Incidental Mutation 'R7137:Pcdh17'
| ID |
553147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh17
|
| Ensembl Gene |
ENSMUSG00000035566 |
| Gene Name |
protocadherin 17 |
| Synonyms |
C030033F14Rik, LOC219228 |
| MMRRC Submission |
045248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84770989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1156
(R1156G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071370
AA Change: R1156G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: R1156G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,173,399 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
| Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,078,632 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
| Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
| Cyp2d12 |
C |
T |
15: 82,442,022 (GRCm39) |
A280V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
| Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
| Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
| Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
| Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
| Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
| Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
| Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,803,228 (GRCm39) |
T21A |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
| Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
| Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
| Usp17lb |
C |
A |
7: 104,490,798 (GRCm39) |
W43L |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
| Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
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 |
|
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'- GTCTTCGCGGATGTGCATTC -3'
(R):5'- TGCATACCTTCCTAACAGATTGTC -3'
Sequencing Primer
(F):5'- ATGTGCATTCCAGAGCCCGTAG -3'
(R):5'- CCTTCCTAACAGATTGTCAAAAGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation