Incidental Mutation 'R9779:Pcdhb9'
| ID |
733945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37535253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 416
(M416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057228
AA Change: M416L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: M416L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
G |
11: 53,263,734 (GRCm39) |
Y251* |
probably null |
Het |
| Amdhd1 |
G |
T |
10: 93,370,474 (GRCm39) |
F121L |
possibly damaging |
Het |
| Apon |
A |
T |
10: 128,091,065 (GRCm39) |
T248S |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,152,764 (GRCm39) |
I719K |
probably benign |
Het |
| Atf7ip2 |
A |
T |
16: 10,055,044 (GRCm39) |
K270N |
possibly damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,291,919 (GRCm39) |
V881A |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,924,938 (GRCm39) |
T341M |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,968,348 (GRCm39) |
V944A |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,230,786 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,552,113 (GRCm39) |
T342A |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,998,323 (GRCm39) |
E405G |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,460,525 (GRCm39) |
S478P |
probably benign |
Het |
| Diablo |
A |
G |
5: 123,662,132 (GRCm39) |
|
probably null |
Het |
| Dnajc8 |
A |
G |
4: 132,277,737 (GRCm39) |
E174G |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,251 (GRCm39) |
V336A |
probably damaging |
Het |
| Eif5a |
C |
T |
11: 69,810,021 (GRCm39) |
V41I |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,545,093 (GRCm39) |
|
probably null |
Het |
| F12 |
A |
C |
13: 55,566,012 (GRCm39) |
V565G |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,717,353 (GRCm39) |
T389N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,623,062 (GRCm39) |
D69E |
probably benign |
Het |
| Golph3l |
C |
T |
3: 95,499,041 (GRCm39) |
T61I |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,656 (GRCm39) |
N731K |
possibly damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,750,629 (GRCm39) |
S484F |
possibly damaging |
Het |
| Hsd17b11 |
C |
A |
5: 104,157,771 (GRCm39) |
V114F |
probably damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,778 (GRCm39) |
V42M |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,654,065 (GRCm39) |
Y201C |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,574,786 (GRCm39) |
P786T |
unknown |
Het |
| Ints12 |
T |
G |
3: 132,812,752 (GRCm39) |
V236G |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,348,147 (GRCm39) |
N818S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,882,485 (GRCm39) |
L853P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,829,006 (GRCm39) |
V42A |
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,751,807 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra2 |
G |
A |
6: 131,198,801 (GRCm39) |
P247S |
unknown |
Het |
| Lrba |
T |
C |
3: 86,233,078 (GRCm39) |
I813T |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,816,886 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,789 (GRCm39) |
T4046I |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,470 (GRCm39) |
E242G |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,886,009 (GRCm39) |
L316* |
probably null |
Het |
| Notch3 |
A |
G |
17: 32,372,757 (GRCm39) |
Y605H |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,719,352 (GRCm39) |
D650G |
probably damaging |
Het |
| Obscn |
C |
A |
11: 59,026,441 (GRCm39) |
R254L |
probably benign |
Het |
| Odam |
G |
A |
5: 88,037,327 (GRCm39) |
|
probably null |
Het |
| Or5v1b |
A |
T |
17: 37,841,048 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,900,135 (GRCm39) |
M284L |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,947,882 (GRCm39) |
I500N |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,854,318 (GRCm39) |
S285P |
possibly damaging |
Het |
| Rab14 |
G |
A |
2: 35,080,047 (GRCm39) |
T50I |
|
Het |
| Rag1 |
A |
T |
2: 101,474,153 (GRCm39) |
Y330N |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rasgrf1 |
G |
T |
9: 89,873,551 (GRCm39) |
C620F |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,214,317 (GRCm39) |
T143A |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,767,965 (GRCm39) |
M609R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,543,186 (GRCm39) |
D316G |
probably benign |
Het |
| Sod3 |
G |
A |
5: 52,525,435 (GRCm39) |
V45I |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,802 (GRCm39) |
D647G |
probably benign |
Het |
| Tmem119 |
G |
A |
5: 113,933,204 (GRCm39) |
S199L |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,104,419 (GRCm39) |
I80N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,066,469 (GRCm39) |
D752E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,570 (GRCm39) |
S31571P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,667,146 (GRCm39) |
S11487T |
unknown |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,111 (GRCm39) |
M1T |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,308 (GRCm39) |
S279T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,798,972 (GRCm39) |
V3635A |
|
Het |
| Wdr95 |
A |
G |
5: 149,505,293 (GRCm39) |
D358G |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,108,064 (GRCm39) |
D8G |
possibly damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,469 (GRCm39) |
C173S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCTTACCATGTGGAAATCGAGG -3'
(R):5'- TCGTTGATGTCGGACACCTG -3'
Sequencing Primer
(F):5'- TTACCATGTGGAAATCGAGGCCATAG -3'
(R):5'- GGACACCTGCACCTTTATGG -3'
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| Posted On |
2022-11-14 |
Incidental Mutation