Incidental Mutation 'R9339:Pcdh18'
ID |
707353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9339 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49709335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 660
(D660G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039245
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035931]
[ENSMUST00000191794]
|
AlphaFold |
Q8VHR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035931
AA Change: D660G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: D660G
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 damaging
Transcript: ENSMUST00000191794
AA Change: D660G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141995 Gene: ENSMUSG00000037892 AA Change: D660G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (77/78) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,667,521 (GRCm39) |
E304G |
unknown |
Het |
4933436I01Rik |
T |
A |
X: 66,964,689 (GRCm39) |
K57* |
probably null |
Het |
Aar2 |
T |
C |
2: 156,392,893 (GRCm39) |
V94A |
probably benign |
Het |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Adam25 |
T |
C |
8: 41,206,911 (GRCm39) |
V59A |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,987,616 (GRCm39) |
D103G |
probably damaging |
Het |
Ankrd12 |
A |
G |
17: 66,291,408 (GRCm39) |
S1342P |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,730,571 (GRCm39) |
T739A |
probably benign |
Het |
Catsperg1 |
T |
A |
7: 28,894,885 (GRCm39) |
N571Y |
probably benign |
Het |
Cela3b |
A |
G |
4: 137,152,355 (GRCm39) |
I74T |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,485,293 (GRCm39) |
L51P |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,682,044 (GRCm39) |
Y184F |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,396,100 (GRCm39) |
D534E |
probably benign |
Het |
Cstf3 |
C |
T |
2: 104,493,778 (GRCm39) |
P594L |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,492,689 (GRCm39) |
L602P |
probably damaging |
Het |
Defa24 |
A |
G |
8: 22,224,559 (GRCm39) |
T3A |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,847,941 (GRCm39) |
H546R |
probably benign |
Het |
Dscam |
A |
G |
16: 96,517,263 (GRCm39) |
V882A |
possibly damaging |
Het |
Dydc2 |
A |
G |
14: 40,771,260 (GRCm39) |
*140Q |
probably null |
Het |
Ehd4 |
T |
C |
2: 119,921,708 (GRCm39) |
D516G |
possibly damaging |
Het |
En1 |
T |
C |
1: 120,534,893 (GRCm39) |
V394A |
unknown |
Het |
Erich3 |
T |
G |
3: 154,468,872 (GRCm39) |
L1108R |
unknown |
Het |
Erp27 |
A |
G |
6: 136,896,945 (GRCm39) |
S86P |
probably benign |
Het |
Esr1 |
A |
C |
10: 4,696,798 (GRCm39) |
S216R |
probably damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,286 (GRCm39) |
I608N |
probably damaging |
Het |
Fcna |
G |
A |
2: 25,517,782 (GRCm39) |
Q23* |
probably null |
Het |
Foxn4 |
C |
T |
5: 114,394,955 (GRCm39) |
R324Q |
probably benign |
Het |
Gata6 |
A |
G |
18: 11,054,520 (GRCm39) |
T150A |
probably damaging |
Het |
Gbp2b |
T |
A |
3: 142,317,178 (GRCm39) |
H511Q |
probably benign |
Het |
Gpr171 |
C |
A |
3: 59,005,362 (GRCm39) |
V138L |
probably damaging |
Het |
Grhl2 |
G |
A |
15: 37,344,904 (GRCm39) |
V509I |
probably benign |
Het |
Gzmd |
G |
A |
14: 56,367,869 (GRCm39) |
P135S |
probably damaging |
Het |
Hhatl |
C |
A |
9: 121,618,862 (GRCm39) |
C90F |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,278,480 (GRCm39) |
K3050R |
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,130,786 (GRCm39) |
Y468H |
probably damaging |
Het |
Lhfpl6 |
A |
G |
3: 52,950,891 (GRCm39) |
H55R |
probably benign |
Het |
Lpgat1 |
T |
C |
1: 191,451,488 (GRCm39) |
V38A |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,510,031 (GRCm39) |
I479T |
probably benign |
Het |
Map1b |
A |
T |
13: 99,567,570 (GRCm39) |
I1717N |
unknown |
Het |
Map3k20 |
G |
T |
2: 72,272,216 (GRCm39) |
R781S |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,358 (GRCm39) |
E157G |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,755,370 (GRCm39) |
E178G |
probably damaging |
Het |
Naaladl2 |
A |
G |
3: 24,057,146 (GRCm39) |
L605P |
probably damaging |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Nt5el |
C |
T |
13: 105,246,114 (GRCm39) |
T225I |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,631 (GRCm39) |
V311A |
probably benign |
Het |
Or4a76 |
T |
C |
2: 89,460,555 (GRCm39) |
E229G |
probably damaging |
Het |
Padi3 |
A |
T |
4: 140,522,928 (GRCm39) |
I348N |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,452,949 (GRCm39) |
V3958A |
probably damaging |
Het |
Ppargc1b |
C |
A |
18: 61,456,267 (GRCm39) |
C80F |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,128,674 (GRCm39) |
E590G |
probably benign |
Het |
Rbm47 |
T |
C |
5: 66,183,826 (GRCm39) |
E259G |
possibly damaging |
Het |
Rint1 |
A |
G |
5: 23,993,355 (GRCm39) |
*37W |
probably null |
Het |
Sacs |
G |
A |
14: 61,443,309 (GRCm39) |
R1785Q |
probably benign |
Het |
Samm50 |
T |
C |
15: 84,095,276 (GRCm39) |
C421R |
probably benign |
Het |
Scnn1b |
G |
T |
7: 121,511,254 (GRCm39) |
A314S |
probably damaging |
Het |
Sf3b3 |
C |
A |
8: 111,542,854 (GRCm39) |
V868L |
probably benign |
Het |
Sirt5 |
G |
T |
13: 43,530,327 (GRCm39) |
V136L |
probably benign |
Het |
Slc1a7 |
T |
C |
4: 107,850,237 (GRCm39) |
V116A |
probably damaging |
Het |
Slc24a4 |
G |
A |
12: 102,230,638 (GRCm39) |
V510M |
probably damaging |
Het |
Slc35f5 |
T |
C |
1: 125,517,628 (GRCm39) |
I116T |
probably benign |
Het |
Spata4 |
T |
C |
8: 55,053,899 (GRCm39) |
S22P |
probably benign |
Het |
Sqstm1 |
A |
G |
11: 50,091,725 (GRCm39) |
V324A |
probably benign |
Het |
Stmnd1 |
G |
A |
13: 46,453,079 (GRCm39) |
A252T |
probably benign |
Het |
Tbl1xr1 |
C |
A |
3: 22,258,150 (GRCm39) |
N470K |
possibly damaging |
Het |
Thap12 |
T |
C |
7: 98,364,323 (GRCm39) |
S164P |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,733,898 (GRCm39) |
Y315C |
probably damaging |
Het |
Tnni2 |
C |
A |
7: 141,997,672 (GRCm39) |
D102E |
probably damaging |
Het |
Trav7n-4 |
A |
C |
14: 53,328,849 (GRCm39) |
N16T |
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,665,906 (GRCm39) |
K900R |
probably benign |
Het |
Tspoap1 |
T |
A |
11: 87,668,839 (GRCm39) |
C1371S |
probably benign |
Het |
Tssk5 |
A |
G |
15: 76,257,156 (GRCm39) |
M242T |
possibly damaging |
Het |
Ubn2 |
A |
G |
6: 38,460,079 (GRCm39) |
I607V |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,284,865 (GRCm39) |
V551E |
probably benign |
Het |
Vipr2 |
A |
G |
12: 116,058,344 (GRCm39) |
N87S |
probably damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,485,132 (GRCm39) |
K787N |
probably damaging |
Het |
Wwc2 |
A |
T |
8: 48,353,859 (GRCm39) |
W92R |
probably damaging |
Het |
Zfp141 |
A |
G |
7: 42,125,639 (GRCm39) |
Y278H |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,844,887 (GRCm39) |
S686P |
probably benign |
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 |
IGL02302:Pcdh18
|
APN |
3 |
49,710,387 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTCGTTGCAAACAGGACC -3'
(R):5'- TCCCCAAAGGAGCTGAAAGTG -3'
Sequencing Primer
(F):5'- TCGTTGCAAACAGGACCATAATAAC -3'
(R):5'- CCCAAAGGAGCTGAAAGTGGTTTTC -3'
|
Posted On |
2022-04-18 |