Incidental Mutation 'R5169:Pcdh8'
| ID |
397470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
042749-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5169 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80005095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 880
(P880S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039568]
[ENSMUST00000195355]
|
| AlphaFold |
Q7TSK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039568
AA Change: P977S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: P977S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
45 |
133 |
8.69e-2 |
SMART |
|
CA
|
157 |
243 |
1.22e-14 |
SMART |
|
CA
|
268 |
352 |
6.08e-24 |
SMART |
|
low complexity region
|
360 |
392 |
N/A |
INTRINSIC |
|
CA
|
414 |
495 |
5.34e-20 |
SMART |
|
CA
|
519 |
607 |
1.57e-26 |
SMART |
|
CA
|
636 |
718 |
1.12e-4 |
SMART |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195355
AA Change: P880S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: P880S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
45 |
133 |
8.69e-2 |
SMART |
|
CA
|
157 |
243 |
1.22e-14 |
SMART |
|
CA
|
268 |
352 |
6.08e-24 |
SMART |
|
low complexity region
|
360 |
392 |
N/A |
INTRINSIC |
|
CA
|
414 |
495 |
5.34e-20 |
SMART |
|
CA
|
519 |
607 |
1.57e-26 |
SMART |
|
CA
|
636 |
718 |
1.12e-4 |
SMART |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
883 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,841,552 (GRCm39) |
Y964* |
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,156,913 (GRCm39) |
K375R |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,520 (GRCm39) |
R415L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,750 (GRCm39) |
I1176N |
probably damaging |
Het |
| Arhgap25 |
A |
T |
6: 87,440,252 (GRCm39) |
I465N |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,980,051 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cdc37 |
T |
A |
9: 21,052,413 (GRCm39) |
M299L |
probably benign |
Het |
| Ddx54 |
C |
A |
5: 120,761,328 (GRCm39) |
H453Q |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,102,994 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,415,074 (GRCm39) |
F1939L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,345,202 (GRCm39) |
F631L |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,655,403 (GRCm39) |
Y597* |
probably null |
Het |
| Kctd1 |
T |
C |
18: 15,195,822 (GRCm39) |
E267G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,329 (GRCm39) |
T185A |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,774 (GRCm39) |
H233R |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,690,571 (GRCm39) |
I276T |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,900 (GRCm39) |
F122I |
probably benign |
Het |
| Milr1 |
C |
T |
11: 106,645,754 (GRCm39) |
R99* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,169,256 (GRCm39) |
|
probably null |
Het |
| Ms4a4d |
C |
T |
19: 11,535,340 (GRCm39) |
P213S |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,650,818 (GRCm39) |
N1100S |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,502,889 (GRCm39) |
I322T |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,198,231 (GRCm39) |
Q1287* |
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,666 (GRCm39) |
N256Y |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,095,552 (GRCm39) |
|
probably null |
Het |
| Otog |
G |
T |
7: 45,947,572 (GRCm39) |
A2242S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,415 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcid2 |
A |
G |
8: 13,129,632 (GRCm39) |
|
probably null |
Het |
| Phkb |
A |
G |
8: 86,623,120 (GRCm39) |
H148R |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,555,360 (GRCm39) |
S1106P |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,940,321 (GRCm39) |
M1067L |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,930 (GRCm39) |
G598V |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,223,196 (GRCm39) |
A267V |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,945,578 (GRCm39) |
P383S |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,295,324 (GRCm39) |
F231I |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,401,254 (GRCm39) |
D32E |
possibly damaging |
Het |
| Rpl32 |
G |
T |
6: 115,783,949 (GRCm39) |
N92K |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,829,457 (GRCm39) |
N391S |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,501,005 (GRCm39) |
E3563K |
possibly damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,286,126 (GRCm39) |
M508V |
probably benign |
Het |
| Shoc1 |
T |
A |
4: 59,059,618 (GRCm39) |
Y1014F |
possibly damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,482,184 (GRCm39) |
C614Y |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,309 (GRCm39) |
S486P |
probably damaging |
Het |
| Spi1 |
A |
T |
2: 90,945,428 (GRCm39) |
K170* |
probably null |
Het |
| Srgn |
C |
A |
10: 62,330,866 (GRCm39) |
D80Y |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,504,857 (GRCm39) |
K87R |
possibly damaging |
Het |
| Sytl3 |
A |
T |
17: 6,982,945 (GRCm39) |
K134* |
probably null |
Het |
| Szt2 |
T |
C |
4: 118,247,027 (GRCm39) |
T863A |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,992,181 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,550,629 (GRCm39) |
L253* |
probably null |
Het |
| Timm8a2 |
T |
A |
14: 122,272,138 (GRCm39) |
S14T |
probably benign |
Het |
| Tppp3 |
G |
C |
8: 106,194,501 (GRCm39) |
N166K |
probably benign |
Het |
| Trav2 |
G |
A |
14: 52,804,759 (GRCm39) |
V4M |
probably benign |
Het |
| Trmt5 |
T |
C |
12: 73,329,495 (GRCm39) |
D221G |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,690 (GRCm39) |
L332* |
probably null |
Het |
| V1rd19 |
A |
G |
7: 23,703,209 (GRCm39) |
N225S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,274,184 (GRCm39) |
Q448L |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,657,515 (GRCm39) |
N185I |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,925,914 (GRCm39) |
I351N |
probably damaging |
Het |
|
| Other mutations in Pcdh8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Pcdh8
|
APN |
14 |
80,006,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02611:Pcdh8
|
APN |
14 |
80,005,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0094:Pcdh8
|
UTSW |
14 |
80,005,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Pcdh8
|
UTSW |
14 |
80,004,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Pcdh8
|
UTSW |
14 |
80,007,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Pcdh8
|
UTSW |
14 |
80,007,400 (GRCm39) |
missense |
probably benign |
|
|
R0718:Pcdh8
|
UTSW |
14 |
80,008,131 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1281:Pcdh8
|
UTSW |
14 |
80,005,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Pcdh8
|
UTSW |
14 |
80,006,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Pcdh8
|
UTSW |
14 |
80,006,829 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1552:Pcdh8
|
UTSW |
14 |
80,008,047 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1556:Pcdh8
|
UTSW |
14 |
80,007,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Pcdh8
|
UTSW |
14 |
80,005,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Pcdh8
|
UTSW |
14 |
80,006,154 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3970:Pcdh8
|
UTSW |
14 |
80,007,706 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4113:Pcdh8
|
UTSW |
14 |
80,004,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Pcdh8
|
UTSW |
14 |
80,005,710 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4840:Pcdh8
|
UTSW |
14 |
80,008,308 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5187:Pcdh8
|
UTSW |
14 |
80,007,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5415:Pcdh8
|
UTSW |
14 |
80,007,688 (GRCm39) |
nonsense |
probably null |
|
|
R5548:Pcdh8
|
UTSW |
14 |
80,004,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Pcdh8
|
UTSW |
14 |
80,007,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Pcdh8
|
UTSW |
14 |
80,008,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Pcdh8
|
UTSW |
14 |
80,008,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6313:Pcdh8
|
UTSW |
14 |
80,005,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7472:Pcdh8
|
UTSW |
14 |
80,008,691 (GRCm39) |
splice site |
probably null |
|
|
R7540:Pcdh8
|
UTSW |
14 |
80,008,543 (GRCm39) |
missense |
probably benign |
|
|
R7653:Pcdh8
|
UTSW |
14 |
80,005,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7751:Pcdh8
|
UTSW |
14 |
80,008,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7836:Pcdh8
|
UTSW |
14 |
80,006,101 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8281:Pcdh8
|
UTSW |
14 |
80,006,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8365:Pcdh8
|
UTSW |
14 |
80,008,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Pcdh8
|
UTSW |
14 |
80,006,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8814:Pcdh8
|
UTSW |
14 |
80,006,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8931:Pcdh8
|
UTSW |
14 |
80,006,971 (GRCm39) |
nonsense |
probably null |
|
|
R9158:Pcdh8
|
UTSW |
14 |
80,005,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Pcdh8
|
UTSW |
14 |
80,005,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Pcdh8
|
UTSW |
14 |
80,008,206 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9558:Pcdh8
|
UTSW |
14 |
80,006,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Pcdh8
|
UTSW |
14 |
80,006,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Pcdh8
|
UTSW |
14 |
80,007,321 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTCCAATCTCCTGCAGGTC -3'
(R):5'- AAGCATGTGCCATCCTCTC -3'
Sequencing Primer
(F):5'- AATCTCCTGCAGGTCTGGGAG -3'
(R):5'- CTAGGTCATTCTGATCGCT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation