Incidental Mutation 'R7783:Pcdhb18'
| ID |
599410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
045839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R7783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37622874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 68
(C68Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053856]
[ENSMUST00000055949]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053856
|
| SMART Domains |
Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
31 |
112 |
5.8e-35 |
PFAM |
|
CA
|
155 |
240 |
2.42e-18 |
SMART |
|
CA
|
264 |
345 |
8.03e-24 |
SMART |
|
CA
|
368 |
449 |
5.81e-21 |
SMART |
|
CA
|
473 |
559 |
8.15e-25 |
SMART |
|
CA
|
589 |
670 |
6.34e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
770 |
1.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055949
AA Change: C68Y
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: C68Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
30 |
112 |
3.1e-34 |
PFAM |
|
CA
|
155 |
240 |
7.97e-19 |
SMART |
|
CA
|
264 |
345 |
6.27e-26 |
SMART |
|
CA
|
368 |
449 |
2.63e-19 |
SMART |
|
CA
|
473 |
559 |
7.09e-25 |
SMART |
|
CA
|
589 |
670 |
2.87e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
771 |
7.9e-27 |
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: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,875 (GRCm39) |
Y447* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,386,641 (GRCm39) |
V8A |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,900,257 (GRCm39) |
R103K |
unknown |
Het |
| Adamts13 |
G |
T |
2: 26,880,597 (GRCm39) |
A727S |
not run |
Het |
| Ajm1 |
A |
T |
2: 25,467,820 (GRCm39) |
L697Q |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,439,325 (GRCm39) |
C689* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,414 (GRCm39) |
Q60* |
probably null |
Het |
| Ankrd12 |
A |
G |
17: 66,334,245 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,428,770 (GRCm39) |
N920K |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,359 (GRCm39) |
L390P |
probably damaging |
Het |
| Arvcf |
T |
G |
16: 18,207,063 (GRCm39) |
H7Q |
probably benign |
Het |
| Asns |
A |
G |
6: 7,677,978 (GRCm39) |
S367P |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,037,192 (GRCm39) |
H562L |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,327,334 (GRCm39) |
D37G |
probably damaging |
Het |
| Cdc14a |
C |
T |
3: 116,198,236 (GRCm39) |
A58T |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,302,459 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
G |
T |
9: 78,042,927 (GRCm39) |
V51F |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,458,967 (GRCm39) |
F1068L |
probably benign |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Ercc3 |
T |
A |
18: 32,381,296 (GRCm39) |
S371T |
probably damaging |
Het |
| Fam193a |
A |
C |
5: 34,588,524 (GRCm39) |
K358Q |
probably damaging |
Het |
| Fem1a |
G |
A |
17: 56,564,522 (GRCm39) |
C205Y |
probably benign |
Het |
| Fh1 |
G |
A |
1: 175,439,744 (GRCm39) |
T233M |
probably damaging |
Het |
| Ftsj3 |
CCTTCTTCTTCTTCTTCT |
CCTTCTTCTTCTTCT |
11: 106,143,377 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
T |
C |
11: 42,207,289 (GRCm39) |
N265S |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm6 |
T |
A |
11: 50,753,909 (GRCm39) |
C738S |
probably damaging |
Het |
| Gtsf1 |
C |
T |
15: 103,336,996 (GRCm39) |
|
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,140,196 (GRCm39) |
Y364F |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,336 (GRCm39) |
I374V |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,677,785 (GRCm39) |
F250L |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,458,807 (GRCm39) |
V37A |
probably benign |
Het |
| Izumo3 |
A |
T |
4: 92,033,260 (GRCm39) |
I182K |
probably damaging |
Het |
| Kidins220 |
G |
A |
12: 25,038,555 (GRCm39) |
A36T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,236 (GRCm39) |
R231L |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,183 (GRCm39) |
S678C |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,272,288 (GRCm39) |
F629C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,411,078 (GRCm39) |
H1341Q |
unknown |
Het |
| Or13a28 |
A |
G |
7: 140,217,637 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,099 (GRCm39) |
D124E |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,219,029 (GRCm39) |
S264G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,776 (GRCm39) |
T238S |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,995,296 (GRCm39) |
H323R |
probably benign |
Het |
| Parm1 |
A |
T |
5: 91,741,724 (GRCm39) |
M31L |
probably benign |
Het |
| Pkn3 |
A |
T |
2: 29,969,634 (GRCm39) |
E35V |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,748,495 (GRCm39) |
Y238N |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,678,097 (GRCm39) |
D122G |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,570,409 (GRCm39) |
A331S |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,505,851 (GRCm39) |
V1037A |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,953,588 (GRCm39) |
V766A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,825,953 (GRCm39) |
T87A |
|
Het |
| St3gal3 |
T |
C |
4: 117,797,320 (GRCm39) |
M308V |
probably benign |
Het |
| Stx19 |
T |
C |
16: 62,642,649 (GRCm39) |
L155S |
probably benign |
Het |
| Tespa1 |
A |
T |
10: 130,192,752 (GRCm39) |
T145S |
probably damaging |
Het |
| Timm21 |
A |
C |
18: 84,965,846 (GRCm39) |
F221V |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,082,264 (GRCm39) |
F771Y |
probably damaging |
Het |
| Tmem150a |
C |
A |
6: 72,335,606 (GRCm39) |
L125I |
unknown |
Het |
| Try4 |
T |
C |
6: 41,279,229 (GRCm39) |
L4P |
possibly damaging |
Het |
| Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
| Txndc16 |
A |
T |
14: 45,382,417 (GRCm39) |
N609K |
probably benign |
Het |
| Upf1 |
T |
C |
8: 70,805,508 (GRCm39) |
T46A |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,411,626 (GRCm39) |
N184D |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,228,047 (GRCm39) |
V1854A |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,795 (GRCm39) |
C259S |
possibly damaging |
Het |
|
| Other mutations in Pcdhb18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01685:Pcdhb18
|
APN |
18 |
37,624,984 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02651:Pcdhb18
|
APN |
18 |
37,624,234 (GRCm39) |
nonsense |
probably null |
|
|
IGL02721:Pcdhb18
|
APN |
18 |
37,623,084 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02945:Pcdhb18
|
APN |
18 |
37,623,048 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03030:Pcdhb18
|
APN |
18 |
37,623,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Pcdhb18
|
APN |
18 |
37,622,674 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0206:Pcdhb18
|
UTSW |
18 |
37,623,240 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0208:Pcdhb18
|
UTSW |
18 |
37,623,240 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0680:Pcdhb18
|
UTSW |
18 |
37,623,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1517:Pcdhb18
|
UTSW |
18 |
37,622,673 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1519:Pcdhb18
|
UTSW |
18 |
37,623,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Pcdhb18
|
UTSW |
18 |
37,624,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1735:Pcdhb18
|
UTSW |
18 |
37,623,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2089:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2206:Pcdhb18
|
UTSW |
18 |
37,624,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2207:Pcdhb18
|
UTSW |
18 |
37,624,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4773:Pcdhb18
|
UTSW |
18 |
37,623,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Pcdhb18
|
UTSW |
18 |
37,622,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Pcdhb18
|
UTSW |
18 |
37,624,649 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5568:Pcdhb18
|
UTSW |
18 |
37,624,853 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5647:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5648:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5690:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5692:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5812:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5813:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5928:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5929:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5930:Pcdhb18
|
UTSW |
18 |
37,624,988 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6209:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6255:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6602:Pcdhb18
|
UTSW |
18 |
37,623,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6699:Pcdhb18
|
UTSW |
18 |
37,625,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7055:Pcdhb18
|
UTSW |
18 |
37,623,864 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7197:Pcdhb18
|
UTSW |
18 |
37,623,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7289:Pcdhb18
|
UTSW |
18 |
37,623,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Pcdhb18
|
UTSW |
18 |
37,624,976 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7403:Pcdhb18
|
UTSW |
18 |
37,624,950 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7541:Pcdhb18
|
UTSW |
18 |
37,624,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Pcdhb18
|
UTSW |
18 |
37,624,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7670:Pcdhb18
|
UTSW |
18 |
37,624,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Pcdhb18
|
UTSW |
18 |
37,624,790 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7819:Pcdhb18
|
UTSW |
18 |
37,624,308 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7826:Pcdhb18
|
UTSW |
18 |
37,623,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7857:Pcdhb18
|
UTSW |
18 |
37,624,364 (GRCm39) |
missense |
probably benign |
|
|
R7866:Pcdhb18
|
UTSW |
18 |
37,623,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7895:Pcdhb18
|
UTSW |
18 |
37,623,520 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8773:Pcdhb18
|
UTSW |
18 |
37,624,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Pcdhb18
|
UTSW |
18 |
37,623,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8891:Pcdhb18
|
UTSW |
18 |
37,623,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9303:Pcdhb18
|
UTSW |
18 |
37,625,004 (GRCm39) |
missense |
probably benign |
|
|
R9305:Pcdhb18
|
UTSW |
18 |
37,625,004 (GRCm39) |
missense |
probably benign |
|
|
R9525:Pcdhb18
|
UTSW |
18 |
37,624,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Pcdhb18
|
UTSW |
18 |
37,623,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Pcdhb18
|
UTSW |
18 |
37,623,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0022:Pcdhb18
|
UTSW |
18 |
37,623,326 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCTGACACCTGTAGTAAAG -3'
(R):5'- ATCCAGAATTCTCAGCTCAGCC -3'
Sequencing Primer
(F):5'- CAGAGGATCATGTGTCTCCAGAC -3'
(R):5'- TCAGCTCAGCCCGGTAAATCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation