Incidental Mutation 'R5686:Pcdh17'
ID |
443384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh17
|
Ensembl Gene |
ENSMUSG00000035566 |
Gene Name |
protocadherin 17 |
Synonyms |
C030033F14Rik, LOC219228 |
MMRRC Submission |
043319-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5686 (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 84770433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 970
(N970K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
AlphaFold |
E9PXF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071370
AA Change: N970K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071325 Gene: ENSMUSG00000035566 AA Change: N970K
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 |
|
Meta Mutation Damage Score |
0.3316 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (73/75) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,451,433 (GRCm39) |
E839G |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,402,304 (GRCm39) |
T575S |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,021,926 (GRCm39) |
C1158S |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,610,833 (GRCm39) |
F926L |
probably damaging |
Het |
BC035947 |
G |
T |
1: 78,474,567 (GRCm39) |
T655K |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,248,730 (GRCm39) |
T64A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,971,809 (GRCm39) |
F514Y |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,369 (GRCm39) |
K1378E |
probably benign |
Het |
Card6 |
A |
T |
15: 5,130,435 (GRCm39) |
N320K |
probably damaging |
Het |
Ccdc3 |
A |
T |
2: 5,142,871 (GRCm39) |
I43F |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,527 (GRCm39) |
S212P |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,759,854 (GRCm39) |
I632V |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,357,803 (GRCm39) |
E477G |
probably damaging |
Het |
Cpne5 |
A |
T |
17: 29,402,991 (GRCm39) |
C215S |
possibly damaging |
Het |
Crim1 |
T |
A |
17: 78,681,512 (GRCm39) |
S989T |
possibly damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,582,838 (GRCm39) |
N340K |
probably benign |
Het |
Eif4e2 |
G |
A |
1: 87,153,960 (GRCm39) |
|
probably null |
Het |
Ephb6 |
G |
T |
6: 41,596,638 (GRCm39) |
R895L |
possibly damaging |
Het |
Esrrg |
T |
A |
1: 187,882,395 (GRCm39) |
H217Q |
probably benign |
Het |
Fgl1 |
T |
A |
8: 41,653,594 (GRCm39) |
K100* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,521,430 (GRCm39) |
V450A |
probably benign |
Het |
G6pc2 |
A |
T |
2: 69,051,128 (GRCm39) |
I74L |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,161,684 (GRCm39) |
M336T |
probably damaging |
Het |
Gli1 |
T |
A |
10: 127,173,305 (GRCm39) |
T118S |
probably benign |
Het |
Gm5435 |
A |
T |
12: 82,542,800 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
A |
G |
8: 27,688,087 (GRCm39) |
L314P |
probably damaging |
Het |
Hk3 |
T |
A |
13: 55,154,626 (GRCm39) |
I740F |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,235,475 (GRCm39) |
T508A |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,297,936 (GRCm39) |
N431I |
probably benign |
Het |
Lax1 |
G |
A |
1: 133,607,914 (GRCm39) |
P276S |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,341,405 (GRCm39) |
V925E |
possibly damaging |
Het |
Lrp3 |
T |
A |
7: 34,902,910 (GRCm39) |
T479S |
possibly damaging |
Het |
Metrn |
G |
A |
17: 26,014,191 (GRCm39) |
R212C |
probably damaging |
Het |
Mlip |
A |
C |
9: 77,254,975 (GRCm39) |
|
probably null |
Het |
Mmp24 |
C |
T |
2: 155,641,697 (GRCm39) |
T175I |
probably damaging |
Het |
N6amt1 |
A |
T |
16: 87,151,223 (GRCm39) |
D28V |
probably damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,677 (GRCm39) |
Y120* |
probably null |
Het |
Or4f4b |
G |
A |
2: 111,314,488 (GRCm39) |
G238R |
probably damaging |
Het |
Or5p52 |
A |
G |
7: 107,502,119 (GRCm39) |
H65R |
probably damaging |
Het |
Or5p66 |
G |
T |
7: 107,885,949 (GRCm39) |
A128E |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,890 (GRCm39) |
T6A |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,265 (GRCm39) |
I201F |
possibly damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,128,389 (GRCm39) |
Y759C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,558,290 (GRCm39) |
L323P |
probably damaging |
Het |
Psg21 |
G |
T |
7: 18,386,183 (GRCm39) |
|
probably benign |
Het |
Rest |
T |
C |
5: 77,429,573 (GRCm39) |
V664A |
probably benign |
Het |
Sco2 |
G |
A |
15: 89,256,175 (GRCm39) |
R160* |
probably null |
Het |
Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
Slc5a10 |
A |
T |
11: 61,569,392 (GRCm39) |
M329K |
probably benign |
Het |
Slco1a5 |
G |
A |
6: 142,182,033 (GRCm39) |
P564S |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,201,103 (GRCm39) |
F191S |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,072,826 (GRCm39) |
Y2161F |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 83,970,428 (GRCm39) |
T441M |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,560,738 (GRCm39) |
N1033K |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,615,686 (GRCm39) |
I126N |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,925,967 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,927,032 (GRCm39) |
D831E |
possibly damaging |
Het |
Uhmk1 |
A |
T |
1: 170,038,787 (GRCm39) |
V100E |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,812,742 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,933,712 (GRCm39) |
Y424F |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,685,064 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
T |
2: 67,312,642 (GRCm39) |
K37I |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,363,988 (GRCm39) |
|
probably null |
Het |
Zfp748 |
A |
T |
13: 67,690,647 (GRCm39) |
C204* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
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 |
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'- CACAGCCTCAAGTAGAAATGGC -3'
(R):5'- CAATGCATGCCTTGGTTGGG -3'
Sequencing Primer
(F):5'- CAAGGAAACTCTAATGATCGGATTG -3'
(R):5'- CTGCTAGATGCTGAGGGGAC -3'
|
Posted On |
2016-11-09 |