Incidental Mutation 'R5837:Pcdhb9'
| ID |
449682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
044057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R5837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37535851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 615
(A615E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057228
AA Change: A615E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: A615E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
65 |
147 |
2.3e-33 |
PFAM |
|
CA
|
190 |
275 |
1.28e-17 |
SMART |
|
CA
|
299 |
380 |
7.6e-25 |
SMART |
|
CA
|
403 |
484 |
5.81e-21 |
SMART |
|
CA
|
508 |
594 |
9.8e-28 |
SMART |
|
CA
|
624 |
705 |
1.86e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
722 |
805 |
2.3e-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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,594,806 (GRCm39) |
N605D |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,277 (GRCm39) |
M1240V |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,265 (GRCm39) |
I86N |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,483 (GRCm39) |
|
probably null |
Het |
| Bet1l |
C |
A |
7: 140,434,694 (GRCm39) |
R51L |
probably benign |
Het |
| Bpifa5 |
A |
G |
2: 154,005,598 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ccdc141 |
G |
T |
2: 76,938,781 (GRCm39) |
Q275K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,258,280 (GRCm39) |
H241L |
probably damaging |
Het |
| Commd7 |
A |
G |
2: 153,471,144 (GRCm39) |
V36A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,468,032 (GRCm39) |
S555N |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,959,919 (GRCm39) |
I79N |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,416,515 (GRCm39) |
S562P |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,053,865 (GRCm39) |
I1664F |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,753,926 (GRCm39) |
V277A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,221,054 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
G |
A |
15: 100,592,527 (GRCm39) |
T560M |
possibly damaging |
Het |
| Glra1 |
G |
T |
11: 55,427,333 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
C |
T |
2: 128,809,077 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,586 (GRCm39) |
R1459H |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,308,514 (GRCm39) |
K1048E |
probably damaging |
Het |
| Ilk |
T |
C |
7: 105,390,378 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
C |
T |
7: 30,770,208 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,374,105 (GRCm39) |
T59A |
possibly damaging |
Het |
| Lzic |
G |
T |
4: 149,570,457 (GRCm39) |
|
probably null |
Het |
| Mef2d |
A |
G |
3: 88,069,088 (GRCm39) |
T286A |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,361,839 (GRCm39) |
C4447F |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,294,930 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,071,622 (GRCm39) |
|
probably benign |
Het |
| Npl |
T |
C |
1: 153,379,271 (GRCm39) |
T271A |
probably benign |
Het |
| Nudt1 |
A |
G |
5: 140,320,295 (GRCm39) |
R25G |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,251,061 (GRCm39) |
E226G |
possibly damaging |
Het |
| Oc90 |
T |
C |
15: 65,748,295 (GRCm39) |
D405G |
probably benign |
Het |
| Or10q1b |
T |
A |
19: 13,682,324 (GRCm39) |
C44* |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,266,474 (GRCm39) |
M300V |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 86,980,699 (GRCm39) |
F102Y |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,266 (GRCm39) |
L161H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,880 (GRCm39) |
I277T |
possibly damaging |
Het |
| Phrf1 |
C |
G |
7: 140,839,974 (GRCm39) |
D1056E |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,704,450 (GRCm39) |
A223E |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,536,682 (GRCm39) |
I4N |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,500,403 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,140 (GRCm39) |
T37S |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,001,417 (GRCm39) |
V1169A |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,134,792 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
C |
T |
15: 97,655,223 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,341,112 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
C |
T |
1: 96,746,707 (GRCm39) |
E712K |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,316,428 (GRCm39) |
T168A |
probably benign |
Het |
| Stoml2 |
G |
T |
4: 43,028,989 (GRCm39) |
N248K |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,806,911 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
A |
4: 63,931,451 (GRCm39) |
D753V |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,722,202 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,180 (GRCm39) |
S22G |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,067,326 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,718 (GRCm39) |
T32151A |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,800,701 (GRCm39) |
F373Y |
probably damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,949 (GRCm39) |
I10T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,606,054 (GRCm39) |
F322S |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,360,300 (GRCm39) |
D35G |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,870 (GRCm39) |
H339Q |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,648 (GRCm39) |
H235L |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,442,097 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pcdhb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Pcdhb9
|
APN |
18 |
37,536,332 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01557:Pcdhb9
|
APN |
18 |
37,536,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Pcdhb9
|
APN |
18 |
37,536,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01954:Pcdhb9
|
APN |
18 |
37,534,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Pcdhb9
|
APN |
18 |
37,534,810 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03057:Pcdhb9
|
APN |
18 |
37,534,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0140:Pcdhb9
|
UTSW |
18 |
37,536,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0180:Pcdhb9
|
UTSW |
18 |
37,535,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Pcdhb9
|
UTSW |
18 |
37,535,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Pcdhb9
|
UTSW |
18 |
37,535,028 (GRCm39) |
nonsense |
probably null |
|
|
R0669:Pcdhb9
|
UTSW |
18 |
37,535,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Pcdhb9
|
UTSW |
18 |
37,536,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1642:Pcdhb9
|
UTSW |
18 |
37,533,987 (GRCm39) |
intron |
probably benign |
|
|
R1678:Pcdhb9
|
UTSW |
18 |
37,534,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Pcdhb9
|
UTSW |
18 |
37,536,380 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Pcdhb9
|
UTSW |
18 |
37,536,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1823:Pcdhb9
|
UTSW |
18 |
37,535,871 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1868:Pcdhb9
|
UTSW |
18 |
37,535,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Pcdhb9
|
UTSW |
18 |
37,536,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2446:Pcdhb9
|
UTSW |
18 |
37,536,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2889:Pcdhb9
|
UTSW |
18 |
37,536,276 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2890:Pcdhb9
|
UTSW |
18 |
37,536,379 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3196:Pcdhb9
|
UTSW |
18 |
37,534,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3725:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3726:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4179:Pcdhb9
|
UTSW |
18 |
37,534,168 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4326:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4326:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4327:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4327:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4329:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4329:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4626:Pcdhb9
|
UTSW |
18 |
37,535,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4738:Pcdhb9
|
UTSW |
18 |
37,536,468 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4888:Pcdhb9
|
UTSW |
18 |
37,536,286 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5140:Pcdhb9
|
UTSW |
18 |
37,534,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Pcdhb9
|
UTSW |
18 |
37,534,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Pcdhb9
|
UTSW |
18 |
37,534,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5586:Pcdhb9
|
UTSW |
18 |
37,534,167 (GRCm39) |
missense |
probably benign |
|
|
R5601:Pcdhb9
|
UTSW |
18 |
37,535,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Pcdhb9
|
UTSW |
18 |
37,534,459 (GRCm39) |
missense |
probably benign |
|
|
R5827:Pcdhb9
|
UTSW |
18 |
37,535,011 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5829:Pcdhb9
|
UTSW |
18 |
37,534,942 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6147:Pcdhb9
|
UTSW |
18 |
37,535,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6228:Pcdhb9
|
UTSW |
18 |
37,535,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6245:Pcdhb9
|
UTSW |
18 |
37,536,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Pcdhb9
|
UTSW |
18 |
37,534,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6542:Pcdhb9
|
UTSW |
18 |
37,534,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6904:Pcdhb9
|
UTSW |
18 |
37,534,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7058:Pcdhb9
|
UTSW |
18 |
37,536,334 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7159:Pcdhb9
|
UTSW |
18 |
37,534,545 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7258:Pcdhb9
|
UTSW |
18 |
37,535,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Pcdhb9
|
UTSW |
18 |
37,534,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8027:Pcdhb9
|
UTSW |
18 |
37,536,069 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8141:Pcdhb9
|
UTSW |
18 |
37,535,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Pcdhb9
|
UTSW |
18 |
37,536,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Pcdhb9
|
UTSW |
18 |
37,535,639 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8748:Pcdhb9
|
UTSW |
18 |
37,535,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Pcdhb9
|
UTSW |
18 |
37,534,468 (GRCm39) |
missense |
probably benign |
|
|
R9083:Pcdhb9
|
UTSW |
18 |
37,535,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Pcdhb9
|
UTSW |
18 |
37,534,665 (GRCm39) |
missense |
probably benign |
|
|
R9779:Pcdhb9
|
UTSW |
18 |
37,535,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAATGGGCAGCTGTTTGC -3'
(R):5'- TCCTTGACCACCAGCAGTAG -3'
Sequencing Primer
(F):5'- GCAGCTGTTTGCACTCAG -3'
(R):5'- ACCACCAGCAGTAGCCTGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation