Incidental Mutation 'R0196:Pcdh18'
ID |
23417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
MMRRC Submission |
038455-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 49711147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035931]
[ENSMUST00000191794]
|
AlphaFold |
Q8VHR0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035931
AA Change: L56*
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: L56*
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 null
Transcript: ENSMUST00000191794
AA Change: L56*
|
SMART Domains |
Protein: ENSMUSP00000141995 Gene: ENSMUSG00000037892 AA Change: L56*
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 null
Transcript: ENSMUST00000194603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195086
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,446,591 (GRCm39) |
|
probably benign |
Het |
Aass |
G |
A |
6: 23,109,519 (GRCm39) |
P317L |
probably damaging |
Het |
Abca12 |
T |
A |
1: 71,298,972 (GRCm39) |
N2313I |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,594 (GRCm39) |
I46T |
probably benign |
Het |
Adipoq |
T |
G |
16: 22,965,393 (GRCm39) |
|
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,070 (GRCm39) |
D92E |
probably benign |
Het |
Asb15 |
G |
A |
6: 24,564,392 (GRCm39) |
R282Q |
probably damaging |
Het |
Bag6 |
G |
C |
17: 35,363,239 (GRCm39) |
G693A |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,887,282 (GRCm39) |
I870T |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,766,463 (GRCm39) |
K356R |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,076 (GRCm39) |
Q525R |
possibly damaging |
Het |
Cd4 |
T |
C |
6: 124,844,769 (GRCm39) |
R339G |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,917,066 (GRCm39) |
S350P |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,249,509 (GRCm39) |
S469T |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,342 (GRCm39) |
S279T |
probably benign |
Het |
Clnk |
T |
A |
5: 38,927,282 (GRCm39) |
N66Y |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,142,503 (GRCm39) |
T64S |
probably benign |
Het |
Crtc1 |
T |
C |
8: 70,838,871 (GRCm39) |
D599G |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,000,795 (GRCm39) |
I363S |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,911,139 (GRCm39) |
I4519F |
possibly damaging |
Het |
Dner |
T |
A |
1: 84,348,553 (GRCm39) |
I716F |
probably damaging |
Het |
Dsel |
T |
G |
1: 111,789,333 (GRCm39) |
T401P |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,861,746 (GRCm39) |
D1175G |
probably benign |
Het |
Ephb3 |
A |
T |
16: 21,036,804 (GRCm39) |
N343I |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,768,070 (GRCm39) |
F974I |
probably benign |
Het |
Gfi1b |
T |
C |
2: 28,503,786 (GRCm39) |
Y138C |
probably damaging |
Het |
Gm11168 |
T |
A |
9: 3,005,175 (GRCm39) |
L6H |
probably benign |
Het |
Grb10 |
A |
C |
11: 11,895,583 (GRCm39) |
V247G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,514 (GRCm39) |
|
probably null |
Het |
Hars2 |
C |
T |
18: 36,922,257 (GRCm39) |
Q291* |
probably null |
Het |
Hyal4 |
G |
T |
6: 24,756,220 (GRCm39) |
W146L |
probably damaging |
Het |
Il22ra1 |
C |
T |
4: 135,461,556 (GRCm39) |
T107I |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,209,540 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,450 (GRCm39) |
S119P |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,636 (GRCm39) |
V137A |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,018,545 (GRCm39) |
E226V |
probably damaging |
Het |
Mcemp1 |
A |
T |
8: 3,718,201 (GRCm39) |
Q165L |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,265,453 (GRCm39) |
K82M |
probably benign |
Het |
Mpzl3 |
A |
G |
9: 44,973,458 (GRCm39) |
T66A |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,287,788 (GRCm39) |
V143I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,815,684 (GRCm39) |
|
probably null |
Het |
Ncr1 |
G |
T |
7: 4,343,972 (GRCm39) |
C153F |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,359,595 (GRCm39) |
M1411K |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,469,098 (GRCm39) |
V786D |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,925,351 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,963,694 (GRCm39) |
Y1093N |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or1e32 |
A |
T |
11: 73,705,731 (GRCm39) |
M59K |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
Oxa1l |
T |
C |
14: 54,600,944 (GRCm39) |
I139T |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,235 (GRCm39) |
N583Y |
probably damaging |
Het |
Pcnp |
C |
T |
16: 55,844,896 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,289,563 (GRCm39) |
D612E |
probably benign |
Het |
Pi4kb |
T |
C |
3: 94,906,261 (GRCm39) |
S8P |
probably damaging |
Het |
Pikfyve |
T |
G |
1: 65,295,231 (GRCm39) |
V1454G |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,878,695 (GRCm39) |
N246D |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,243 (GRCm39) |
|
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,320,390 (GRCm39) |
Y523H |
probably damaging |
Het |
Rpf1 |
T |
A |
3: 146,213,904 (GRCm39) |
E231V |
possibly damaging |
Het |
Slc16a10 |
C |
T |
10: 39,932,611 (GRCm39) |
E317K |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,078 (GRCm39) |
I435F |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,344,683 (GRCm39) |
D629G |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,966,463 (GRCm39) |
I472T |
probably benign |
Het |
Trp53 |
A |
G |
11: 69,479,506 (GRCm39) |
Y202C |
probably damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,403 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
C |
T |
1: 88,140,277 (GRCm39) |
A185V |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,939,578 (GRCm39) |
D655G |
probably damaging |
Het |
Vmn1r215 |
C |
T |
13: 23,260,254 (GRCm39) |
T98I |
probably damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,041,879 (GRCm39) |
T426N |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,614,835 (GRCm39) |
N852D |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,889,580 (GRCm39) |
D654E |
probably damaging |
Het |
Yju2 |
C |
A |
17: 56,271,653 (GRCm39) |
D191E |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,738,065 (GRCm39) |
A849P |
possibly damaging |
Het |
Zfp954 |
C |
T |
7: 7,118,390 (GRCm39) |
V385M |
probably damaging |
Het |
Zmynd15 |
A |
G |
11: 70,355,052 (GRCm39) |
T350A |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGGCAGAGTGAGCACATCAAAC -3'
(R):5'- GAAGGGATTGCTGGGCTCTTCTAAC -3'
Sequencing Primer
(F):5'- GAGTGAGCACATCAAACTCTATCG -3'
(R):5'- TTCTAACTCGCCCTGAGAAGG -3'
|
Posted On |
2013-04-16 |