Incidental Mutation 'R1875:Pcdh18'
ID |
211116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
MMRRC Submission |
039897-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1875 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49709154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 720
(F720L)
|
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: F720L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: F720L
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: F720L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141995 Gene: ENSMUSG00000037892 AA Change: F720L
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
AA Change: F253L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195086
|
Meta Mutation Damage Score |
0.1918 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
98% (85/87) |
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 |
Abca14 |
A |
T |
7: 119,847,190 (GRCm39) |
M685L |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Adam26a |
C |
A |
8: 44,022,888 (GRCm39) |
V201L |
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,229,277 (GRCm39) |
D947E |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,410 (GRCm39) |
|
probably null |
Het |
Apol11a |
C |
A |
15: 77,397,766 (GRCm39) |
T39N |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,839,501 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,919,815 (GRCm39) |
D772G |
probably damaging |
Het |
Atp11b |
T |
C |
3: 35,893,296 (GRCm39) |
L883P |
probably damaging |
Het |
Btnl10 |
T |
A |
11: 58,814,586 (GRCm39) |
I422N |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,056,232 (GRCm39) |
K547E |
possibly damaging |
Het |
Cdh2 |
T |
A |
18: 16,757,934 (GRCm39) |
L549F |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
Cimap2 |
G |
A |
4: 106,470,453 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
C |
8: 15,979,101 (GRCm39) |
K2828E |
probably damaging |
Het |
Ddah2 |
T |
C |
17: 35,279,821 (GRCm39) |
F137S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,847 (GRCm39) |
I299T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,843,151 (GRCm39) |
I9T |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,036,290 (GRCm39) |
E242G |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,410,335 (GRCm39) |
H641R |
possibly damaging |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,335,209 (GRCm39) |
M408V |
probably benign |
Het |
Fmo4 |
T |
C |
1: 162,631,187 (GRCm39) |
N260S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,249,597 (GRCm39) |
E136G |
probably damaging |
Het |
Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
Gm8258 |
A |
G |
5: 104,924,320 (GRCm39) |
|
noncoding transcript |
Het |
Gpr68 |
T |
A |
12: 100,845,049 (GRCm39) |
D165V |
probably damaging |
Het |
Htt |
T |
A |
5: 34,951,456 (GRCm39) |
M139K |
probably benign |
Het |
Jup |
A |
G |
11: 100,263,120 (GRCm39) |
|
probably null |
Het |
Kifc5b |
G |
A |
17: 27,136,264 (GRCm39) |
|
probably null |
Het |
Krba1 |
T |
A |
6: 48,390,983 (GRCm39) |
|
probably null |
Het |
Lamp1 |
G |
A |
8: 13,217,257 (GRCm39) |
G89R |
probably damaging |
Het |
Lrrc17 |
C |
T |
5: 21,765,650 (GRCm39) |
S44F |
possibly damaging |
Het |
Mdga1 |
T |
C |
17: 30,071,581 (GRCm39) |
T347A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,019,025 (GRCm39) |
W66R |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,314,026 (GRCm39) |
Y73H |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,364 (GRCm39) |
I335N |
possibly damaging |
Het |
Mylk3 |
A |
G |
8: 86,079,494 (GRCm39) |
I388T |
probably damaging |
Het |
Myo15a |
C |
T |
11: 60,398,354 (GRCm39) |
R2775W |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
Ndrg1 |
T |
C |
15: 66,802,940 (GRCm39) |
T137A |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,052,454 (GRCm39) |
N381K |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,115,996 (GRCm39) |
|
probably benign |
Het |
Or6b6 |
G |
A |
7: 106,571,389 (GRCm39) |
S54F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,735,451 (GRCm39) |
D111G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,127,051 (GRCm39) |
E103G |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
Phf3 |
T |
C |
1: 30,869,704 (GRCm39) |
E448G |
possibly damaging |
Het |
Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 116,017,206 (GRCm39) |
S184T |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,794,670 (GRCm39) |
|
probably benign |
Het |
Plch2 |
G |
A |
4: 155,082,965 (GRCm39) |
S485F |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,955,045 (GRCm39) |
|
probably null |
Het |
Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
Prl8a2 |
T |
C |
13: 27,535,037 (GRCm39) |
V103A |
probably benign |
Het |
Psg23 |
G |
A |
7: 18,344,375 (GRCm39) |
T360I |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,279,469 (GRCm39) |
I323N |
probably damaging |
Het |
Rsbn1l |
C |
T |
5: 21,156,696 (GRCm39) |
E30K |
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,118,145 (GRCm39) |
L64F |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,502 (GRCm39) |
D392G |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,020,725 (GRCm39) |
I540L |
probably benign |
Het |
Slc37a4 |
A |
G |
9: 44,312,808 (GRCm39) |
T321A |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,091,949 (GRCm39) |
L438S |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,597,487 (GRCm39) |
G1390R |
possibly damaging |
Het |
Spmap2l |
A |
T |
5: 77,202,431 (GRCm39) |
K284M |
probably benign |
Het |
Synj2 |
G |
T |
17: 6,078,825 (GRCm39) |
A740S |
possibly damaging |
Het |
Tigd4 |
A |
C |
3: 84,502,394 (GRCm39) |
D437A |
probably benign |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem106a |
CAGCTCAACACGACGGTA |
CAGCTCAACACGACGGTAAGCTCAACACGACGGTA |
11: 101,477,204 (GRCm39) |
|
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,812,383 (GRCm39) |
C1313* |
probably null |
Het |
Tmem86b |
A |
T |
7: 4,632,698 (GRCm39) |
I47N |
possibly damaging |
Het |
Tspan13 |
T |
C |
12: 36,070,550 (GRCm39) |
|
probably null |
Het |
Vps54 |
A |
G |
11: 21,250,251 (GRCm39) |
T396A |
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,344,096 (GRCm39) |
|
probably null |
Het |
Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
Het |
Zfp809 |
A |
T |
9: 22,150,027 (GRCm39) |
R175* |
probably null |
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 |
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'- ACTGTTGAGTGACTGGTGAC -3'
(R):5'- ATCATCCAGGACAAGGGCAG -3'
Sequencing Primer
(F):5'- GCGGCTGCCCATTTGTC -3'
(R):5'- AGGGCAGTCCTCCTCTG -3'
|
Posted On |
2014-06-30 |