Incidental Mutation 'R6000:Pcdh18'
ID |
480763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
MMRRC Submission |
044179-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6000 (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 C
at 49708913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 801
(S801A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035931]
[ENSMUST00000191794]
|
AlphaFold |
Q8VHR0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035931
AA Change: S801A
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: S801A
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: S801A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141995 Gene: ENSMUSG00000037892 AA Change: S801A
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 |
unknown
Transcript: ENSMUST00000194603
AA Change: S334A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195086
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (64/64) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
Aoc1 |
A |
T |
6: 48,884,573 (GRCm39) |
T539S |
probably benign |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,296,050 (GRCm39) |
|
probably null |
Het |
Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
Klrb1c |
T |
G |
6: 128,761,120 (GRCm39) |
D169A |
probably damaging |
Het |
Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,341 (GRCm39) |
P319L |
probably damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,342 (GRCm39) |
P319S |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,387,242 (GRCm39) |
S706P |
probably benign |
Het |
Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
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 |
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'- GGAACTGCCTACTGTCATCTATC -3'
(R):5'- ATCCTACAACTGCAGGGTGG -3'
Sequencing Primer
(F):5'- GCCTACTGTCATCTATCAACGAC -3'
(R):5'- GTGGCAGAATCCACGTACCAG -3'
|
Posted On |
2017-06-26 |