Incidental Mutation 'R7815:Pcdha5'
| ID |
601492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha5
|
| Ensembl Gene |
ENSMUSG00000103092 |
| Gene Name |
protocadherin alpha 5 |
| Synonyms |
Cnr6, Crnr6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R7815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37094556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 355
(I355N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192168
AA Change: I355N
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: I355N
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,818,866 (GRCm39) |
D1285G |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,598,331 (GRCm39) |
V669A |
probably damaging |
Het |
| Ajap1 |
C |
A |
4: 153,517,288 (GRCm39) |
G18C |
probably damaging |
Het |
| Alms1 |
G |
T |
6: 85,592,340 (GRCm39) |
M397I |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,982,247 (GRCm39) |
M794K |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
| Casz1 |
A |
T |
4: 149,013,762 (GRCm39) |
I109F |
possibly damaging |
Het |
| Ces5a |
G |
A |
8: 94,247,623 (GRCm39) |
S297F |
possibly damaging |
Het |
| Col7a1 |
A |
G |
9: 108,798,633 (GRCm39) |
D1762G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,375,446 (GRCm39) |
Y1077F |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,081,885 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,289 (GRCm39) |
S579R |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,815,152 (GRCm39) |
M1L |
possibly damaging |
Het |
| Galk2 |
G |
A |
2: 125,817,321 (GRCm39) |
S370N |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,192,904 (GRCm39) |
T516S |
probably benign |
Het |
| Homez |
T |
C |
14: 55,095,675 (GRCm39) |
N11S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,239,775 (GRCm39) |
G494D |
probably damaging |
Het |
| Htr3b |
C |
T |
9: 48,856,833 (GRCm39) |
R215Q |
probably benign |
Het |
| Igfbp4 |
A |
G |
11: 98,932,654 (GRCm39) |
E111G |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,420 (GRCm39) |
T5A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,002 (GRCm39) |
K566E |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,450,317 (GRCm39) |
V69A |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,702 (GRCm39) |
V1071A |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,563,548 (GRCm39) |
C143R |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,590 (GRCm39) |
M65V |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,156,276 (GRCm39) |
S669G |
unknown |
Het |
| Man1a2 |
A |
T |
3: 100,563,495 (GRCm39) |
I50N |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,745,667 (GRCm39) |
M356L |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,566,414 (GRCm39) |
N677Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,528,674 (GRCm39) |
K1108M |
possibly damaging |
Het |
| Nav1 |
C |
T |
1: 135,512,377 (GRCm39) |
E228K |
possibly damaging |
Het |
| Ncapd3 |
G |
A |
9: 26,974,736 (GRCm39) |
W736* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,309,552 (GRCm39) |
D514G |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,494,111 (GRCm39) |
T657S |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,386,253 (GRCm39) |
F26S |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,992 (GRCm39) |
S153P |
probably benign |
Het |
| Oser1 |
A |
T |
2: 163,253,336 (GRCm39) |
S58T |
possibly damaging |
Het |
| Pllp |
C |
G |
8: 95,402,804 (GRCm39) |
G99A |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,861,106 (GRCm39) |
N509S |
probably benign |
Het |
| Prkd1 |
A |
C |
12: 50,472,300 (GRCm39) |
N204K |
probably damaging |
Het |
| Prss23 |
G |
A |
7: 89,159,253 (GRCm39) |
P272L |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,055,824 (GRCm39) |
F1057L |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,719,702 (GRCm39) |
S777R |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rfx3 |
A |
T |
19: 27,803,448 (GRCm39) |
M265K |
probably benign |
Het |
| S100a7a |
C |
A |
3: 90,565,119 (GRCm39) |
H105N |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,084,625 (GRCm39) |
D132G |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,274,822 (GRCm39) |
|
probably benign |
Het |
| Tacstd2 |
A |
G |
6: 67,512,140 (GRCm39) |
F184S |
possibly damaging |
Het |
| Trdc |
C |
A |
14: 54,381,259 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,974,486 (GRCm39) |
H232L |
probably benign |
Het |
| Trpc3 |
G |
T |
3: 36,709,294 (GRCm39) |
T394K |
probably benign |
Het |
| Tuba3b |
G |
A |
6: 145,566,847 (GRCm39) |
V363I |
possibly damaging |
Het |
| Tubb2a |
C |
A |
13: 34,258,962 (GRCm39) |
R276L |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,951,071 (GRCm39) |
L72* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,638 (GRCm39) |
V166A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,339,756 (GRCm39) |
G666R |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,237,516 (GRCm39) |
K247E |
probably damaging |
Het |
|
| Other mutations in Pcdha5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
tarantula
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Pcdha5
|
UTSW |
18 |
37,094,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Pcdha5
|
UTSW |
18 |
37,094,542 (GRCm39) |
missense |
probably benign |
|
|
R2888:Pcdha5
|
UTSW |
18 |
37,094,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Pcdha5
|
UTSW |
18 |
37,093,868 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2981:Pcdha5
|
UTSW |
18 |
37,094,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4468:Pcdha5
|
UTSW |
18 |
37,095,233 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4724:Pcdha5
|
UTSW |
18 |
37,094,549 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5280:Pcdha5
|
UTSW |
18 |
37,094,755 (GRCm39) |
nonsense |
probably null |
|
|
R5412:Pcdha5
|
UTSW |
18 |
37,095,510 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5731:Pcdha5
|
UTSW |
18 |
37,093,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Pcdha5
|
UTSW |
18 |
37,095,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5865:Pcdha5
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5984:Pcdha5
|
UTSW |
18 |
37,094,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6498:Pcdha5
|
UTSW |
18 |
37,095,768 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6719:Pcdha5
|
UTSW |
18 |
37,093,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Pcdha5
|
UTSW |
18 |
37,094,615 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7113:Pcdha5
|
UTSW |
18 |
37,094,757 (GRCm39) |
missense |
probably benign |
|
|
R7432:Pcdha5
|
UTSW |
18 |
37,095,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7507:Pcdha5
|
UTSW |
18 |
37,093,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7515:Pcdha5
|
UTSW |
18 |
37,095,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Pcdha5
|
UTSW |
18 |
37,093,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8129:Pcdha5
|
UTSW |
18 |
37,094,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Pcdha5
|
UTSW |
18 |
37,093,694 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8139:Pcdha5
|
UTSW |
18 |
37,095,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8469:Pcdha5
|
UTSW |
18 |
37,094,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9533:Pcdha5
|
UTSW |
18 |
37,093,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Pcdha5
|
UTSW |
18 |
37,094,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCAGATGCGGATGAG -3'
(R):5'- GAGCTCTGTCCAGTACAAGC -3'
Sequencing Primer
(F):5'- ACGATAGATTCTTCCAGTGGAG -3'
(R):5'- GCTCTGTCCAGTACAAGCGAATAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation