Incidental Mutation 'R5541:Pcdh17'
ID |
435988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh17
|
Ensembl Gene |
ENSMUSG00000035566 |
Gene Name |
protocadherin 17 |
Synonyms |
C030033F14Rik, LOC219228 |
MMRRC Submission |
043099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5541 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84684856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 441
(V441E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
AlphaFold |
E9PXF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071370
AA Change: V441E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071325 Gene: ENSMUSG00000035566 AA Change: V441E
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
|
Meta Mutation Damage Score |
0.1306 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (63/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,231,707 (GRCm39) |
|
probably null |
Het |
Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
Marchf10 |
C |
T |
11: 105,280,957 (GRCm39) |
D443N |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
Rbak |
G |
A |
5: 143,159,745 (GRCm39) |
S436F |
probably damaging |
Het |
Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
Zfp568 |
T |
A |
7: 29,722,301 (GRCm39) |
D414E |
possibly damaging |
Het |
Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
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 |
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 |
|
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'- GAATGGGCAGCTTCAGTGTC -3'
(R):5'- AATAGACACGTCGCCGATG -3'
Sequencing Primer
(F):5'- CAGCTTCAGTGTCGGGTTC -3'
(R):5'- AATGGAGTATGACACTGTCCC -3'
|
Posted On |
2016-10-24 |