Incidental Mutation 'R9069:Pcdh17'
| ID |
689451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh17
|
| Ensembl Gene |
ENSMUSG00000035566 |
| Gene Name |
protocadherin 17 |
| Synonyms |
C030033F14Rik, LOC219228 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R9069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84685084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 517
(V517A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071370
AA Change: V517A
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: V517A
| 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: 98.9%
|
| Validation Efficiency |
100% (78/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,818,523 (GRCm39) |
C103S |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,236,349 (GRCm39) |
S841G |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,222,332 (GRCm39) |
V313E |
possibly damaging |
Het |
| Ahr |
G |
T |
12: 35,562,771 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,356,874 (GRCm39) |
M48L |
probably benign |
Het |
| Apaf1 |
A |
C |
10: 90,859,580 (GRCm39) |
|
probably null |
Het |
| Bank1 |
T |
C |
3: 135,989,772 (GRCm39) |
H106R |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,868,260 (GRCm39) |
|
probably benign |
Het |
| Castor1 |
A |
G |
11: 4,170,141 (GRCm39) |
E73G |
probably benign |
Het |
| Ccdc170 |
C |
T |
10: 4,511,016 (GRCm39) |
H692Y |
possibly damaging |
Het |
| Cd93 |
A |
G |
2: 148,284,071 (GRCm39) |
I425T |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,914,772 (GRCm39) |
L1067R |
possibly damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,519,447 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,251,990 (GRCm39) |
S549P |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,952,138 (GRCm39) |
S587P |
possibly damaging |
Het |
| Crebbp |
C |
A |
16: 3,903,187 (GRCm39) |
M2017I |
probably benign |
Het |
| Crybg1 |
A |
C |
10: 43,874,103 (GRCm39) |
F1002V |
probably benign |
Het |
| Ctif |
T |
C |
18: 75,654,458 (GRCm39) |
E356G |
probably damaging |
Het |
| Dbx2 |
T |
C |
15: 95,530,239 (GRCm39) |
K243E |
probably damaging |
Het |
| Dgkh |
C |
T |
14: 78,853,957 (GRCm39) |
V394I |
probably damaging |
Het |
| Dnaja4 |
T |
A |
9: 54,621,638 (GRCm39) |
M321K |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,866,324 (GRCm39) |
N593S |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,626,560 (GRCm39) |
S1260R |
probably damaging |
Het |
| Eea1 |
A |
T |
10: 95,831,510 (GRCm39) |
L200F |
probably damaging |
Het |
| Elp2 |
T |
G |
18: 24,765,833 (GRCm39) |
F658V |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,394,468 (GRCm39) |
Q116* |
probably null |
Het |
| Fstl5 |
A |
T |
3: 76,615,416 (GRCm39) |
N826Y |
probably damaging |
Het |
| Galp |
T |
C |
7: 6,214,347 (GRCm39) |
S60P |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,761,393 (GRCm39) |
M1316I |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,649,902 (GRCm39) |
M330V |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,562,862 (GRCm39) |
F175L |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,248,102 (GRCm39) |
I318T |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,855,841 (GRCm39) |
D63G |
probably benign |
Het |
| Il10ra |
T |
A |
9: 45,167,396 (GRCm39) |
Q387L |
probably damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,469,388 (GRCm39) |
G39V |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,836,381 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,331,996 (GRCm39) |
D1586E |
probably damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,607,947 (GRCm39) |
I243V |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mamdc4 |
G |
T |
2: 25,453,371 (GRCm39) |
T1216N |
probably damaging |
Het |
| Map1a |
A |
C |
2: 121,134,145 (GRCm39) |
K1654Q |
probably benign |
Het |
| Mta2 |
G |
A |
19: 8,924,104 (GRCm39) |
V195M |
probably damaging |
Het |
| Nav2 |
G |
T |
7: 49,208,561 (GRCm39) |
R1583L |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,247 (GRCm39) |
T91S |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,854,308 (GRCm39) |
L13Q |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 13,002,074 (GRCm39) |
|
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,157 (GRCm39) |
C754* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,791,988 (GRCm39) |
V1225A |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,960,802 (GRCm39) |
N485D |
probably benign |
Het |
| Plekho1 |
A |
C |
3: 95,902,995 (GRCm39) |
S14A |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,090,006 (GRCm39) |
C106S |
probably benign |
Het |
| Ppp6c |
A |
C |
2: 39,094,928 (GRCm39) |
L99R |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,345 (GRCm39) |
S202G |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,653,091 (GRCm39) |
Y3855* |
probably null |
Het |
| Ptpru |
A |
T |
4: 131,503,565 (GRCm39) |
I1155N |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,216,059 (GRCm39) |
G1042D |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,596,773 (GRCm39) |
V689A |
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,507,741 (GRCm39) |
G768S |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,474,549 (GRCm39) |
V237D |
probably benign |
Het |
| Serpinb9 |
T |
G |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| Slc12a7 |
T |
G |
13: 73,954,089 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,902 (GRCm39) |
F214I |
probably damaging |
Het |
| Slu7 |
A |
T |
11: 43,328,952 (GRCm39) |
D58V |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,745,558 (GRCm39) |
Y254C |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,260,805 (GRCm39) |
Y479* |
probably null |
Het |
| Specc1l |
A |
G |
10: 75,066,640 (GRCm39) |
N30D |
probably benign |
Het |
| Spopfm1 |
A |
C |
3: 94,173,153 (GRCm39) |
S50R |
possibly damaging |
Het |
| Tbck |
T |
C |
3: 132,428,130 (GRCm39) |
|
probably null |
Het |
| Tcf7l1 |
T |
C |
6: 72,610,259 (GRCm39) |
Y246C |
probably damaging |
Het |
| Tmem43 |
C |
T |
6: 91,463,897 (GRCm39) |
R391W |
possibly damaging |
Het |
| Trav7-1 |
T |
G |
14: 52,892,566 (GRCm39) |
S40A |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,832,440 (GRCm39) |
Y224* |
probably null |
Het |
| Trio |
A |
T |
15: 27,852,097 (GRCm39) |
I798N |
possibly damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,056,662 (GRCm39) |
|
probably null |
Het |
| Vmn1r213 |
T |
C |
13: 23,196,043 (GRCm39) |
S209P |
probably damaging |
Het |
| Ythdf1 |
G |
T |
2: 180,552,857 (GRCm39) |
R453S |
probably 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 |
|
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 |
|
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 |
|
|
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'- CCTTCGCCGTCAAGATTCTG -3'
(R):5'- TTCTGTAGCGTGGGAAGCAC -3'
Sequencing Primer
(F):5'- TTCTGGATGAGAATGACAATCCGC -3'
(R):5'- ACAATCACTGGAGCGTTGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation