Incidental Mutation 'IGL02302:Pcdh18'
| ID |
287427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdh18
|
| Ensembl Gene |
ENSMUSG00000037892 |
| Gene Name |
protocadherin 18 |
| Synonyms |
PCDH68L |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49710387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 309
(F309L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035931]
[ENSMUST00000191794]
|
| AlphaFold |
Q8VHR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035931
AA Change: F309L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: F309L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
|
CA
|
51 |
135 |
1.36e-1 |
SMART |
|
CA
|
159 |
244 |
3.78e-20 |
SMART |
|
CA
|
268 |
352 |
1.12e-22 |
SMART |
|
CA
|
382 |
463 |
5.76e-25 |
SMART |
|
CA
|
487 |
574 |
2.51e-25 |
SMART |
|
CA
|
603 |
684 |
8e-3 |
SMART |
|
transmembrane domain
|
698 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1009 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191794
AA Change: F309L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: F309L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
CA
|
51 |
135 |
6.6e-4 |
SMART |
|
CA
|
159 |
244 |
1.9e-22 |
SMART |
|
CA
|
268 |
352 |
5.6e-25 |
SMART |
|
CA
|
382 |
463 |
2.7e-27 |
SMART |
|
CA
|
487 |
574 |
1.2e-27 |
SMART |
|
CA
|
603 |
684 |
3.9e-5 |
SMART |
|
transmembrane domain
|
698 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
783 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195086
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,422,257 (GRCm39) |
Q211L |
possibly damaging |
Het |
| Abca14 |
T |
A |
7: 119,917,968 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
A |
T |
8: 124,685,411 (GRCm39) |
V543D |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,431,057 (GRCm39) |
T909I |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,084,799 (GRCm39) |
N76S |
probably benign |
Het |
| Bbx |
A |
T |
16: 50,045,278 (GRCm39) |
C320S |
probably damaging |
Het |
| Castor2 |
G |
A |
5: 134,164,482 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cdh23 |
C |
A |
10: 60,159,302 (GRCm39) |
V2159F |
possibly damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,948,136 (GRCm39) |
A149T |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,512,535 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,482 (GRCm39) |
F1905I |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,428,866 (GRCm39) |
Y792C |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,538 (GRCm39) |
V1101A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,775,776 (GRCm39) |
L573P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Ear1 |
T |
G |
14: 44,056,504 (GRCm39) |
Q121H |
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,119,321 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,530,619 (GRCm39) |
K271R |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,348,236 (GRCm39) |
L884P |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,741,160 (GRCm39) |
N125S |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,095,144 (GRCm39) |
E357G |
probably damaging |
Het |
| Gabbr1 |
C |
T |
17: 37,365,689 (GRCm39) |
R123W |
probably damaging |
Het |
| Gimap4 |
T |
G |
6: 48,667,347 (GRCm39) |
V34G |
probably damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,011 (GRCm38) |
V180E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,972,407 (GRCm39) |
N204K |
probably damaging |
Het |
| Ighv1-84 |
T |
A |
12: 115,944,549 (GRCm39) |
K42* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,536,402 (GRCm39) |
Q1060L |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,158,868 (GRCm39) |
I223N |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,088,039 (GRCm39) |
P913S |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,832,841 (GRCm39) |
I334M |
probably damaging |
Het |
| Lrrc45 |
G |
T |
11: 120,609,351 (GRCm39) |
E403D |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,090,747 (GRCm39) |
L462P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,598,132 (GRCm39) |
V346A |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,227,763 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,477,091 (GRCm39) |
N56S |
probably benign |
Het |
| Niban2 |
A |
G |
2: 32,811,135 (GRCm39) |
I382V |
probably benign |
Het |
| Ntn5 |
G |
T |
7: 45,343,672 (GRCm39) |
R337L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,105,962 (GRCm39) |
K894E |
probably benign |
Het |
| Or1j4 |
G |
T |
2: 36,740,715 (GRCm39) |
G219V |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,889,272 (GRCm39) |
Y272N |
probably damaging |
Het |
| Or4f56 |
A |
C |
2: 111,703,887 (GRCm39) |
S104R |
possibly damaging |
Het |
| Or7e168 |
A |
T |
9: 19,719,981 (GRCm39) |
R122S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,542,571 (GRCm39) |
D1772G |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,279,006 (GRCm39) |
R662L |
probably damaging |
Het |
| Ppp5c |
G |
A |
7: 16,742,555 (GRCm39) |
S261L |
possibly damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,749 (GRCm39) |
R288W |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,765,675 (GRCm39) |
|
probably benign |
Het |
| Rfx8 |
A |
C |
1: 39,704,682 (GRCm39) |
S578A |
possibly damaging |
Het |
| Rhbdl3 |
T |
G |
11: 80,244,507 (GRCm39) |
*405E |
probably null |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf139 |
G |
T |
15: 58,770,606 (GRCm39) |
L210F |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,814,879 (GRCm39) |
R192G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,794,701 (GRCm39) |
V137E |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,076,234 (GRCm39) |
D30E |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,128 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,220,390 (GRCm39) |
C101S |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,728,324 (GRCm39) |
T74A |
probably benign |
Het |
| Sult3a1 |
A |
G |
10: 33,742,571 (GRCm39) |
N66S |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,773,947 (GRCm39) |
K508M |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,903,626 (GRCm39) |
S275P |
probably damaging |
Het |
| Tmed8 |
G |
T |
12: 87,220,990 (GRCm39) |
H199N |
probably damaging |
Het |
| Tubg2 |
A |
T |
11: 101,046,971 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,183,848 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,776,945 (GRCm39) |
S366P |
possibly damaging |
Het |
|
| Other mutations in Pcdh18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Pcdh18
|
APN |
3 |
49,707,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00639:Pcdh18
|
APN |
3 |
49,710,065 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00954:Pcdh18
|
APN |
3 |
49,710,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01338:Pcdh18
|
APN |
3 |
49,710,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Pcdh18
|
APN |
3 |
49,710,247 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01687:Pcdh18
|
APN |
3 |
49,707,982 (GRCm39) |
splice site |
probably benign |
|
|
IGL01727:Pcdh18
|
APN |
3 |
49,710,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01788:Pcdh18
|
APN |
3 |
49,710,371 (GRCm39) |
nonsense |
probably null |
|
|
IGL01824:Pcdh18
|
APN |
3 |
49,709,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Pcdh18
|
APN |
3 |
49,711,279 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01913:Pcdh18
|
APN |
3 |
49,709,698 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01915:Pcdh18
|
APN |
3 |
49,699,370 (GRCm39) |
missense |
probably benign |
|
|
IGL02095:Pcdh18
|
APN |
3 |
49,710,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02128:Pcdh18
|
APN |
3 |
49,711,135 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02342:Pcdh18
|
APN |
3 |
49,710,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Pcdh18
|
APN |
3 |
49,699,052 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02499:Pcdh18
|
APN |
3 |
49,707,896 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02570:Pcdh18
|
APN |
3 |
49,711,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02745:Pcdh18
|
APN |
3 |
49,710,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Pcdh18
|
APN |
3 |
49,707,816 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4469001:Pcdh18
|
UTSW |
3 |
49,709,518 (GRCm39) |
missense |
probably benign |
|
|
R0078:Pcdh18
|
UTSW |
3 |
49,710,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Pcdh18
|
UTSW |
3 |
49,711,147 (GRCm39) |
splice site |
probably null |
|
|
R0524:Pcdh18
|
UTSW |
3 |
49,710,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0661:Pcdh18
|
UTSW |
3 |
49,707,767 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0900:Pcdh18
|
UTSW |
3 |
49,711,252 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1101:Pcdh18
|
UTSW |
3 |
49,707,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Pcdh18
|
UTSW |
3 |
49,709,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1778:Pcdh18
|
UTSW |
3 |
49,710,083 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1850:Pcdh18
|
UTSW |
3 |
49,710,854 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1875:Pcdh18
|
UTSW |
3 |
49,709,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1903:Pcdh18
|
UTSW |
3 |
49,709,896 (GRCm39) |
missense |
probably benign |
|
|
R1956:Pcdh18
|
UTSW |
3 |
49,710,400 (GRCm39) |
missense |
probably benign |
|
|
R2044:Pcdh18
|
UTSW |
3 |
49,709,389 (GRCm39) |
missense |
probably benign |
|
|
R2303:Pcdh18
|
UTSW |
3 |
49,709,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Pcdh18
|
UTSW |
3 |
49,709,240 (GRCm39) |
missense |
probably benign |
|
|
R3732:Pcdh18
|
UTSW |
3 |
49,709,240 (GRCm39) |
missense |
probably benign |
|
|
R3733:Pcdh18
|
UTSW |
3 |
49,709,240 (GRCm39) |
missense |
probably benign |
|
|
R3973:Pcdh18
|
UTSW |
3 |
49,709,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4281:Pcdh18
|
UTSW |
3 |
49,710,982 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4601:Pcdh18
|
UTSW |
3 |
49,699,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Pcdh18
|
UTSW |
3 |
49,710,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4752:Pcdh18
|
UTSW |
3 |
49,709,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Pcdh18
|
UTSW |
3 |
49,699,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4867:Pcdh18
|
UTSW |
3 |
49,709,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Pcdh18
|
UTSW |
3 |
49,708,906 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5039:Pcdh18
|
UTSW |
3 |
49,709,305 (GRCm39) |
missense |
probably benign |
|
|
R5169:Pcdh18
|
UTSW |
3 |
49,710,415 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5438:Pcdh18
|
UTSW |
3 |
49,710,465 (GRCm39) |
nonsense |
probably null |
|
|
R5579:Pcdh18
|
UTSW |
3 |
49,699,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Pcdh18
|
UTSW |
3 |
49,708,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6220:Pcdh18
|
UTSW |
3 |
49,699,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Pcdh18
|
UTSW |
3 |
49,710,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6789:Pcdh18
|
UTSW |
3 |
49,710,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7011:Pcdh18
|
UTSW |
3 |
49,709,231 (GRCm39) |
missense |
probably benign |
|
|
R7146:Pcdh18
|
UTSW |
3 |
49,710,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7150:Pcdh18
|
UTSW |
3 |
49,709,143 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7205:Pcdh18
|
UTSW |
3 |
49,709,923 (GRCm39) |
missense |
probably benign |
|
|
R7326:Pcdh18
|
UTSW |
3 |
49,711,309 (GRCm39) |
missense |
probably benign |
|
|
R7413:Pcdh18
|
UTSW |
3 |
49,699,232 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7755:Pcdh18
|
UTSW |
3 |
49,709,278 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7848:Pcdh18
|
UTSW |
3 |
49,710,446 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8169:Pcdh18
|
UTSW |
3 |
49,699,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8264:Pcdh18
|
UTSW |
3 |
49,711,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Pcdh18
|
UTSW |
3 |
49,699,624 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8406:Pcdh18
|
UTSW |
3 |
49,710,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Pcdh18
|
UTSW |
3 |
49,699,624 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8489:Pcdh18
|
UTSW |
3 |
49,709,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8526:Pcdh18
|
UTSW |
3 |
49,710,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Pcdh18
|
UTSW |
3 |
49,699,339 (GRCm39) |
missense |
probably benign |
|
|
R9285:Pcdh18
|
UTSW |
3 |
49,707,786 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9316:Pcdh18
|
UTSW |
3 |
49,709,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Pcdh18
|
UTSW |
3 |
49,709,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9410:Pcdh18
|
UTSW |
3 |
49,699,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Pcdh18
|
UTSW |
3 |
49,709,051 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9432:Pcdh18
|
UTSW |
3 |
49,699,667 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9547:Pcdh18
|
UTSW |
3 |
49,709,506 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9567:Pcdh18
|
UTSW |
3 |
49,710,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9622:Pcdh18
|
UTSW |
3 |
49,711,229 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9687:Pcdh18
|
UTSW |
3 |
49,711,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation