Incidental Mutation 'R0180:Pcdhb9'
| ID |
23879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0180 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37535307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 434
(N434D)
|
| 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: N434D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: N434D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 89.5%
|
| Validation Efficiency |
77% (53/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,630,003 (GRCm39) |
N24Y |
probably damaging |
Het |
| 2810408A11Rik |
A |
T |
11: 69,789,702 (GRCm39) |
M311K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,737,982 (GRCm39) |
I119T |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,198 (GRCm39) |
M336V |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,634,082 (GRCm39) |
F374I |
probably benign |
Het |
| Apob |
C |
T |
12: 8,058,285 (GRCm39) |
Q2256* |
probably null |
Het |
| Arg1 |
T |
C |
10: 24,792,728 (GRCm39) |
I169V |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| B3gnt5 |
T |
A |
16: 19,587,850 (GRCm39) |
I23K |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,856 (GRCm39) |
|
probably null |
Het |
| Celf3 |
T |
A |
3: 94,392,647 (GRCm39) |
F115L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,968,559 (GRCm39) |
H984Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,351 (GRCm39) |
V493A |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,450,620 (GRCm39) |
G376S |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,890 (GRCm39) |
H356R |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cracr2a |
T |
C |
6: 127,581,037 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,310,559 (GRCm39) |
H62R |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,878,641 (GRCm39) |
W61L |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,116 (GRCm39) |
H140P |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,128,944 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
G |
2: 32,218,005 (GRCm39) |
I464L |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,713 (GRCm39) |
M297V |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,124,755 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
T |
9: 101,804,703 (GRCm39) |
M905K |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,743,922 (GRCm39) |
Y276C |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,979,711 (GRCm39) |
S474I |
possibly damaging |
Het |
| Frg1 |
T |
A |
8: 41,852,105 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,274,161 (GRCm39) |
S1732P |
probably benign |
Het |
| Gbp8 |
A |
C |
5: 105,179,142 (GRCm39) |
L119R |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,078,217 (GRCm39) |
A927T |
possibly damaging |
Het |
| Gm8836 |
T |
A |
6: 70,237,389 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
T |
4: 135,281,841 (GRCm39) |
V344I |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,329 (GRCm39) |
L745H |
probably damaging |
Het |
| Ido1 |
T |
C |
8: 25,083,156 (GRCm39) |
I90V |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,403,407 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,298,116 (GRCm39) |
S1029R |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,738,148 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,698,115 (GRCm39) |
N215D |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,089,368 (GRCm39) |
K144E |
probably benign |
Het |
| Mfsd6l |
A |
T |
11: 68,447,371 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,312,450 (GRCm39) |
S546T |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,955,804 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
G |
A |
9: 44,166,756 (GRCm39) |
H776Y |
possibly damaging |
Het |
| Nptxr |
T |
C |
15: 79,678,604 (GRCm39) |
M228V |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,821,606 (GRCm39) |
L13F |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,736,283 (GRCm39) |
E68G |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,703 (GRCm39) |
R307S |
possibly damaging |
Het |
| Or51r1 |
A |
G |
7: 102,228,239 (GRCm39) |
Y179C |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,127 (GRCm39) |
D313G |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,529,299 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
C |
1: 135,814,538 (GRCm39) |
K261R |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,574,250 (GRCm39) |
|
probably null |
Het |
| Polr3b |
A |
G |
10: 84,458,379 (GRCm39) |
T17A |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,845,477 (GRCm39) |
M98K |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,618,379 (GRCm39) |
D142G |
probably benign |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,042 (GRCm39) |
V153D |
possibly damaging |
Het |
| Slc6a3 |
C |
T |
13: 73,710,455 (GRCm39) |
T355M |
probably damaging |
Het |
| Snrnp35 |
A |
T |
5: 124,628,883 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,311,189 (GRCm39) |
I37N |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,278,109 (GRCm39) |
P1133Q |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,124 (GRCm39) |
I413V |
probably benign |
Het |
| Trappc11 |
G |
T |
8: 47,981,009 (GRCm39) |
T144K |
possibly damaging |
Het |
| Triml2 |
A |
T |
8: 43,643,346 (GRCm39) |
I223L |
probably benign |
Het |
| Ube2g2 |
T |
A |
10: 77,466,573 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,047 (GRCm39) |
Y348H |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,124,372 (GRCm39) |
F840L |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,549,349 (GRCm39) |
I771V |
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp106 |
T |
G |
2: 120,364,356 (GRCm39) |
T684P |
probably damaging |
Het |
| Zfp217 |
A |
T |
2: 169,962,057 (GRCm39) |
L90Q |
probably damaging |
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 |
|
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 |
|
R5837:Pcdhb9
|
UTSW |
18 |
37,535,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGATGTGAATGACAATGCCCCAGAG -3'
(R):5'- TTAACGAAGAGAGGGCCAGTTCCG -3'
Sequencing Primer
(F):5'- AGAGCTGACCATATCTTCACTG -3'
(R):5'- TTCTCGCGGACAAACATGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation