Incidental Mutation 'R5271:Pcdhb18'
| ID |
400371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
042861-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R5271 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37624649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 660
(V660M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000055949
AA Change: V660M
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: V660M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,496 (GRCm39) |
K33R |
possibly damaging |
Het |
| 4632415L05Rik |
C |
T |
3: 19,949,311 (GRCm39) |
|
noncoding transcript |
Het |
| 4930542C16Rik |
A |
C |
14: 24,665,598 (GRCm39) |
|
noncoding transcript |
Het |
| Adprh |
A |
T |
16: 38,266,416 (GRCm39) |
L242* |
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,527,905 (GRCm39) |
Q18* |
probably null |
Het |
| Bfar |
T |
C |
16: 13,510,261 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,745,568 (GRCm39) |
I206V |
probably benign |
Het |
| Cc2d1b |
T |
A |
4: 108,480,826 (GRCm39) |
|
probably benign |
Het |
| Clock |
A |
G |
5: 76,389,801 (GRCm39) |
I349T |
probably damaging |
Het |
| Cox11 |
A |
G |
11: 90,534,558 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cyp1a1 |
G |
A |
9: 57,610,121 (GRCm39) |
V512M |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,371,671 (GRCm39) |
F311S |
probably benign |
Het |
| Dnase1l3 |
T |
C |
14: 7,993,843 (GRCm38) |
D48G |
probably damaging |
Het |
| Engase |
G |
T |
11: 118,372,223 (GRCm39) |
A172S |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,466 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
A |
G |
8: 122,997,872 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,105,517 (GRCm39) |
V215A |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm20671 |
T |
C |
5: 32,977,303 (GRCm39) |
K1817R |
possibly damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,583 (GRCm39) |
Y410* |
probably null |
Het |
| Gm27013 |
T |
C |
6: 130,653,878 (GRCm39) |
Y528C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,400,680 (GRCm39) |
H550R |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,383,896 (GRCm39) |
V1056E |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,581,950 (GRCm39) |
Y679F |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,041,131 (GRCm39) |
E1120V |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,095,577 (GRCm39) |
E518G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,814,665 (GRCm39) |
I2200M |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,598,725 (GRCm39) |
H66R |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,371 (GRCm39) |
V812A |
probably damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,650 (GRCm39) |
Y310H |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,838,204 (GRCm39) |
T347I |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,313,424 (GRCm39) |
L276S |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,113,297 (GRCm39) |
F60Y |
probably benign |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,222 (GRCm39) |
Q433K |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,566 (GRCm39) |
Y61* |
probably null |
Het |
| Polk |
T |
C |
13: 96,620,047 (GRCm39) |
S718G |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,744,174 (GRCm39) |
D149G |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,417 (GRCm39) |
C35* |
probably null |
Het |
| Samd9l |
C |
T |
6: 3,376,156 (GRCm39) |
M368I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,110,107 (GRCm39) |
M1739T |
probably damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,705 (GRCm39) |
L226P |
probably damaging |
Het |
| St7l |
A |
T |
3: 104,775,376 (GRCm39) |
Y84F |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,062,329 (GRCm39) |
N392I |
probably benign |
Het |
| Syngr1 |
T |
A |
15: 79,982,240 (GRCm39) |
M9K |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,930 (GRCm39) |
S157P |
probably damaging |
Het |
| Tagap1 |
G |
T |
17: 7,223,495 (GRCm39) |
Y400* |
probably null |
Het |
| Tbc1d8 |
T |
A |
1: 39,412,848 (GRCm39) |
E976V |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,894 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,536,861 (GRCm39) |
S34988N |
possibly damaging |
Het |
| Tubg1 |
T |
G |
11: 101,011,064 (GRCm39) |
N15K |
probably damaging |
Het |
| Unc93a2 |
T |
C |
17: 7,637,081 (GRCm39) |
N149S |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zap70 |
T |
A |
1: 36,820,446 (GRCm39) |
V547D |
probably damaging |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Znrf1 |
T |
G |
8: 112,335,976 (GRCm39) |
M159R |
probably benign |
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 |
|
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 |
|
R7783:Pcdhb18
|
UTSW |
18 |
37,622,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CATTCCAGCTACTCAAGGCC -3'
(R):5'- CAAGGTGTCCAGGAAAGTGTC -3'
Sequencing Primer
(F):5'- AGCTACTCAAGGCCACGGAG -3'
(R):5'- AAAGTGTCCCTCTGGCACG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation