Incidental Mutation 'R7830:Pcdhb6'
| ID |
602407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| MMRRC Submission |
045884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37469365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 762
(T762K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061717
AA Change: T762K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: T762K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
2.7e-33 |
PFAM |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.69e-22 |
SMART |
|
CA
|
472 |
558 |
1.65e-25 |
SMART |
|
CA
|
588 |
669 |
6.24e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.7e-26 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194655
|
| SMART Domains |
Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,654 (GRCm39) |
L164P |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,795,649 (GRCm39) |
L388Q |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,664 (GRCm39) |
N65S |
probably damaging |
Het |
| Ankrd54 |
G |
A |
15: 78,938,250 (GRCm39) |
T287I |
probably damaging |
Het |
| Bltp1 |
CCAGATTCATGTAGCA |
CCA |
3: 37,019,081 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
A |
19: 40,753,801 (GRCm39) |
V108E |
possibly damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,262,917 (GRCm39) |
I187N |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,469,245 (GRCm39) |
D609V |
probably damaging |
Het |
| Col6a4 |
G |
T |
9: 105,952,589 (GRCm39) |
D436E |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,851,237 (GRCm39) |
D394E |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,523,210 (GRCm39) |
E75G |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,832 (GRCm39) |
G249S |
probably damaging |
Het |
| Erich4 |
A |
T |
7: 25,315,149 (GRCm39) |
M42K |
probably benign |
Het |
| Fig4 |
A |
C |
10: 41,132,462 (GRCm39) |
V448G |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,848 (GRCm39) |
D303G |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,719,083 (GRCm39) |
Y330D |
possibly damaging |
Het |
| Gpr146 |
C |
T |
5: 139,378,357 (GRCm39) |
A53V |
probably benign |
Het |
| Klk1b27 |
A |
C |
7: 43,705,150 (GRCm39) |
M106L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,720,183 (GRCm39) |
T190A |
probably damaging |
Het |
| Lrrc4b |
A |
G |
7: 44,111,231 (GRCm39) |
I368V |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,284 (GRCm39) |
Q368L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,738,057 (GRCm39) |
Y501* |
probably null |
Het |
| Neb |
T |
A |
2: 52,055,201 (GRCm39) |
H6445L |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,648,492 (GRCm39) |
M741K |
probably benign |
Het |
| Nxn |
T |
A |
11: 76,164,819 (GRCm39) |
I231F |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,369,392 (GRCm39) |
L250P |
probably damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,985 (GRCm39) |
L203S |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,813,414 (GRCm39) |
S152P |
probably benign |
Het |
| P3h4 |
T |
C |
11: 100,304,869 (GRCm39) |
T173A |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,221,733 (GRCm39) |
R678S |
probably damaging |
Het |
| Pnrc1 |
G |
A |
4: 33,248,057 (GRCm39) |
P114L |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,574,481 (GRCm39) |
S126R |
probably damaging |
Het |
| Prl3d2 |
C |
T |
13: 27,310,000 (GRCm39) |
T155I |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,038 (GRCm39) |
N1847K |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,381,223 (GRCm39) |
V440E |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,404 (GRCm39) |
S913P |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,301,928 (GRCm39) |
N24S |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,031,030 (GRCm39) |
H525L |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,364,447 (GRCm39) |
Y94C |
probably damaging |
Het |
| Serpinb6a |
T |
G |
13: 34,114,030 (GRCm39) |
D120A |
probably benign |
Het |
| Sik3 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
9: 46,123,355 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,566 (GRCm39) |
D299G |
probably benign |
Het |
| Sox1 |
G |
A |
8: 12,446,955 (GRCm39) |
A199T |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,205,530 (GRCm39) |
I867F |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,040,142 (GRCm39) |
Q1541* |
probably null |
Het |
| Wrn |
G |
A |
8: 33,759,082 (GRCm39) |
L716F |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,612 (GRCm39) |
T620I |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,136 (GRCm39) |
I263K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,821,124 (GRCm39) |
E646D |
probably benign |
Het |
| Zfp970 |
G |
T |
2: 177,167,338 (GRCm39) |
C304F |
probably damaging |
Het |
|
| Other mutations in Pcdhb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Pcdhb6
|
APN |
18 |
37,467,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Pcdhb6
|
APN |
18 |
37,468,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Pcdhb6
|
APN |
18 |
37,468,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Pcdhb6
|
APN |
18 |
37,468,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Pcdhb6
|
APN |
18 |
37,467,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03130:Pcdhb6
|
APN |
18 |
37,468,640 (GRCm39) |
nonsense |
probably null |
|
|
IGL03144:Pcdhb6
|
APN |
18 |
37,467,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Pcdhb6
|
APN |
18 |
37,469,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03203:Pcdhb6
|
APN |
18 |
37,467,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03388:Pcdhb6
|
APN |
18 |
37,469,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Pcdhb6
|
UTSW |
18 |
37,468,300 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0571:Pcdhb6
|
UTSW |
18 |
37,468,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0734:Pcdhb6
|
UTSW |
18 |
37,468,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Pcdhb6
|
UTSW |
18 |
37,467,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2207:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2303:Pcdhb6
|
UTSW |
18 |
37,469,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Pcdhb6
|
UTSW |
18 |
37,468,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3409:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Pcdhb6
|
UTSW |
18 |
37,469,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Pcdhb6
|
UTSW |
18 |
37,469,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4745:Pcdhb6
|
UTSW |
18 |
37,468,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4821:Pcdhb6
|
UTSW |
18 |
37,467,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Pcdhb6
|
UTSW |
18 |
37,467,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5465:Pcdhb6
|
UTSW |
18 |
37,467,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5522:Pcdhb6
|
UTSW |
18 |
37,467,402 (GRCm39) |
missense |
probably benign |
|
|
R5556:Pcdhb6
|
UTSW |
18 |
37,467,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Pcdhb6
|
UTSW |
18 |
37,467,753 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6154:Pcdhb6
|
UTSW |
18 |
37,467,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6256:Pcdhb6
|
UTSW |
18 |
37,468,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6304:Pcdhb6
|
UTSW |
18 |
37,468,974 (GRCm39) |
nonsense |
probably null |
|
|
R6528:Pcdhb6
|
UTSW |
18 |
37,467,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Pcdhb6
|
UTSW |
18 |
37,468,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Pcdhb6
|
UTSW |
18 |
37,469,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7307:Pcdhb6
|
UTSW |
18 |
37,468,531 (GRCm39) |
missense |
probably benign |
|
|
R7313:Pcdhb6
|
UTSW |
18 |
37,468,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Pcdhb6
|
UTSW |
18 |
37,468,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Pcdhb6
|
UTSW |
18 |
37,468,332 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7606:Pcdhb6
|
UTSW |
18 |
37,468,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Pcdhb6
|
UTSW |
18 |
37,467,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Pcdhb6
|
UTSW |
18 |
37,467,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7982:Pcdhb6
|
UTSW |
18 |
37,467,273 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Pcdhb6
|
UTSW |
18 |
37,468,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8917:Pcdhb6
|
UTSW |
18 |
37,468,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9397:Pcdhb6
|
UTSW |
18 |
37,469,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pcdhb6
|
UTSW |
18 |
37,468,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGGTCATTGCCTTGGC -3'
(R):5'- CCCTACACAATTAGAAATCATGGG -3'
Sequencing Primer
(F):5'- GGTCATTGCCTTGGCCTCTG -3'
(R):5'- ACTCAGTTACCAAAACCTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation