
| Atrn |
C |
A |
2: 130,748,842 (GRCm39) |
T121K |
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,674,841 (GRCm39) |
D207G |
probably benign |
Het |
| Ccdc170 |
C |
CCAG |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
GCA |
G |
7: 105,083,893 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
T |
C |
13: 17,978,329 (GRCm39) |
D303G |
unknown |
Het |
| Cfap65 |
C |
A |
1: 74,944,806 (GRCm39) |
R1477L |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,169,410 (GRCm39) |
S37P |
possibly damaging |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,176,127 (GRCm39) |
I259V |
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,862,453 (GRCm39) |
N275K |
possibly damaging |
Het |
| Dmxl1 |
A |
C |
18: 50,026,461 (GRCm39) |
R1856S |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,204,165 (GRCm39) |
V14A |
probably benign |
Het |
| Edc4 |
G |
A |
8: 106,615,812 (GRCm39) |
S729N |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,751,012 (GRCm39) |
S246G |
probably benign |
Het |
| Epc2 |
T |
G |
2: 49,422,249 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,560,068 (GRCm39) |
F101I |
probably benign |
Het |
| Fam171b |
GCAGCA |
GCAGCACCAGCA |
2: 83,643,224 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT |
17: 23,981,135 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCCTC |
X: 74,043,598 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,630 (GRCm39) |
|
probably null |
Het |
| Gabpa |
C |
A |
16: 84,641,224 (GRCm39) |
Q93K |
probably benign |
Het |
| Gabre |
GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC |
GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC |
X: 71,314,318 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCA |
GGCTCAAGCTCA |
X: 71,314,319 (GRCm39) |
|
probably benign |
Het |
| H2-T3 |
TCCCGAAGAAC |
TC |
17: 36,500,294 (GRCm39) |
|
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,047,859 (GRCm39) |
D138G |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,556,558 (GRCm39) |
P727S |
probably benign |
Het |
| Ifna13 |
T |
A |
4: 88,562,145 (GRCm39) |
S160C |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Klri2 |
GGAG |
GG |
6: 129,710,737 (GRCm39) |
|
probably null |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,635,805 (GRCm39) |
|
probably null |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
| Map1a |
GCTCCAGC |
GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,669,100 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,516,968 (GRCm39) |
D37G |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,433 (GRCm39) |
V219E |
probably damaging |
Het |
| Myh3 |
TTACG |
TTACGTACG |
11: 66,977,183 (GRCm39) |
|
probably null |
Het |
| Myh3 |
GATTA |
GATTAATTA |
11: 66,977,181 (GRCm39) |
|
probably null |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
| Myo5b |
T |
A |
18: 74,777,070 (GRCm39) |
C377S |
probably damaging |
Het |
| Nefh |
ACTTGGCCTCAGCTGGGG |
ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,342,684 (GRCm39) |
|
probably null |
Het |
| Oog2 |
T |
C |
4: 143,921,855 (GRCm39) |
V255A |
probably benign |
Het |
| Or5ac15 |
T |
A |
16: 58,940,274 (GRCm39) |
H53L |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,959,043 (GRCm39) |
H175L |
probably damaging |
Het |
| Pdgfd |
C |
A |
9: 6,288,624 (GRCm39) |
L93M |
probably damaging |
Het |
| Pgls |
G |
T |
8: 72,045,107 (GRCm39) |
V83L |
probably damaging |
Het |
| Pigw |
C |
A |
11: 84,767,987 (GRCm39) |
Q447H |
probably damaging |
Het |
| Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
C |
A |
9: 106,172,417 (GRCm39) |
L253M |
possibly damaging |
Het |
| Ppl |
T |
A |
16: 4,915,795 (GRCm39) |
E589D |
probably benign |
Het |
| Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
| Prx |
T |
C |
7: 27,218,385 (GRCm39) |
F1101S |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,736,598 (GRCm39) |
V26A |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,387,371 (GRCm39) |
L923Q |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,379,779 (GRCm39) |
P1198L |
probably damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,858 (GRCm39) |
L302P |
probably damaging |
Het |
| Slc29a3 |
C |
T |
10: 60,586,340 (GRCm39) |
G42D |
probably benign |
Het |
| Spart |
T |
C |
3: 55,035,027 (GRCm39) |
V471A |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,436,919 (GRCm39) |
Y1284* |
probably null |
Het |
| Supt20 |
AGCAGC |
AGCAGCCGCAGC |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GCA |
GCACCA |
18: 60,968,815 (GRCm39) |
|
probably benign |
Het |
| Tff1 |
CTTCCTG |
C |
17: 31,383,901 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
9: 45,239,762 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,081 (GRCm39) |
W341R |
probably damaging |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,136 (GRCm39) |
|
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,207 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,375,777 (GRCm39) |
I452F |
possibly damaging |
Het |
| Uimc1 |
T |
C |
13: 55,198,598 (GRCm39) |
E526G |
possibly damaging |
Het |
| Ulbp1 |
T |
A |
10: 7,397,405 (GRCm39) |
K233N |
unknown |
Het |
| Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
| Utrn |
T |
TGTTACCC |
10: 12,509,689 (GRCm39) |
|
probably null |
Het |
| Vmn1r9 |
C |
T |
6: 57,048,465 (GRCm39) |
S180L |
probably benign |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,367 (GRCm39) |
|
probably null |
Het |
| Zfp598 |
CACC |
CACCCCTACC |
17: 24,899,761 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Shank2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Shank2
|
APN |
7 |
143,965,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00516:Shank2
|
APN |
7 |
143,964,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL00919:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01450:Shank2
|
APN |
7 |
143,838,805 (GRCm39) |
nonsense |
probably null |
|
|
IGL01996:Shank2
|
APN |
7 |
143,965,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Shank2
|
APN |
7 |
143,838,784 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02314:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02320:Shank2
|
APN |
7 |
143,974,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Shank2
|
APN |
7 |
143,963,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02997:Shank2
|
APN |
7 |
143,635,610 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0077:Shank2
|
UTSW |
7 |
143,746,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0109:Shank2
|
UTSW |
7 |
143,964,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0126:Shank2
|
UTSW |
7 |
143,585,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0153:Shank2
|
UTSW |
7 |
143,623,872 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0644:Shank2
|
UTSW |
7 |
143,965,586 (GRCm39) |
missense |
probably benign |
|
|
R1072:Shank2
|
UTSW |
7 |
143,965,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Shank2
|
UTSW |
7 |
143,965,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1424:Shank2
|
UTSW |
7 |
143,606,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1712:Shank2
|
UTSW |
7 |
143,964,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Shank2
|
UTSW |
7 |
143,733,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Shank2
|
UTSW |
7 |
143,964,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Shank2
|
UTSW |
7 |
143,740,595 (GRCm39) |
nonsense |
probably null |
|
|
R2074:Shank2
|
UTSW |
7 |
143,963,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Shank2
|
UTSW |
7 |
143,964,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2355:Shank2
|
UTSW |
7 |
143,611,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2511:Shank2
|
UTSW |
7 |
143,965,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Shank2
|
UTSW |
7 |
143,606,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2570:Shank2
|
UTSW |
7 |
143,622,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Shank2
|
UTSW |
7 |
143,623,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Shank2
|
UTSW |
7 |
143,635,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3881:Shank2
|
UTSW |
7 |
143,959,121 (GRCm39) |
missense |
probably benign |
|
|
R3907:Shank2
|
UTSW |
7 |
143,963,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Shank2
|
UTSW |
7 |
143,682,112 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4151:Shank2
|
UTSW |
7 |
143,608,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Shank2
|
UTSW |
7 |
143,733,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4372:Shank2
|
UTSW |
7 |
143,964,599 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4519:Shank2
|
UTSW |
7 |
143,963,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Shank2
|
UTSW |
7 |
143,965,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Shank2
|
UTSW |
7 |
143,964,159 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4647:Shank2
|
UTSW |
7 |
143,965,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Shank2
|
UTSW |
7 |
143,974,342 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4751:Shank2
|
UTSW |
7 |
143,963,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Shank2
|
UTSW |
7 |
143,606,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4929:Shank2
|
UTSW |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5009:Shank2
|
UTSW |
7 |
143,623,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Shank2
|
UTSW |
7 |
143,812,842 (GRCm39) |
nonsense |
probably null |
|
|
R5165:Shank2
|
UTSW |
7 |
143,963,373 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5278:Shank2
|
UTSW |
7 |
143,622,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5332:Shank2
|
UTSW |
7 |
143,965,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5497:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Shank2
|
UTSW |
7 |
143,623,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Shank2
|
UTSW |
7 |
143,963,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5948:Shank2
|
UTSW |
7 |
143,960,960 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6024:Shank2
|
UTSW |
7 |
143,733,768 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6306:Shank2
|
UTSW |
7 |
143,963,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6317:Shank2
|
UTSW |
7 |
143,838,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6358:Shank2
|
UTSW |
7 |
143,585,034 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6364:Shank2
|
UTSW |
7 |
143,964,146 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6413:Shank2
|
UTSW |
7 |
143,963,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6680:Shank2
|
UTSW |
7 |
143,974,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Shank2
|
UTSW |
7 |
143,963,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Shank2
|
UTSW |
7 |
143,606,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6933:Shank2
|
UTSW |
7 |
143,645,515 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6983:Shank2
|
UTSW |
7 |
143,635,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7082:Shank2
|
UTSW |
7 |
143,964,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Shank2
|
UTSW |
7 |
143,964,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7111:Shank2
|
UTSW |
7 |
143,965,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7213:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7225:Shank2
|
UTSW |
7 |
143,838,762 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7325:Shank2
|
UTSW |
7 |
143,965,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7605:Shank2
|
UTSW |
7 |
143,645,516 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7909:Shank2
|
UTSW |
7 |
143,965,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Shank2
|
UTSW |
7 |
143,964,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8118:Shank2
|
UTSW |
7 |
143,963,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8722:Shank2
|
UTSW |
7 |
143,729,485 (GRCm39) |
intron |
probably benign |
|
|
R8866:Shank2
|
UTSW |
7 |
143,964,986 (GRCm39) |
missense |
probably benign |
|
|
R8919:Shank2
|
UTSW |
7 |
143,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Shank2
|
UTSW |
7 |
143,623,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9033:Shank2
|
UTSW |
7 |
143,965,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9091:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9252:Shank2
|
UTSW |
7 |
143,622,535 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9270:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9350:Shank2
|
UTSW |
7 |
143,960,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9362:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Shank2
|
UTSW |
7 |
143,964,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9524:Shank2
|
UTSW |
7 |
143,964,183 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9557:Shank2
|
UTSW |
7 |
143,963,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Shank2
|
UTSW |
7 |
143,585,041 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9574:Shank2
|
UTSW |
7 |
143,622,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9680:Shank2
|
UTSW |
7 |
143,964,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9720:Shank2
|
UTSW |
7 |
143,682,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Shank2
|
UTSW |
7 |
143,682,114 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGTTTCGATGCAGTCACCG -3'
(R):5'- CCTGAGAGAATTGGGCTTTTGAC -3'
Sequencing Primer
(F):5'- TTCGATGCAGTCACCGACTCG -3'
(R):5'- TGACCTCTGGAACGTCACC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation