Incidental Mutation 'R7848:Pcdh18'
| ID |
606719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh18
|
| Ensembl Gene |
ENSMUSG00000037892 |
| Gene Name |
protocadherin 18 |
| Synonyms |
PCDH68L |
| MMRRC Submission |
045902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49710446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 290
(S290T)
|
| 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: S290T
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: S290T
| 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 |
possibly damaging
Transcript: ENSMUST00000191794
AA Change: S290T
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: S290T
| 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 |
probably benign
Transcript: ENSMUST00000194603
|
| Meta Mutation Damage Score |
0.0982 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,340,007 (GRCm39) |
A2T |
probably damaging |
Het |
| Abca3 |
G |
T |
17: 24,603,506 (GRCm39) |
G566V |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,295,339 (GRCm39) |
N846K |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,335,707 (GRCm39) |
R714Q |
probably benign |
Het |
| Cbln1 |
T |
C |
8: 88,198,328 (GRCm39) |
T126A |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,346,123 (GRCm39) |
S446P |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,536 (GRCm39) |
Q676R |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,939 (GRCm39) |
S139P |
probably damaging |
Het |
| Col26a1 |
T |
C |
5: 136,775,907 (GRCm39) |
K349E |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,385 (GRCm39) |
I1174V |
unknown |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,973,557 (GRCm39) |
D64G |
possibly damaging |
Het |
| Dnajc15 |
T |
C |
14: 78,077,643 (GRCm39) |
H114R |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,224,961 (GRCm39) |
F1390S |
probably damaging |
Het |
| F5 |
T |
C |
1: 163,989,446 (GRCm39) |
I116T |
possibly damaging |
Het |
| Fam120b |
T |
C |
17: 15,626,036 (GRCm39) |
V463A |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,000 (GRCm39) |
M298V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,632,913 (GRCm39) |
M1197K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,689,760 (GRCm39) |
I127F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,596,728 (GRCm39) |
|
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,097,959 (GRCm39) |
V238E |
probably damaging |
Het |
| Gnpat |
C |
A |
8: 125,613,630 (GRCm39) |
Q626K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,835,902 (GRCm39) |
|
probably null |
Het |
| Gys2 |
G |
T |
6: 142,391,741 (GRCm39) |
S507* |
probably null |
Het |
| Ippk |
T |
A |
13: 49,596,972 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,196,548 (GRCm39) |
N623I |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,188 (GRCm39) |
F220S |
probably damaging |
Het |
| Kiz |
T |
A |
2: 146,731,100 (GRCm39) |
S197T |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,009,598 (GRCm39) |
N479S |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,091,301 (GRCm39) |
*60W |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,632,116 (GRCm39) |
N124S |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,724,621 (GRCm39) |
V373A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,683,232 (GRCm39) |
I11T |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,967,861 (GRCm39) |
Q967* |
probably null |
Het |
| Mthfd1l |
A |
G |
10: 4,033,739 (GRCm39) |
T709A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,188 (GRCm39) |
T939A |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,287,267 (GRCm39) |
H394Y |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,524,414 (GRCm39) |
N161K |
possibly damaging |
Het |
| Nr2c1 |
C |
T |
10: 94,026,508 (GRCm39) |
S461L |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,390,240 (GRCm39) |
E323G |
probably damaging |
Het |
| Nufip1 |
G |
A |
14: 76,351,661 (GRCm39) |
R172H |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,111,212 (GRCm39) |
T1705A |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,234,226 (GRCm39) |
L99P |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,861 (GRCm39) |
D189G |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,302 (GRCm39) |
N312I |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,188 (GRCm39) |
D1163G |
probably benign |
Het |
| Pklr |
T |
G |
3: 89,050,285 (GRCm39) |
I378S |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,136 (GRCm39) |
M712K |
probably benign |
Het |
| Rnase10 |
T |
C |
14: 51,246,970 (GRCm39) |
V116A |
possibly damaging |
Het |
| Scube3 |
T |
C |
17: 28,384,569 (GRCm39) |
L621P |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,280 (GRCm39) |
I51V |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,750 (GRCm39) |
T633A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,927,669 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,044,275 (GRCm39) |
I509N |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,359 (GRCm39) |
K443E |
probably damaging |
Het |
| Tmem98 |
T |
G |
11: 80,710,758 (GRCm39) |
V139G |
probably damaging |
Het |
| Trgv5 |
G |
A |
13: 19,376,849 (GRCm39) |
V99I |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,381,573 (GRCm39) |
E232G |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,253,146 (GRCm39) |
N39D |
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 |
|
|
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 |
|
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'- TCCAGGGGACATGAGATTTATGC -3'
(R):5'- CTCCATCCTGAAAATCAGCATTTC -3'
Sequencing Primer
(F):5'- CAGGTTTATTGTCATTGACATCCAC -3'
(R):5'- ATCAGCATTTCGGATTCCAACG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation