Incidental Mutation 'R1552:Pcdh8'
| ID |
170036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
039591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1552 (G1)
|
| Quality Score |
105 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80008047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 172
(V172E)
|
| 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: V172E
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: V172E
| 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: V172E
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: V172E
| 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 |
|
| Meta Mutation Damage Score |
0.4224 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (71/73) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,217,617 (GRCm39) |
I365F |
probably damaging |
Het |
| Abhd15 |
T |
C |
11: 77,406,233 (GRCm39) |
L70P |
probably damaging |
Het |
| Adam18 |
A |
C |
8: 25,136,377 (GRCm39) |
H381Q |
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,645,321 (GRCm39) |
|
probably null |
Het |
| Arcn1 |
C |
T |
9: 44,670,291 (GRCm39) |
A112T |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,640 (GRCm39) |
R294H |
probably benign |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,338,556 (GRCm39) |
L132P |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,615 (GRCm39) |
E81G |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,610,060 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,786,484 (GRCm39) |
R1454Q |
possibly damaging |
Het |
| Chrna3 |
C |
A |
9: 54,923,192 (GRCm39) |
E205D |
probably benign |
Het |
| Chst5 |
T |
C |
8: 112,616,912 (GRCm39) |
D236G |
probably damaging |
Het |
| Coro1a |
T |
C |
7: 126,299,124 (GRCm39) |
N367D |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,373,346 (GRCm39) |
I474V |
probably benign |
Het |
| Cyth3 |
G |
A |
5: 143,683,505 (GRCm39) |
V87I |
probably benign |
Het |
| Dclk3 |
C |
A |
9: 111,317,647 (GRCm39) |
T761K |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,897,198 (GRCm39) |
M300K |
possibly damaging |
Het |
| Eefsec |
C |
T |
6: 88,353,182 (GRCm39) |
|
probably benign |
Het |
| Exog |
T |
C |
9: 119,274,176 (GRCm39) |
S54P |
unknown |
Het |
| Fasn |
A |
G |
11: 120,709,384 (GRCm39) |
S519P |
probably damaging |
Het |
| Gas8 |
G |
A |
8: 124,247,385 (GRCm39) |
A16T |
probably benign |
Het |
| Got2 |
A |
G |
8: 96,596,122 (GRCm39) |
S333P |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,381,931 (GRCm39) |
L287Q |
probably null |
Het |
| Ift57 |
A |
G |
16: 49,579,716 (GRCm39) |
T211A |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,184 (GRCm39) |
E475G |
possibly damaging |
Het |
| Ilkap |
A |
T |
1: 91,312,316 (GRCm39) |
D11E |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,117,337 (GRCm39) |
S137P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,675 (GRCm39) |
V920A |
probably damaging |
Het |
| Kcnk18 |
A |
T |
19: 59,223,890 (GRCm39) |
H345L |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,325 (GRCm39) |
Y178N |
probably damaging |
Het |
| Klk1b1 |
A |
G |
7: 43,618,767 (GRCm39) |
Y48C |
probably damaging |
Het |
| Klra5 |
G |
T |
6: 129,886,848 (GRCm39) |
T60K |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,806,270 (GRCm39) |
L643H |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,067 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
A |
G |
4: 35,708,315 (GRCm39) |
V555A |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,946 (GRCm39) |
S251P |
probably damaging |
Het |
| Mc4r |
T |
C |
18: 66,992,766 (GRCm39) |
S116G |
probably benign |
Het |
| Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
| Myo15b |
A |
C |
11: 115,757,461 (GRCm39) |
S1104R |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,459,771 (GRCm39) |
D26E |
probably damaging |
Het |
| Neu1 |
C |
T |
17: 35,151,089 (GRCm39) |
|
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,730,975 (GRCm39) |
S302P |
possibly damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,675 (GRCm39) |
M34T |
probably benign |
Het |
| Palmd |
T |
A |
3: 116,741,689 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,403 (GRCm39) |
Q291K |
probably damaging |
Het |
| Pou2af2 |
T |
A |
9: 51,202,870 (GRCm39) |
S95C |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,320 (GRCm39) |
F357L |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,301,497 (GRCm39) |
Y212N |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,165,376 (GRCm39) |
H2061N |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,656 (GRCm39) |
S113T |
probably benign |
Het |
| Rnf38 |
G |
C |
4: 44,142,468 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
T |
A |
2: 122,527,936 (GRCm39) |
I374L |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,920,676 (GRCm39) |
|
noncoding transcript |
Het |
| Smcp |
A |
T |
3: 92,491,710 (GRCm39) |
C46S |
unknown |
Het |
| Smu1 |
A |
C |
4: 40,748,570 (GRCm39) |
V240G |
probably damaging |
Het |
| Srsf5 |
A |
G |
12: 80,996,519 (GRCm39) |
|
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,524,812 (GRCm39) |
|
probably null |
Het |
| Stx18 |
A |
G |
5: 38,262,335 (GRCm39) |
E63G |
probably damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,130 (GRCm39) |
Y222H |
probably benign |
Het |
| Tescl |
G |
T |
7: 24,032,758 (GRCm39) |
P189Q |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,203 (GRCm39) |
S125P |
probably damaging |
Het |
| Ugt2a2 |
G |
T |
5: 87,609,880 (GRCm39) |
D566E |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,237,144 (GRCm39) |
T3405S |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,785,709 (GRCm39) |
Q1046* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,172,090 (GRCm39) |
Y61* |
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,170 (GRCm39) |
T2776M |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,888,488 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5169:Pcdh8
|
UTSW |
14 |
80,005,095 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- TCATTGGCATCTAGCACACGCAC -3'
(R):5'- ATGTTGTCAGCTTCTCGCAGGAAC -3'
Sequencing Primer
(F):5'- TAGCACACGCACGCTGAG -3'
(R):5'- TTCTCGCAGGAACAGTTCCG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation