Incidental Mutation 'R9795:Pcdh17'
| ID |
734899 |
| 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 # |
R9795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 84770350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 943
(R943*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071370
AA Change: R943*
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: R943*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
T |
15: 94,301,180 (GRCm39) |
G115R |
possibly damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,837,421 (GRCm39) |
V701A |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,224 (GRCm39) |
T224I |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,544 (GRCm39) |
I180V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
| Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
| Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,372,910 (GRCm39) |
E931G |
probably benign |
Het |
| Foxred1 |
CGGG |
CGG |
9: 35,122,152 (GRCm39) |
|
probably null |
Het |
| Gstt1 |
T |
C |
10: 75,634,391 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Hcn4 |
C |
T |
9: 58,760,762 (GRCm39) |
Q436* |
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,169 (GRCm39) |
S49P |
probably damaging |
Het |
| Krt73 |
C |
A |
15: 101,710,725 (GRCm39) |
R3L |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,876,128 (GRCm39) |
I493N |
probably damaging |
Het |
| Ly6e |
G |
T |
15: 74,830,390 (GRCm39) |
C80F |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
| Mitf |
A |
G |
6: 97,970,143 (GRCm39) |
H137R |
probably benign |
Het |
| Nr1h4 |
T |
G |
10: 89,314,651 (GRCm39) |
T286P |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
| Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
| Or5ac17 |
T |
A |
16: 59,036,938 (GRCm39) |
I13F |
possibly damaging |
Het |
| Or5p79 |
A |
G |
7: 108,221,869 (GRCm39) |
I283M |
probably benign |
Het |
| Or7e170 |
T |
A |
9: 19,795,347 (GRCm39) |
M85L |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,412 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
| Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
| Qrich1 |
T |
A |
9: 108,411,089 (GRCm39) |
S205T |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
| Slc27a3 |
C |
T |
3: 90,296,875 (GRCm39) |
W32* |
probably null |
Het |
| Slc5a8 |
T |
C |
10: 88,757,591 (GRCm39) |
I527T |
possibly damaging |
Het |
| Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
| Stx7 |
T |
C |
10: 24,057,475 (GRCm39) |
L167P |
probably damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,712,655 (GRCm39) |
N63I |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,247,499 (GRCm39) |
S1315P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,561 (GRCm39) |
V605D |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp51 |
T |
G |
17: 21,682,051 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- ACCATTGTCTCAACCAGCAGG -3'
(R):5'- AGAATAGTGTGCTCTCGCTTGTC -3'
Sequencing Primer
(F):5'- CTGATCACAGCCTCAAGT -3'
(R):5'- AATAGTGTGCTCTCGCTTGTCTTTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation