Incidental Mutation 'R4709:Pcdhb12'
| ID |
355518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
042018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4709 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37570548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 565
(T565A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055495
AA Change: T565A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: T565A
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
53 |
130 |
1.67e-1 |
SMART |
|
CA
|
154 |
239 |
3.69e-23 |
SMART |
|
CA
|
263 |
343 |
6.56e-29 |
SMART |
|
CA
|
366 |
447 |
5.9e-22 |
SMART |
|
CA
|
471 |
557 |
4.24e-23 |
SMART |
|
CA
|
587 |
668 |
1.01e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-26 |
PFAM |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000193015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193629
|
| 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 |
0.1040 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
97% (77/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,271,069 (GRCm39) |
T463M |
probably damaging |
Het |
| Arhgap35 |
C |
T |
7: 16,297,511 (GRCm39) |
G518D |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,470,517 (GRCm39) |
Y110H |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,604 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,061 (GRCm39) |
V77A |
possibly damaging |
Het |
| Cers2 |
A |
G |
3: 95,227,534 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,821,120 (GRCm39) |
H145Q |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,073,905 (GRCm39) |
I2030N |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,760,522 (GRCm39) |
|
probably null |
Het |
| Dhodh |
T |
C |
8: 110,328,170 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,982,495 (GRCm39) |
Y2558F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| En1 |
A |
T |
1: 120,534,872 (GRCm39) |
Y387F |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,423,363 (GRCm39) |
C305F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,315 (GRCm39) |
V1477A |
probably benign |
Het |
| Gimap3 |
A |
T |
6: 48,742,327 (GRCm39) |
L201Q |
probably benign |
Het |
| Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
A |
G |
12: 24,636,132 (GRCm39) |
I283V |
possibly damaging |
Het |
| Grid2ip |
T |
A |
5: 143,374,658 (GRCm39) |
L926H |
probably damaging |
Het |
| Gtf2h2 |
G |
T |
13: 100,605,523 (GRCm39) |
C82* |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,433,588 (GRCm39) |
T280A |
probably benign |
Het |
| Gzmd |
T |
C |
14: 56,367,698 (GRCm39) |
I192V |
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,834,695 (GRCm39) |
V855A |
possibly damaging |
Het |
| Hey1 |
A |
G |
3: 8,730,963 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,249,243 (GRCm39) |
S19P |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,853,964 (GRCm39) |
R696W |
unknown |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,900,343 (GRCm39) |
I53T |
probably damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,700 (GRCm39) |
E208* |
probably null |
Het |
| Myh9 |
A |
T |
15: 77,671,717 (GRCm39) |
I458N |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nectin3 |
T |
A |
16: 46,284,306 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nek5 |
A |
T |
8: 22,573,443 (GRCm39) |
N504K |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,424 (GRCm39) |
H108Q |
probably benign |
Het |
| Or10d5 |
A |
T |
9: 39,861,165 (GRCm39) |
L301M |
probably damaging |
Het |
| Or2ak4 |
T |
C |
11: 58,649,013 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,989 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,458 (GRCm39) |
T137S |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
| Or9i14 |
T |
A |
19: 13,792,814 (GRCm39) |
I47F |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,828,572 (GRCm39) |
N4676D |
unknown |
Het |
| Pdlim1 |
T |
A |
19: 40,211,180 (GRCm39) |
H278L |
probably benign |
Het |
| Pfkfb3 |
G |
A |
2: 11,498,719 (GRCm39) |
T46M |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,311,733 (GRCm39) |
D924G |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,292,031 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,217,924 (GRCm39) |
S674P |
possibly damaging |
Het |
| Ranbp6 |
C |
T |
19: 29,788,984 (GRCm39) |
R456Q |
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,819,728 (GRCm39) |
V46E |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,884 (GRCm39) |
I2352T |
probably damaging |
Het |
| Sbk2 |
G |
T |
7: 4,960,577 (GRCm39) |
R198S |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,386,166 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
G |
A |
4: 150,722,697 (GRCm39) |
P396S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,087,861 (GRCm39) |
D418G |
probably null |
Het |
| Smarcad1 |
A |
G |
6: 65,052,099 (GRCm39) |
T411A |
probably benign |
Het |
| Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
| Stag1 |
G |
T |
9: 100,620,092 (GRCm39) |
R65L |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,165,680 (GRCm39) |
D92V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,359,606 (GRCm39) |
T164A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,860 (GRCm39) |
D217E |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,030,924 (GRCm39) |
E553G |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,088 (GRCm39) |
F333L |
probably benign |
Het |
| Ypel5 |
G |
A |
17: 73,155,726 (GRCm39) |
R98H |
probably benign |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,062,268 (GRCm39) |
S176G |
probably benign |
Het |
|
| Other mutations in Pcdhb12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Pcdhb12
|
APN |
18 |
37,570,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01309:Pcdhb12
|
APN |
18 |
37,569,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Pcdhb12
|
APN |
18 |
37,570,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Pcdhb12
|
APN |
18 |
37,570,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02617:Pcdhb12
|
APN |
18 |
37,570,099 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0238:Pcdhb12
|
UTSW |
18 |
37,569,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Pcdhb12
|
UTSW |
18 |
37,569,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0309:Pcdhb12
|
UTSW |
18 |
37,569,174 (GRCm39) |
missense |
probably benign |
|
|
R0392:Pcdhb12
|
UTSW |
18 |
37,570,011 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0494:Pcdhb12
|
UTSW |
18 |
37,571,148 (GRCm39) |
missense |
probably benign |
|
|
R0531:Pcdhb12
|
UTSW |
18 |
37,570,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Pcdhb12
|
UTSW |
18 |
37,570,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Pcdhb12
|
UTSW |
18 |
37,570,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Pcdhb12
|
UTSW |
18 |
37,570,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Pcdhb12
|
UTSW |
18 |
37,568,874 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1300:Pcdhb12
|
UTSW |
18 |
37,570,450 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1334:Pcdhb12
|
UTSW |
18 |
37,569,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1424:Pcdhb12
|
UTSW |
18 |
37,571,132 (GRCm39) |
missense |
probably benign |
|
|
R1513:Pcdhb12
|
UTSW |
18 |
37,570,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Pcdhb12
|
UTSW |
18 |
37,569,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pcdhb12
|
UTSW |
18 |
37,569,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Pcdhb12
|
UTSW |
18 |
37,569,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1774:Pcdhb12
|
UTSW |
18 |
37,569,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1893:Pcdhb12
|
UTSW |
18 |
37,570,136 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1901:Pcdhb12
|
UTSW |
18 |
37,570,683 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2114:Pcdhb12
|
UTSW |
18 |
37,569,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Pcdhb12
|
UTSW |
18 |
37,569,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2915:Pcdhb12
|
UTSW |
18 |
37,570,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Pcdhb12
|
UTSW |
18 |
37,569,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3918:Pcdhb12
|
UTSW |
18 |
37,570,101 (GRCm39) |
missense |
probably benign |
|
|
R4621:Pcdhb12
|
UTSW |
18 |
37,570,213 (GRCm39) |
missense |
probably benign |
|
|
R4679:Pcdhb12
|
UTSW |
18 |
37,570,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Pcdhb12
|
UTSW |
18 |
37,570,909 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4953:Pcdhb12
|
UTSW |
18 |
37,569,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Pcdhb12
|
UTSW |
18 |
37,568,907 (GRCm39) |
nonsense |
probably null |
|
|
R5130:Pcdhb12
|
UTSW |
18 |
37,568,877 (GRCm39) |
missense |
probably benign |
|
|
R5204:Pcdhb12
|
UTSW |
18 |
37,569,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5361:Pcdhb12
|
UTSW |
18 |
37,570,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Pcdhb12
|
UTSW |
18 |
37,569,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5979:Pcdhb12
|
UTSW |
18 |
37,571,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6117:Pcdhb12
|
UTSW |
18 |
37,568,695 (GRCm39) |
intron |
probably benign |
|
|
R6258:Pcdhb12
|
UTSW |
18 |
37,569,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Pcdhb12
|
UTSW |
18 |
37,569,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6270:Pcdhb12
|
UTSW |
18 |
37,569,838 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6623:Pcdhb12
|
UTSW |
18 |
37,570,711 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7288:Pcdhb12
|
UTSW |
18 |
37,569,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7733:Pcdhb12
|
UTSW |
18 |
37,570,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Pcdhb12
|
UTSW |
18 |
37,568,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8131:Pcdhb12
|
UTSW |
18 |
37,570,335 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8331:Pcdhb12
|
UTSW |
18 |
37,570,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Pcdhb12
|
UTSW |
18 |
37,570,590 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8553:Pcdhb12
|
UTSW |
18 |
37,570,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8693:Pcdhb12
|
UTSW |
18 |
37,570,474 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8821:Pcdhb12
|
UTSW |
18 |
37,570,386 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8831:Pcdhb12
|
UTSW |
18 |
37,570,386 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8950:Pcdhb12
|
UTSW |
18 |
37,570,590 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9037:Pcdhb12
|
UTSW |
18 |
37,569,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Pcdhb12
|
UTSW |
18 |
37,570,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Pcdhb12
|
UTSW |
18 |
37,570,393 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACAATGGGCAGCTGTTTG -3'
(R):5'- TTGTCCTTGACCAGCAGCAG -3'
Sequencing Primer
(F):5'- CTGTTTGCGCTCAGGGC -3'
(R):5'- GCATCGCGCTCACTCAG -3'
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| Posted On |
2015-10-21 |
Incidental Mutation