Incidental Mutation 'R7094:Pcdh17'
| ID |
550380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh17
|
| Ensembl Gene |
ENSMUSG00000035566 |
| Gene Name |
protocadherin 17 |
| Synonyms |
C030033F14Rik, LOC219228 |
| MMRRC Submission |
045187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84684835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 434
(D434G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071370
AA Change: D434G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: D434G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CA
|
54 |
131 |
6.8e-4 |
SMART |
|
CA
|
155 |
242 |
8.81e-21 |
SMART |
|
CA
|
266 |
350 |
8.27e-26 |
SMART |
|
CA
|
375 |
468 |
9.14e-28 |
SMART |
|
CA
|
492 |
579 |
8.4e-27 |
SMART |
|
CA
|
608 |
687 |
2.53e-12 |
SMART |
|
low complexity region
|
703 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
759 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic transmission, increased synaptic vesicle number and decreased depression-related behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,610 (GRCm39) |
I2786F |
probably damaging |
Het |
| Actl6a |
A |
T |
3: 32,760,487 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
G |
13: 12,324,543 (GRCm39) |
V100A |
probably damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,187 (GRCm39) |
A613E |
probably damaging |
Het |
| Atf6b |
G |
A |
17: 34,872,790 (GRCm39) |
|
probably null |
Het |
| Bub1 |
T |
A |
2: 127,663,681 (GRCm39) |
E240V |
probably null |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,871,797 (GRCm39) |
R829L |
possibly damaging |
Het |
| Ccdc85c |
GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC |
GCCGCCGCCGCCAGCGCC |
12: 108,240,877 (GRCm39) |
|
probably null |
Het |
| Cd209g |
T |
C |
8: 4,186,790 (GRCm39) |
F112L |
possibly damaging |
Het |
| Cebpe |
C |
T |
14: 54,948,060 (GRCm39) |
R261H |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,436 (GRCm39) |
E68G |
|
Het |
| Chd9 |
A |
G |
8: 91,716,189 (GRCm39) |
N921S |
unknown |
Het |
| Chil6 |
T |
C |
3: 106,311,486 (GRCm39) |
N98S |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,761,333 (GRCm39) |
K734E |
probably benign |
Het |
| Cracd |
C |
T |
5: 77,006,879 (GRCm39) |
P1080L |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,507 (GRCm39) |
F204S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,482 (GRCm39) |
T4418A |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,077,184 (GRCm39) |
V649A |
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,683 (GRCm39) |
V270M |
possibly damaging |
Het |
| Eva1a |
C |
T |
6: 82,069,024 (GRCm39) |
T117I |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,023 (GRCm39) |
G972D |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,138 (GRCm39) |
N39K |
probably damaging |
Het |
| Gm5565 |
T |
C |
5: 146,095,084 (GRCm39) |
T221A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,215,366 (GRCm39) |
V29G |
possibly damaging |
Het |
| Grem2 |
T |
C |
1: 174,664,555 (GRCm39) |
Y98C |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,012 (GRCm39) |
I506N |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,545,017 (GRCm39) |
Y195F |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,576,098 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,288,650 (GRCm39) |
L832P |
probably damaging |
Het |
| Lipo5 |
T |
A |
19: 33,446,249 (GRCm39) |
E49D |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,414,126 (GRCm39) |
Y767* |
probably null |
Het |
| Map2 |
G |
T |
1: 66,451,886 (GRCm39) |
E259* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,496,253 (GRCm39) |
D310G |
probably damaging |
Het |
| Mink1 |
C |
A |
11: 70,500,901 (GRCm39) |
|
probably null |
Het |
| Mtrr |
T |
C |
13: 68,727,803 (GRCm39) |
T48A |
possibly damaging |
Het |
| Nrsn1 |
A |
T |
13: 25,437,724 (GRCm39) |
I68N |
possibly damaging |
Het |
| Or1ab2 |
A |
T |
8: 72,863,347 (GRCm39) |
|
probably benign |
Het |
| Or4a71 |
A |
T |
2: 89,357,902 (GRCm39) |
I284K |
probably damaging |
Het |
| Or51f23b |
A |
G |
7: 102,402,305 (GRCm39) |
M277T |
probably benign |
Het |
| Or5p60 |
G |
T |
7: 107,723,840 (GRCm39) |
T210N |
probably benign |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,672 (GRCm39) |
N81S |
unknown |
Het |
| Rnf213 |
T |
A |
11: 119,328,430 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,552,096 (GRCm39) |
E121G |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,863,118 (GRCm39) |
S24G |
probably benign |
Het |
| Slc39a2 |
G |
T |
14: 52,131,146 (GRCm39) |
|
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,918,268 (GRCm39) |
P631S |
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,923,482 (GRCm39) |
V265A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,542 (GRCm39) |
N103S |
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,942,300 (GRCm39) |
T684A |
possibly damaging |
Het |
| Tgm7 |
C |
T |
2: 120,929,489 (GRCm39) |
G262S |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,008,148 (GRCm39) |
S451T |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,173,788 (GRCm39) |
Y240C |
probably benign |
Het |
| Trio |
A |
T |
15: 27,891,534 (GRCm39) |
C465S |
unknown |
Het |
| Ttc22 |
G |
A |
4: 106,493,104 (GRCm39) |
W250* |
probably null |
Het |
| Upb1 |
C |
A |
10: 75,274,042 (GRCm39) |
F356L |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,573 (GRCm39) |
M419K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,990 (GRCm39) |
|
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,246 (GRCm39) |
T361A |
probably benign |
Het |
|
| Other mutations in Pcdh17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Pcdh17
|
APN |
14 |
84,684,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00902:Pcdh17
|
APN |
14 |
84,684,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01596:Pcdh17
|
APN |
14 |
84,685,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01665:Pcdh17
|
APN |
14 |
84,684,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01944:Pcdh17
|
APN |
14 |
84,684,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01944:Pcdh17
|
APN |
14 |
84,684,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01977:Pcdh17
|
APN |
14 |
84,770,537 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01988:Pcdh17
|
APN |
14 |
84,684,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02168:Pcdh17
|
APN |
14 |
84,770,635 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02500:Pcdh17
|
APN |
14 |
84,770,909 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02874:Pcdh17
|
APN |
14 |
84,685,680 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02882:Pcdh17
|
APN |
14 |
84,684,101 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02941:Pcdh17
|
APN |
14 |
84,685,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Pcdh17
|
APN |
14 |
84,770,551 (GRCm39) |
missense |
probably benign |
|
|
R0226_Pcdh17_958
|
UTSW |
14 |
84,685,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3405_Pcdh17_345
|
UTSW |
14 |
84,684,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Pcdh17
|
UTSW |
14 |
84,684,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0226:Pcdh17
|
UTSW |
14 |
84,685,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0537:Pcdh17
|
UTSW |
14 |
84,684,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Pcdh17
|
UTSW |
14 |
84,685,213 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0939:Pcdh17
|
UTSW |
14 |
84,685,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Pcdh17
|
UTSW |
14 |
84,684,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Pcdh17
|
UTSW |
14 |
84,715,094 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3404:Pcdh17
|
UTSW |
14 |
84,684,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Pcdh17
|
UTSW |
14 |
84,684,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Pcdh17
|
UTSW |
14 |
84,684,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Pcdh17
|
UTSW |
14 |
84,770,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3852:Pcdh17
|
UTSW |
14 |
84,684,699 (GRCm39) |
nonsense |
probably null |
|
|
R4015:Pcdh17
|
UTSW |
14 |
84,684,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4348:Pcdh17
|
UTSW |
14 |
84,685,060 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4365:Pcdh17
|
UTSW |
14 |
84,685,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4375:Pcdh17
|
UTSW |
14 |
84,685,711 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4693:Pcdh17
|
UTSW |
14 |
84,770,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Pcdh17
|
UTSW |
14 |
84,685,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Pcdh17
|
UTSW |
14 |
84,770,737 (GRCm39) |
missense |
probably benign |
|
|
R5074:Pcdh17
|
UTSW |
14 |
84,770,782 (GRCm39) |
missense |
probably benign |
|
|
R5080:Pcdh17
|
UTSW |
14 |
84,770,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5138:Pcdh17
|
UTSW |
14 |
84,684,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Pcdh17
|
UTSW |
14 |
84,770,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Pcdh17
|
UTSW |
14 |
84,684,856 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5686:Pcdh17
|
UTSW |
14 |
84,770,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5692:Pcdh17
|
UTSW |
14 |
84,685,980 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5695:Pcdh17
|
UTSW |
14 |
84,683,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Pcdh17
|
UTSW |
14 |
84,684,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Pcdh17
|
UTSW |
14 |
84,770,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6294:Pcdh17
|
UTSW |
14 |
84,715,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6508:Pcdh17
|
UTSW |
14 |
84,685,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Pcdh17
|
UTSW |
14 |
84,683,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Pcdh17
|
UTSW |
14 |
84,770,989 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7828:Pcdh17
|
UTSW |
14 |
84,770,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7904:Pcdh17
|
UTSW |
14 |
84,685,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8507:Pcdh17
|
UTSW |
14 |
84,683,384 (GRCm39) |
start gained |
probably benign |
|
|
R9069:Pcdh17
|
UTSW |
14 |
84,685,084 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9239:Pcdh17
|
UTSW |
14 |
84,770,649 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9283:Pcdh17
|
UTSW |
14 |
84,685,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9382:Pcdh17
|
UTSW |
14 |
84,685,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Pcdh17
|
UTSW |
14 |
84,684,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Pcdh17
|
UTSW |
14 |
84,686,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9548:Pcdh17
|
UTSW |
14 |
84,685,402 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9560:Pcdh17
|
UTSW |
14 |
84,770,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9777:Pcdh17
|
UTSW |
14 |
84,683,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Pcdh17
|
UTSW |
14 |
84,770,350 (GRCm39) |
nonsense |
probably null |
|
|
R9793:Pcdh17
|
UTSW |
14 |
84,770,350 (GRCm39) |
nonsense |
probably null |
|
|
R9794:Pcdh17
|
UTSW |
14 |
84,770,350 (GRCm39) |
nonsense |
probably null |
|
|
R9795:Pcdh17
|
UTSW |
14 |
84,770,350 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Pcdh17
|
UTSW |
14 |
84,684,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0026:Pcdh17
|
UTSW |
14 |
84,770,537 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0027:Pcdh17
|
UTSW |
14 |
84,685,750 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1088:Pcdh17
|
UTSW |
14 |
84,685,714 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAGCTTATCGACCGGAAC -3'
(R):5'- CCGAGGTATTCTCCTGGAATG -3'
Sequencing Primer
(F):5'- ATAACGCGCCGTCCATTG -3'
(R):5'- CTCCTGGAATGTTGTTCTCGTGTAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation