Incidental Mutation 'R0372:Pcdh20'
| ID |
30560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh20
|
| Ensembl Gene |
ENSMUSG00000050505 |
| Gene Name |
protocadherin 20 |
| Synonyms |
PCDH13, C630015B17Rik |
| MMRRC Submission |
038578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
88702183-88708832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88706439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 287
(Y287C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061628]
[ENSMUST00000192557]
|
| AlphaFold |
Q8BIZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061628
AA Change: Y287C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: Y287C
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
108 |
208 |
9.02e-1 |
SMART |
|
CA
|
233 |
319 |
6.63e-16 |
SMART |
|
CA
|
343 |
425 |
9.94e-2 |
SMART |
|
CA
|
455 |
534 |
7.48e-3 |
SMART |
|
CA
|
558 |
638 |
5.46e-26 |
SMART |
|
CA
|
662 |
741 |
7.2e-26 |
SMART |
|
CA
|
768 |
852 |
9.6e-13 |
SMART |
|
low complexity region
|
860 |
871 |
N/A |
INTRINSIC |
|
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192557
AA Change: Y287C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: Y287C
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
108 |
208 |
9.02e-1 |
SMART |
|
CA
|
233 |
319 |
6.63e-16 |
SMART |
|
CA
|
343 |
425 |
9.94e-2 |
SMART |
|
CA
|
455 |
534 |
7.48e-3 |
SMART |
|
CA
|
558 |
638 |
5.46e-26 |
SMART |
|
CA
|
662 |
741 |
7.2e-26 |
SMART |
|
CA
|
768 |
852 |
9.6e-13 |
SMART |
|
low complexity region
|
860 |
871 |
N/A |
INTRINSIC |
|
transmembrane domain
|
890 |
912 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9581 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
97% (70/72) |
| MGI Phenotype |
FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in cell adhesion in the nervous system and has been shown to be specifically expressed in newly differentiated olfactory sensory neurons and their axons during development. In adult mice, the expression of this protein in the olfactory system is more restricted but shows a gender difference with higher expression in the male than in the female. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
A |
14: 64,210,931 (GRCm39) |
Q99L |
probably damaging |
Het |
| Abca2 |
A |
G |
2: 25,327,365 (GRCm39) |
Y641C |
probably damaging |
Het |
| Abhd10 |
A |
G |
16: 45,557,254 (GRCm39) |
|
probably null |
Het |
| Acan |
G |
T |
7: 78,750,349 (GRCm39) |
A1707S |
probably benign |
Het |
| Ankrd61 |
T |
A |
5: 143,827,993 (GRCm39) |
R284S |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,559,401 (GRCm39) |
K258E |
probably damaging |
Het |
| Arl6ip6 |
T |
G |
2: 53,092,933 (GRCm39) |
F153V |
probably damaging |
Het |
| Atp2c2 |
C |
A |
8: 120,484,180 (GRCm39) |
F930L |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,703,309 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,159 (GRCm39) |
S16G |
probably damaging |
Het |
| Axin2 |
T |
A |
11: 108,814,936 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,656,981 (GRCm39) |
D282E |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,201 (GRCm39) |
V191D |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,725,957 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,607,552 (GRCm39) |
C367S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,091 (GRCm39) |
V472M |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,479,817 (GRCm39) |
I8N |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,935,712 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,756,629 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
C |
T |
19: 46,274,143 (GRCm39) |
P1726S |
probably benign |
Het |
| Hal |
A |
G |
10: 93,343,415 (GRCm39) |
|
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,939,766 (GRCm39) |
I671V |
possibly damaging |
Het |
| Ifnab |
A |
G |
4: 88,609,071 (GRCm39) |
S132P |
probably benign |
Het |
| Ing5 |
T |
C |
1: 93,740,142 (GRCm39) |
I70T |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,758,193 (GRCm39) |
N228S |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,458,185 (GRCm39) |
I523F |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,565 (GRCm39) |
F328S |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,316,950 (GRCm39) |
I34F |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,348 (GRCm39) |
I491N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,155,489 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,428,005 (GRCm39) |
P523T |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,620,810 (GRCm39) |
D3556V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,365,387 (GRCm39) |
H262L |
probably benign |
Het |
| Lrrc27 |
T |
A |
7: 138,806,103 (GRCm39) |
I256K |
probably benign |
Het |
| Lrrc47 |
G |
A |
4: 154,104,089 (GRCm39) |
R523K |
probably benign |
Het |
| Lrrc71 |
A |
T |
3: 87,653,084 (GRCm39) |
S111T |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
| Mphosph10 |
G |
T |
7: 64,038,603 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,148,657 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
A |
T |
5: 34,048,895 (GRCm39) |
M1140L |
probably damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,661,155 (GRCm39) |
M440T |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,259 (GRCm39) |
L424Q |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,450 (GRCm39) |
V134A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,785,097 (GRCm39) |
F410L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,932 (GRCm39) |
E82G |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,142,787 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
G |
A |
6: 54,593,743 (GRCm39) |
|
probably null |
Het |
| Ppbp |
C |
T |
5: 90,917,202 (GRCm39) |
T93M |
possibly damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,994,891 (GRCm39) |
T810M |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,872 (GRCm39) |
N418S |
possibly damaging |
Het |
| Rnf20 |
C |
G |
4: 49,650,176 (GRCm39) |
R582G |
possibly damaging |
Het |
| Serpine2 |
T |
C |
1: 79,799,147 (GRCm39) |
I36V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,529 (GRCm39) |
V175E |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,213,673 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spg11 |
GCC |
G |
2: 121,889,928 (GRCm39) |
|
probably null |
Het |
| Tecrl |
C |
T |
5: 83,442,506 (GRCm39) |
C189Y |
probably damaging |
Het |
| Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
| Thnsl2 |
T |
C |
6: 71,116,774 (GRCm39) |
Y126C |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,171,752 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
C |
T |
3: 88,463,276 (GRCm39) |
S147L |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,117 (GRCm39) |
C17S |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,026,417 (GRCm39) |
Q505L |
probably benign |
Het |
| Zfp386 |
T |
C |
12: 116,018,436 (GRCm39) |
M35T |
possibly damaging |
Het |
| Zfp777 |
T |
C |
6: 48,021,410 (GRCm39) |
M71V |
possibly damaging |
Het |
| Zfp938 |
A |
T |
10: 82,063,662 (GRCm39) |
L34Q |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,620,120 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pcdh20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Pcdh20
|
APN |
14 |
88,705,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01112:Pcdh20
|
APN |
14 |
88,704,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01586:Pcdh20
|
APN |
14 |
88,708,344 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02007:Pcdh20
|
APN |
14 |
88,707,031 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02545:Pcdh20
|
APN |
14 |
88,706,280 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02935:Pcdh20
|
APN |
14 |
88,704,438 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4362001:Pcdh20
|
UTSW |
14 |
88,704,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4403001:Pcdh20
|
UTSW |
14 |
88,704,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4453001:Pcdh20
|
UTSW |
14 |
88,704,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Pcdh20
|
UTSW |
14 |
88,706,383 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0391:Pcdh20
|
UTSW |
14 |
88,706,104 (GRCm39) |
missense |
probably benign |
|
|
R0575:Pcdh20
|
UTSW |
14 |
88,705,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Pcdh20
|
UTSW |
14 |
88,706,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Pcdh20
|
UTSW |
14 |
88,705,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Pcdh20
|
UTSW |
14 |
88,706,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Pcdh20
|
UTSW |
14 |
88,706,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1664:Pcdh20
|
UTSW |
14 |
88,705,758 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1677:Pcdh20
|
UTSW |
14 |
88,705,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Pcdh20
|
UTSW |
14 |
88,706,620 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1907:Pcdh20
|
UTSW |
14 |
88,706,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2043:Pcdh20
|
UTSW |
14 |
88,704,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2430:Pcdh20
|
UTSW |
14 |
88,704,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2471:Pcdh20
|
UTSW |
14 |
88,704,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3838:Pcdh20
|
UTSW |
14 |
88,705,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4163:Pcdh20
|
UTSW |
14 |
88,705,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Pcdh20
|
UTSW |
14 |
88,706,434 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4602:Pcdh20
|
UTSW |
14 |
88,705,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Pcdh20
|
UTSW |
14 |
88,705,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Pcdh20
|
UTSW |
14 |
88,705,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Pcdh20
|
UTSW |
14 |
88,707,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5204:Pcdh20
|
UTSW |
14 |
88,706,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Pcdh20
|
UTSW |
14 |
88,705,813 (GRCm39) |
missense |
probably benign |
|
|
R5652:Pcdh20
|
UTSW |
14 |
88,704,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Pcdh20
|
UTSW |
14 |
88,708,312 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6195:Pcdh20
|
UTSW |
14 |
88,705,488 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6233:Pcdh20
|
UTSW |
14 |
88,705,488 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6848:Pcdh20
|
UTSW |
14 |
88,704,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6913:Pcdh20
|
UTSW |
14 |
88,706,038 (GRCm39) |
missense |
probably benign |
|
|
R7044:Pcdh20
|
UTSW |
14 |
88,706,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7224:Pcdh20
|
UTSW |
14 |
88,706,511 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7388:Pcdh20
|
UTSW |
14 |
88,706,103 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7486:Pcdh20
|
UTSW |
14 |
88,706,050 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7651:Pcdh20
|
UTSW |
14 |
88,706,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Pcdh20
|
UTSW |
14 |
88,706,803 (GRCm39) |
missense |
probably benign |
|
|
R7706:Pcdh20
|
UTSW |
14 |
88,704,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Pcdh20
|
UTSW |
14 |
88,707,143 (GRCm39) |
missense |
probably null |
0.02 |
|
R7892:Pcdh20
|
UTSW |
14 |
88,704,867 (GRCm39) |
nonsense |
probably null |
|
|
R8218:Pcdh20
|
UTSW |
14 |
88,706,047 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8545:Pcdh20
|
UTSW |
14 |
88,706,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8701:Pcdh20
|
UTSW |
14 |
88,705,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9219:Pcdh20
|
UTSW |
14 |
88,706,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9238:Pcdh20
|
UTSW |
14 |
88,706,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9418:Pcdh20
|
UTSW |
14 |
88,705,455 (GRCm39) |
missense |
probably benign |
|
|
R9665:Pcdh20
|
UTSW |
14 |
88,707,162 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0028:Pcdh20
|
UTSW |
14 |
88,705,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACTGTAGCATTCCCATAAACG -3'
(R):5'- AATGACAATGCTCCGCAGTTCCCC -3'
Sequencing Primer
(F):5'- GTAGCATTCCCATAAACGGTGAC -3'
(R):5'- GTTTGGGTCCCAGAAAATTCACC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation