Incidental Mutation 'R9548:Pcdh17'
| ID |
720271 |
| 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: 0.100)
|
| Stock # |
R9548 (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 T
at 84685402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 623
(Y623F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071370]
|
| AlphaFold |
E9PXF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071370
AA Change: Y623F
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: Y623F
| 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: 99.3%
- 20x: 97.5%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
G |
A |
11: 72,641,005 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,262 (GRCm39) |
Y1340C |
probably damaging |
Het |
| Bcl2 |
C |
A |
1: 106,640,508 (GRCm39) |
A35S |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,623 (GRCm39) |
S188T |
probably benign |
Het |
| Carmil1 |
C |
A |
13: 24,460,516 (GRCm39) |
G21V |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,663,956 (GRCm39) |
V112A |
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,007,858 (GRCm39) |
E319G |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,661,832 (GRCm39) |
D587E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,040 (GRCm39) |
T239S |
possibly damaging |
Het |
| Cma2 |
A |
C |
14: 56,211,256 (GRCm39) |
I239L |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,482,854 (GRCm39) |
M733K |
probably benign |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,170 (GRCm39) |
D225G |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,890,158 (GRCm39) |
R276H |
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,141 (GRCm39) |
F88L |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,776 (GRCm39) |
N95S |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,328,025 (GRCm39) |
T2133K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
G |
A |
5: 9,490,859 (GRCm39) |
G623D |
probably damaging |
Het |
| Epn2 |
A |
T |
11: 61,436,988 (GRCm39) |
S195T |
probably benign |
Het |
| Exoc3 |
A |
T |
13: 74,330,285 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,058,970 (GRCm39) |
V256L |
probably damaging |
Het |
| Fis1 |
A |
T |
5: 136,991,907 (GRCm39) |
T34S |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,161 (GRCm39) |
C118S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,891,808 (GRCm39) |
V340E |
probably damaging |
Het |
| Ifng |
C |
A |
10: 118,277,128 (GRCm39) |
H23Q |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,694,660 (GRCm39) |
E32K |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,388,733 (GRCm39) |
T3239P |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,996 (GRCm39) |
Y28F |
probably benign |
Het |
| Maml3 |
A |
T |
3: 51,763,791 (GRCm39) |
V391E |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,141 (GRCm39) |
R59H |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,070,884 (GRCm39) |
L120I |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,421,648 (GRCm39) |
H4349N |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,499,154 (GRCm39) |
P110S |
probably benign |
Het |
| Nol10 |
T |
G |
12: 17,466,144 (GRCm39) |
I513S |
possibly damaging |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,641,097 (GRCm39) |
N311I |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,111,991 (GRCm39) |
*309W |
probably null |
Het |
| Or56b1b |
A |
T |
7: 108,164,334 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,416 (GRCm39) |
T213S |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,289,826 (GRCm39) |
I525F |
probably benign |
Het |
| Peak1 |
G |
T |
9: 56,113,917 (GRCm39) |
Q1675K |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,290 (GRCm39) |
V278A |
probably benign |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,527 (GRCm39) |
R115C |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,690 (GRCm39) |
L635Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,692 (GRCm39) |
T913A |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,788,673 (GRCm39) |
I233F |
possibly damaging |
Het |
| Skint9 |
T |
G |
4: 112,276,346 (GRCm39) |
L8F |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,258,041 (GRCm39) |
N360K |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,460,865 (GRCm39) |
Y243* |
probably null |
Het |
| Slc22a19 |
C |
A |
19: 7,659,219 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
T |
C |
1: 72,671,999 (GRCm39) |
I840T |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,991,303 (GRCm39) |
K1019E |
possibly damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,700 (GRCm39) |
S83P |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,382 (GRCm39) |
H78R |
probably damaging |
Het |
| Tcstv7a |
T |
A |
13: 120,289,924 (GRCm39) |
I91F |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,113,833 (GRCm39) |
E475G |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,644,768 (GRCm39) |
V312A |
probably benign |
Het |
| Traip |
C |
A |
9: 107,833,099 (GRCm39) |
T45N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,691 (GRCm39) |
Y25734C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 102,977,495 (GRCm39) |
V166D |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,622 (GRCm39) |
V282F |
possibly damaging |
Het |
| Vmn1r184 |
G |
A |
7: 25,966,734 (GRCm39) |
S160N |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,033,059 (GRCm39) |
D2231G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,401,323 (GRCm39) |
G4132D |
unknown |
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 |
|
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'- GGCTTTTGAATTCAAAGTACTGGC -3'
(R):5'- TGATAAGTTTGGCCACAGCG -3'
Sequencing Primer
(F):5'- ACTTGGAGAGCAACGCC -3'
(R):5'- TTTGGCCACAGCGGAAAG -3'
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| Posted On |
2022-07-18 |
Incidental Mutation