Incidental Mutation 'R7413:Pcdh18'
ID |
575199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7413 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 49699232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1077
(S1077R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039245
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035931]
[ENSMUST00000191794]
|
AlphaFold |
Q8VHR0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035931
AA Change: S1077R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: S1077R
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
|
SMART Domains |
Protein: ENSMUSP00000141995 Gene: ENSMUSG00000037892
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
Agbl4 |
A |
T |
4: 111,514,495 (GRCm39) |
D502V |
probably benign |
Het |
Akap5 |
T |
A |
12: 76,375,678 (GRCm39) |
V370E |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,605,288 (GRCm39) |
C1844R |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,831,542 (GRCm39) |
K1191E |
probably benign |
Het |
Bsn |
C |
T |
9: 108,016,690 (GRCm39) |
R107Q |
possibly damaging |
Het |
Catsperb |
G |
T |
12: 101,447,307 (GRCm39) |
R269L |
probably damaging |
Het |
Ccer1 |
T |
C |
10: 97,529,804 (GRCm39) |
S156P |
unknown |
Het |
Cdh16 |
C |
T |
8: 105,346,572 (GRCm39) |
A241T |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,172,972 (GRCm39) |
S1367P |
probably damaging |
Het |
Cds2 |
C |
T |
2: 132,135,235 (GRCm39) |
P42L |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,245,431 (GRCm39) |
Y61H |
possibly damaging |
Het |
Dclre1a |
G |
A |
19: 56,531,082 (GRCm39) |
P755S |
probably damaging |
Het |
Ddi1 |
A |
T |
9: 6,265,670 (GRCm39) |
M233K |
probably damaging |
Het |
Dpp4 |
T |
C |
2: 62,187,333 (GRCm39) |
Y474C |
probably damaging |
Het |
Epha7 |
T |
A |
4: 28,871,838 (GRCm39) |
M389K |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,033,457 (GRCm39) |
F181S |
probably damaging |
Het |
Epor |
G |
A |
9: 21,874,776 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
C |
A |
13: 62,985,067 (GRCm39) |
V285L |
probably benign |
Het |
Flnc |
A |
T |
6: 29,452,258 (GRCm39) |
D1694V |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,882,339 (GRCm39) |
M98K |
probably benign |
Het |
Gcm2 |
A |
G |
13: 41,259,230 (GRCm39) |
S80P |
probably damaging |
Het |
Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
Gne |
T |
C |
4: 44,044,857 (GRCm39) |
N426D |
probably benign |
Het |
Ifne |
A |
T |
4: 88,797,840 (GRCm39) |
*193R |
probably null |
Het |
Igf2r |
G |
T |
17: 12,917,115 (GRCm39) |
S1595* |
probably null |
Het |
Krt26 |
C |
T |
11: 99,225,887 (GRCm39) |
M226I |
probably benign |
Het |
Lars2 |
G |
A |
9: 123,288,568 (GRCm39) |
V805I |
probably benign |
Het |
Lrrc57 |
C |
A |
2: 120,436,577 (GRCm39) |
R177L |
probably damaging |
Het |
Lrrn1 |
A |
G |
6: 107,546,083 (GRCm39) |
E627G |
probably benign |
Het |
Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
T |
17: 30,069,647 (GRCm39) |
V133E |
probably damaging |
Het |
Med12l |
A |
G |
3: 58,998,971 (GRCm39) |
T644A |
probably benign |
Het |
Meis1 |
T |
A |
11: 18,938,357 (GRCm39) |
D218V |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,768,970 (GRCm39) |
E1439G |
|
Het |
Naa12 |
T |
C |
18: 80,254,874 (GRCm39) |
V56A |
possibly damaging |
Het |
Nckipsd |
G |
A |
9: 108,691,280 (GRCm39) |
V401I |
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,092,669 (GRCm39) |
I655V |
probably damaging |
Het |
Oprm1 |
A |
T |
10: 6,778,919 (GRCm39) |
I107F |
probably damaging |
Het |
Or4k42 |
A |
C |
2: 111,319,933 (GRCm39) |
I190R |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,057 (GRCm39) |
I48F |
probably benign |
Het |
Or5p51 |
T |
C |
7: 107,444,721 (GRCm39) |
D73G |
probably damaging |
Het |
Osbpl7 |
T |
C |
11: 96,945,704 (GRCm39) |
|
probably null |
Het |
Pcdhb16 |
A |
T |
18: 37,611,975 (GRCm39) |
K312* |
probably null |
Het |
Plekhh2 |
A |
T |
17: 84,873,724 (GRCm39) |
E336D |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,165,076 (GRCm39) |
S49T |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,052,927 (GRCm39) |
I1035V |
probably benign |
Het |
Rlf |
C |
T |
4: 121,007,297 (GRCm39) |
G671D |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,607,404 (GRCm39) |
Q275R |
probably benign |
Het |
Slc10a1 |
G |
T |
12: 81,007,396 (GRCm39) |
F128L |
probably benign |
Het |
Slitrk1 |
A |
T |
14: 109,149,357 (GRCm39) |
Y451* |
probably null |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Stambpl1 |
G |
C |
19: 34,204,116 (GRCm39) |
G69R |
probably damaging |
Het |
Surf4 |
G |
T |
2: 26,814,455 (GRCm39) |
R149S |
probably benign |
Het |
Tmem151a |
T |
C |
19: 5,132,702 (GRCm39) |
Y168C |
probably damaging |
Het |
Ttc39c |
A |
G |
18: 12,861,746 (GRCm39) |
K416R |
possibly damaging |
Het |
Tut4 |
T |
C |
4: 108,406,533 (GRCm39) |
I1367T |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,932,309 (GRCm39) |
I472T |
probably damaging |
Het |
Vmn1r212 |
A |
C |
13: 23,067,718 (GRCm39) |
L205R |
probably damaging |
Het |
Wscd2 |
T |
C |
5: 113,715,402 (GRCm39) |
I414T |
probably benign |
Het |
Zfp1005 |
A |
C |
2: 150,108,081 (GRCm39) |
T14P |
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 |
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 |
|
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'- AGCTAAAGTCGCCTAGCTCTGG -3'
(R):5'- AATGAGCAGTGTGTTCCAGC -3'
Sequencing Primer
(F):5'- CTCTGGCGGACGTCTTGAAG -3'
(R):5'- AGTGTGTTCCAGCGCCTTC -3'
|
Posted On |
2019-10-07 |