Incidental Mutation 'R8169:Pcdh18'
ID |
633938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh18
|
Ensembl Gene |
ENSMUSG00000037892 |
Gene Name |
protocadherin 18 |
Synonyms |
PCDH68L |
MMRRC Submission |
067595-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8169 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
49697745-49711723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49699684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 926
(H926L)
|
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: H926L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039245 Gene: ENSMUSG00000037892 AA Change: H926L
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (80/81) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
C |
A |
5: 139,349,812 (GRCm39) |
G79V |
probably damaging |
Het |
4930562C15Rik |
T |
A |
16: 4,684,082 (GRCm39) |
Y226N |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Bach1 |
G |
A |
16: 87,519,390 (GRCm39) |
C560Y |
possibly damaging |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Casq2 |
G |
T |
3: 102,017,628 (GRCm39) |
A103S |
possibly damaging |
Het |
Cfap100 |
A |
G |
6: 90,394,656 (GRCm39) |
F57S |
|
Het |
Clca3a2 |
A |
T |
3: 144,783,653 (GRCm39) |
L654Q |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
Cplane2 |
A |
G |
4: 140,945,530 (GRCm39) |
H127R |
probably damaging |
Het |
Crtc2 |
G |
C |
3: 90,170,883 (GRCm39) |
G652A |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,475,636 (GRCm39) |
D401G |
probably damaging |
Het |
Dars1 |
T |
C |
1: 128,304,002 (GRCm39) |
N242D |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,877,946 (GRCm39) |
L2677P |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,171,330 (GRCm39) |
A3T |
probably benign |
Het |
Dpep2 |
C |
T |
8: 106,722,849 (GRCm39) |
V60I |
|
Het |
Eeig1 |
T |
C |
2: 32,453,760 (GRCm39) |
I203T |
probably benign |
Het |
Ehmt2 |
T |
A |
17: 35,122,339 (GRCm39) |
I302N |
probably benign |
Het |
Eif3a |
C |
T |
19: 60,750,628 (GRCm39) |
R1309Q |
unknown |
Het |
Eno4 |
T |
A |
19: 58,935,084 (GRCm39) |
Y100N |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,349,602 (GRCm39) |
|
probably null |
Het |
Fbxw14 |
A |
T |
9: 109,106,284 (GRCm39) |
I251K |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,784,919 (GRCm39) |
|
probably null |
Het |
Foxm1 |
A |
C |
6: 128,348,671 (GRCm39) |
|
probably null |
Het |
Fscn3 |
T |
A |
6: 28,430,328 (GRCm39) |
I166N |
possibly damaging |
Het |
Gdpd4 |
G |
T |
7: 97,621,335 (GRCm39) |
V193L |
probably benign |
Het |
Gnpat |
T |
G |
8: 125,606,869 (GRCm39) |
C352G |
probably benign |
Het |
H2-Q7 |
T |
A |
17: 35,658,910 (GRCm39) |
Y120* |
probably null |
Het |
Klri1 |
G |
A |
6: 129,694,070 (GRCm39) |
R6C |
probably benign |
Het |
Kmo |
T |
C |
1: 175,476,729 (GRCm39) |
V154A |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,559,685 (GRCm39) |
L1031P |
probably damaging |
Het |
Lrrc14b |
T |
G |
13: 74,511,286 (GRCm39) |
T265P |
possibly damaging |
Het |
Lrrc2 |
C |
T |
9: 110,809,954 (GRCm39) |
T330I |
probably benign |
Het |
Lyn |
T |
A |
4: 3,783,050 (GRCm39) |
S428T |
probably damaging |
Het |
Lypd10 |
T |
A |
7: 24,412,000 (GRCm39) |
M60K |
probably benign |
Het |
Mfsd8 |
T |
A |
3: 40,791,550 (GRCm39) |
M59L |
probably benign |
Het |
Mok |
T |
A |
12: 110,774,799 (GRCm39) |
Q341L |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,932,072 (GRCm39) |
T705A |
unknown |
Het |
Myh3 |
C |
A |
11: 66,979,856 (GRCm39) |
N598K |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,019,931 (GRCm39) |
I139M |
probably benign |
Het |
Or11g25 |
T |
C |
14: 50,723,692 (GRCm39) |
V259A |
probably benign |
Het |
Or3a10 |
T |
A |
11: 73,935,707 (GRCm39) |
Q131L |
possibly damaging |
Het |
Or4b13 |
G |
A |
2: 90,082,442 (GRCm39) |
R297* |
probably null |
Het |
Or51g2 |
A |
G |
7: 102,622,545 (GRCm39) |
L218P |
probably damaging |
Het |
Or52n2b |
A |
T |
7: 104,565,619 (GRCm39) |
Y295N |
possibly damaging |
Het |
Osbpl7 |
G |
A |
11: 96,945,676 (GRCm39) |
S312N |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,977,093 (GRCm39) |
L323P |
unknown |
Het |
Pcm1 |
T |
G |
8: 41,763,153 (GRCm39) |
S1460R |
possibly damaging |
Het |
Pdha2 |
A |
G |
3: 140,917,155 (GRCm39) |
S118P |
possibly damaging |
Het |
Pdss1 |
A |
T |
2: 22,791,824 (GRCm39) |
Y86F |
probably benign |
Het |
Ppargc1a |
A |
T |
5: 51,631,026 (GRCm39) |
D534E |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,102,455 (GRCm39) |
K2538R |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,418,351 (GRCm39) |
I1675N |
probably damaging |
Het |
Rgma |
C |
T |
7: 73,025,630 (GRCm39) |
P3L |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,940,768 (GRCm39) |
|
probably null |
Het |
Sema4g |
C |
T |
19: 44,987,410 (GRCm39) |
R519W |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,971 (GRCm39) |
F139L |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,696 (GRCm39) |
I198T |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,280,373 (GRCm39) |
V1007A |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,147,783 (GRCm39) |
Y17C |
possibly damaging |
Het |
Tex261 |
C |
A |
6: 83,751,999 (GRCm39) |
|
probably null |
Het |
Timmdc1 |
T |
A |
16: 38,331,148 (GRCm39) |
T128S |
probably benign |
Het |
Tmem120b |
C |
A |
5: 123,237,999 (GRCm39) |
Y96* |
probably null |
Het |
Tmem196 |
T |
A |
12: 119,982,311 (GRCm39) |
F182I |
possibly damaging |
Het |
Tnxb |
G |
A |
17: 34,918,181 (GRCm39) |
V2365M |
possibly damaging |
Het |
Tph1 |
T |
C |
7: 46,303,233 (GRCm39) |
|
silent |
Het |
Trmt9b |
A |
T |
8: 36,978,857 (GRCm39) |
K153N |
probably damaging |
Het |
Trpc1 |
G |
A |
9: 95,592,323 (GRCm39) |
Q551* |
probably null |
Het |
Tubgcp3 |
T |
C |
8: 12,666,099 (GRCm39) |
N828D |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,108,933 (GRCm39) |
G478W |
probably damaging |
Het |
Usp15 |
T |
A |
10: 122,961,798 (GRCm39) |
T627S |
|
Het |
Vmn1r115 |
A |
T |
7: 20,578,144 (GRCm39) |
I256N |
probably damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,447,310 (GRCm39) |
K585N |
probably benign |
Het |
Vsir |
G |
T |
10: 60,194,047 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,343,543 (GRCm39) |
D1928G |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,249,846 (GRCm39) |
Y672C |
probably damaging |
Het |
Yrdc |
A |
G |
4: 124,744,880 (GRCm39) |
S105G |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,254,616 (GRCm39) |
N1403K |
probably damaging |
Het |
Zfp160 |
A |
T |
17: 21,247,298 (GRCm39) |
H616L |
probably damaging |
Het |
Zfp637 |
T |
A |
6: 117,822,252 (GRCm39) |
F127I |
probably damaging |
Het |
Zfp69 |
G |
T |
4: 120,787,731 (GRCm39) |
A528D |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,189,645 (GRCm39) |
L342Q |
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 |
R7848:Pcdh18
|
UTSW |
3 |
49,710,446 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- TGCTAGAGTCTCCCGAATCC -3'
(R):5'- GCCTATCTAATGTGCCTAACAACAG -3'
Sequencing Primer
(F):5'- GGAGTCCTTCCCAAAAGTGG -3'
(R):5'- TCTAATGTGCCTAACAACAGATTAAC -3'
|
Posted On |
2020-07-13 |