Incidental Mutation 'R6294:Pcdh17'
| ID |
508633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh17
|
| Ensembl Gene |
ENSMUSG00000035566 |
| Gene Name |
protocadherin 17 |
| Synonyms |
C030033F14Rik, LOC219228 |
| MMRRC Submission |
044406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6294 (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 T
at 84715108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 924
(K924N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071370
AA Change: K924N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: K924N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228857
|
| Meta Mutation Damage Score |
0.0577 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,631,440 (GRCm39) |
H579L |
probably benign |
Het |
| Aldh2 |
G |
A |
5: 121,710,879 (GRCm39) |
Q8* |
probably null |
Het |
| Ankdd1a |
G |
T |
9: 65,427,446 (GRCm39) |
H10Q |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,956,520 (GRCm39) |
F453L |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,996,252 (GRCm39) |
D4461E |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,069 (GRCm39) |
S411T |
possibly damaging |
Het |
| Camk2g |
A |
G |
14: 20,815,017 (GRCm39) |
I203T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,290,640 (GRCm39) |
C425S |
probably benign |
Het |
| Ccdc34 |
A |
G |
2: 109,848,496 (GRCm39) |
D95G |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,630,946 (GRCm39) |
S305G |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,974,074 (GRCm39) |
I1453T |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,084,986 (GRCm39) |
K561T |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,993,564 (GRCm39) |
T359A |
probably benign |
Het |
| Far2 |
T |
A |
6: 148,058,980 (GRCm39) |
L222Q |
probably damaging |
Het |
| Fbxw17 |
A |
G |
13: 50,577,839 (GRCm39) |
E114G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,102 (GRCm39) |
|
probably benign |
Het |
| Ggn |
A |
G |
7: 28,873,273 (GRCm39) |
D666G |
possibly damaging |
Het |
| Hal |
G |
A |
10: 93,350,005 (GRCm39) |
|
probably null |
Het |
| Htt |
A |
G |
5: 34,979,170 (GRCm39) |
D851G |
probably benign |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,218 (GRCm39) |
D74E |
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,800,426 (GRCm39) |
S87L |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,133,995 (GRCm39) |
F720I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,602,196 (GRCm39) |
Y43N |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,880,989 (GRCm39) |
Y7N |
unknown |
Het |
| Lama4 |
T |
A |
10: 38,951,466 (GRCm39) |
F1070L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,831,814 (GRCm39) |
E98G |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,319 (GRCm39) |
M581T |
probably benign |
Het |
| Mtss2 |
T |
A |
8: 111,453,960 (GRCm39) |
N43K |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,077,012 (GRCm39) |
I475F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,927,073 (GRCm39) |
R82* |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,371,858 (GRCm39) |
N324S |
probably benign |
Het |
| Nemp1 |
C |
T |
10: 127,530,391 (GRCm39) |
T281M |
possibly damaging |
Het |
| Nrg3 |
A |
T |
14: 38,119,196 (GRCm39) |
H425Q |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,467 (GRCm39) |
N172K |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,517 (GRCm39) |
T76A |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,610,444 (GRCm39) |
T290S |
probably benign |
Het |
| Or4f62 |
A |
G |
2: 111,986,364 (GRCm39) |
I23V |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,288,798 (GRCm39) |
M183T |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,734,874 (GRCm39) |
I45F |
probably benign |
Het |
| Or5b123 |
T |
C |
19: 13,596,730 (GRCm39) |
V25A |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,447,867 (GRCm39) |
I38T |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,172,304 (GRCm39) |
T457A |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,433,424 (GRCm39) |
I3435F |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,416,604 (GRCm39) |
V171F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,531 (GRCm39) |
S87T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,059,419 (GRCm39) |
T237A |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,122,273 (GRCm39) |
Y372* |
probably null |
Het |
| Rell1 |
G |
T |
5: 64,097,048 (GRCm39) |
|
probably benign |
Het |
| Rps14 |
A |
G |
18: 60,910,033 (GRCm39) |
K61E |
possibly damaging |
Het |
| Rtl6 |
A |
G |
15: 84,441,321 (GRCm39) |
V25A |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,894,382 (GRCm39) |
S185R |
probably damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,141,621 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
T |
A |
18: 78,153,273 (GRCm39) |
|
probably null |
Het |
| Smad2 |
A |
T |
18: 76,422,233 (GRCm39) |
N215I |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,922 (GRCm39) |
N1473K |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,984,311 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
C |
6: 49,394,278 (GRCm39) |
R213S |
probably benign |
Het |
| Tmod4 |
A |
T |
3: 95,035,617 (GRCm39) |
Q255L |
probably benign |
Het |
| Tnpo1 |
T |
A |
13: 99,027,282 (GRCm39) |
Y3F |
probably benign |
Het |
| Tom1l1 |
A |
C |
11: 90,552,587 (GRCm39) |
Y206* |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,164,116 (GRCm39) |
K36E |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,252,094 (GRCm39) |
R282C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,614,110 (GRCm39) |
N246K |
possibly damaging |
Het |
| Ush2a |
C |
G |
1: 188,268,567 (GRCm39) |
S1674R |
possibly damaging |
Het |
| Vmn1r224 |
T |
C |
17: 20,640,083 (GRCm39) |
I220T |
probably benign |
Het |
| Vmn1r7 |
G |
C |
6: 57,001,404 (GRCm39) |
N285K |
probably benign |
Het |
| Vmn2r83 |
C |
T |
10: 79,313,688 (GRCm39) |
P99S |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,282 (GRCm39) |
F601L |
probably benign |
Het |
| Zc3h3 |
A |
T |
15: 75,681,417 (GRCm39) |
S555T |
possibly damaging |
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 |
|
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 |
|
R7094:Pcdh17
|
UTSW |
14 |
84,684,835 (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'- TGGTAGAGACAACACCCTCTCC -3'
(R):5'- ACCTCTTGAGTGGAATCGAGTTC -3'
Sequencing Primer
(F):5'- AGAGACAACACCCTCTCCTCTTTTTC -3'
(R):5'- CGAGTTCCTATTTTAAGAAGCTTCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation