Incidental Mutation 'R4811:Pcdh17'
| ID |
369463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh17
|
| Ensembl Gene |
ENSMUSG00000035566 |
| Gene Name |
protocadherin 17 |
| Synonyms |
C030033F14Rik, LOC219228 |
| MMRRC Submission |
042430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4811 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
84680626-84775005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84685375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 614
(D614A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071370
AA Change: D614A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: D614A
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
G |
A |
15: 37,425,952 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
C |
T |
8: 25,201,740 (GRCm39) |
G208R |
probably benign |
Het |
| Arsg |
G |
T |
11: 109,424,898 (GRCm39) |
V290L |
probably benign |
Het |
| Cad |
A |
G |
5: 31,232,034 (GRCm39) |
T104A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,928,020 (GRCm39) |
N1185S |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,877 (GRCm39) |
T113A |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,133,618 (GRCm39) |
A967T |
probably damaging |
Het |
| Cyp4f16 |
A |
G |
17: 32,764,080 (GRCm39) |
T291A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,432,554 (GRCm39) |
H1300L |
probably benign |
Het |
| Ddx23 |
T |
A |
15: 98,545,352 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
G |
7: 105,363,488 (GRCm39) |
S4017A |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,293,703 (GRCm39) |
F729L |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,296,886 (GRCm39) |
R1292L |
probably benign |
Het |
| Fam186b |
C |
T |
15: 99,178,118 (GRCm39) |
V403M |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,499,628 (GRCm39) |
N576D |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,111,167 (GRCm39) |
|
probably null |
Het |
| Fbxw17 |
T |
C |
13: 50,579,669 (GRCm39) |
V162A |
probably benign |
Het |
| Gas2l1 |
A |
C |
11: 5,014,436 (GRCm39) |
I8S |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,711,781 (GRCm39) |
L195P |
probably damaging |
Het |
| Gps2 |
A |
T |
11: 69,806,754 (GRCm39) |
H233L |
probably damaging |
Het |
| Guf1 |
T |
G |
5: 69,721,852 (GRCm39) |
|
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,438,668 (GRCm39) |
L241S |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,519,988 (GRCm39) |
|
probably null |
Het |
| Ints14 |
A |
G |
9: 64,871,800 (GRCm39) |
Y46C |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,339 (GRCm39) |
Q293H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,687,043 (GRCm39) |
L593P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,174 (GRCm39) |
T297A |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,437,848 (GRCm39) |
V86A |
probably damaging |
Het |
| Lins1 |
T |
A |
7: 66,357,898 (GRCm39) |
I11K |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,683,448 (GRCm39) |
F2757L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,951,685 (GRCm39) |
I3762T |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,525,851 (GRCm39) |
S90P |
possibly damaging |
Het |
| Mfsd2a |
T |
A |
4: 122,853,175 (GRCm39) |
Q38L |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,922 (GRCm39) |
F546S |
probably damaging |
Het |
| Myo5a |
G |
A |
9: 75,048,825 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
A |
13: 100,422,299 (GRCm39) |
G1245W |
probably damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,584,645 (GRCm39) |
T107I |
probably benign |
Het |
| Nek8 |
C |
T |
11: 78,058,544 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
C |
7: 30,159,854 (GRCm39) |
V55A |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,240 (GRCm39) |
H75Q |
probably damaging |
Het |
| Oas1e |
C |
T |
5: 120,933,448 (GRCm39) |
S39N |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,166 (GRCm39) |
T52A |
probably benign |
Het |
| Or2y1e |
T |
G |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,876 (GRCm39) |
F135L |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,049 (GRCm39) |
I135F |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,868 (GRCm39) |
H632Q |
probably damaging |
Het |
| Paqr3 |
A |
C |
5: 97,243,842 (GRCm39) |
S291A |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,830,606 (GRCm39) |
E422G |
possibly damaging |
Het |
| Pgr |
G |
T |
9: 8,900,844 (GRCm39) |
E126* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,936 (GRCm39) |
V532A |
possibly damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,071,738 (GRCm39) |
I186T |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,388,564 (GRCm39) |
|
probably null |
Het |
| Poc1a |
A |
G |
9: 106,226,908 (GRCm39) |
T334A |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,111 (GRCm39) |
K211* |
probably null |
Het |
| Rdh13 |
T |
C |
7: 4,445,652 (GRCm39) |
E94G |
probably benign |
Het |
| Rnf186 |
A |
G |
4: 138,694,498 (GRCm39) |
S13G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,670,584 (GRCm39) |
R3471G |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,971,742 (GRCm39) |
T831A |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,316,403 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,082,404 (GRCm39) |
N408S |
probably benign |
Het |
| Snn |
T |
C |
16: 10,890,397 (GRCm39) |
V72A |
probably benign |
Het |
| Sys1 |
T |
A |
2: 164,306,344 (GRCm39) |
H99Q |
possibly damaging |
Het |
| Syt7 |
A |
G |
19: 10,412,931 (GRCm39) |
K122R |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,396,311 (GRCm39) |
L550Q |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,681 (GRCm39) |
L184P |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,993,438 (GRCm39) |
I599T |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,281,279 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,538,507 (GRCm39) |
V379G |
possibly damaging |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,621 (GRCm39) |
E78K |
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,262,897 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,858,054 (GRCm39) |
L165P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,633,956 (GRCm39) |
Y750C |
probably damaging |
Het |
| Ttbk2 |
A |
C |
2: 120,570,551 (GRCm39) |
S1201A |
possibly damaging |
Het |
| Ust |
T |
A |
10: 8,121,705 (GRCm39) |
H301L |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,647,249 (GRCm39) |
F543L |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,971,645 (GRCm39) |
|
probably null |
Het |
| Zfp85 |
T |
C |
13: 67,897,745 (GRCm39) |
Y109C |
probably damaging |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,237,420 (GRCm39) |
C134S |
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 |
|
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 |
|
|
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'- TGAATTCAAAGTACTGGCTAAGGAC -3'
(R):5'- GCGGATGATAAGTTTGGCCAC -3'
Sequencing Primer
(F):5'- TACTGGCTAAGGACTCAGGG -3'
(R):5'- TAAGTTTGGCCACAGCGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation