Incidental Mutation 'R6220:Pcdh18'
| ID |
503936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh18
|
| Ensembl Gene |
ENSMUSG00000037892 |
| Gene Name |
protocadherin 18 |
| Synonyms |
PCDH68L |
| MMRRC Submission |
044352-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6220 (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 G
at 49699700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 921
(C921R)
|
| 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: C921R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: C921R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193600
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,135,578 (GRCm39) |
D160G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,780,505 (GRCm39) |
F15S |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,625 (GRCm39) |
S153C |
probably damaging |
Het |
| Afp |
A |
T |
5: 90,652,269 (GRCm39) |
D420V |
possibly damaging |
Het |
| Ak9 |
T |
A |
10: 41,246,095 (GRCm39) |
H729Q |
unknown |
Het |
| Armh3 |
T |
C |
19: 45,834,554 (GRCm39) |
E618G |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bcr |
A |
G |
10: 74,898,124 (GRCm39) |
T423A |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ctns |
T |
C |
11: 73,083,954 (GRCm39) |
T23A |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,758,754 (GRCm39) |
N332K |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,126,727 (GRCm39) |
I1344N |
probably damaging |
Het |
| Elovl3 |
A |
T |
19: 46,122,939 (GRCm39) |
M172L |
probably benign |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,390,352 (GRCm39) |
N313K |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,437,947 (GRCm39) |
T716K |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10645 |
A |
G |
8: 83,892,386 (GRCm39) |
|
probably benign |
Het |
| Gm10735 |
T |
C |
13: 113,178,030 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,521,134 (GRCm39) |
L388P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,341,070 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,112 (GRCm39) |
L542H |
probably damaging |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,338 (GRCm39) |
N96I |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,439,803 (GRCm39) |
T182A |
probably benign |
Het |
| Jph4 |
T |
C |
14: 55,347,542 (GRCm39) |
E421G |
probably benign |
Het |
| Lrrc45 |
T |
C |
11: 120,610,353 (GRCm39) |
I488T |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,075,083 (GRCm39) |
I471T |
probably benign |
Het |
| Ms4a2 |
A |
T |
19: 11,594,927 (GRCm39) |
D96E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,547 (GRCm39) |
N68K |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,905,373 (GRCm39) |
M2075T |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,160,984 (GRCm39) |
K2229R |
probably null |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,987 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
C |
A |
11: 71,033,164 (GRCm39) |
S10I |
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,375,142 (GRCm39) |
T487S |
probably benign |
Het |
| Nrxn1 |
G |
C |
17: 91,395,904 (GRCm39) |
T84R |
probably benign |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,531 (GRCm39) |
Y200C |
probably damaging |
Het |
| Pknox1 |
A |
T |
17: 31,822,177 (GRCm39) |
R315* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,410 (GRCm39) |
W726* |
probably null |
Het |
| Rassf8 |
G |
A |
6: 145,762,859 (GRCm39) |
R402H |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,698,775 (GRCm39) |
Y1091N |
probably damaging |
Het |
| Riok3 |
T |
G |
18: 12,282,608 (GRCm39) |
V349G |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,174,110 (GRCm39) |
V15E |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,788,268 (GRCm39) |
Y1323F |
possibly damaging |
Het |
| Rspry1 |
T |
C |
8: 95,385,378 (GRCm39) |
C437R |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,875 (GRCm39) |
Y996N |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,091,313 (GRCm39) |
I1011M |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,274,800 (GRCm39) |
M295K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,113,134 (GRCm39) |
D605G |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,947 (GRCm39) |
W252* |
probably null |
Het |
| Tes |
T |
A |
6: 17,086,195 (GRCm39) |
C29* |
probably null |
Het |
| Thsd4 |
A |
G |
9: 59,890,030 (GRCm39) |
W856R |
probably damaging |
Het |
| Treml4 |
A |
T |
17: 48,571,876 (GRCm39) |
D93V |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,300 (GRCm39) |
T218A |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,973 (GRCm39) |
D128G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,819 (GRCm39) |
W1746R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,434 (GRCm39) |
I357V |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,807 (GRCm39) |
D86E |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,377 (GRCm39) |
H694Q |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,927,141 (GRCm39) |
F341L |
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 |
|
R6000:Pcdh18
|
UTSW |
3 |
49,708,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGCTAGAGTCTCCCGAATCC -3'
(R):5'- CGTAGCCTATCTAATGTGCCTAAC -3'
Sequencing Primer
(F):5'- GGAGTCCTTCCCAAAAGTGG -3'
(R):5'- GCCTATCTAATGTGCCTAACAACAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation