Incidental Mutation 'R3196:Pcdhb9'
| ID |
267683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
040617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R3196 (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 37534663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 219
(N219S)
|
| 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: N219S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: N219S
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
| Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
| Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,373,933 (GRCm39) |
I858V |
probably damaging |
Het |
| Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
| Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
| Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
| Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
| Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
| Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,477,174 (GRCm39) |
|
probably null |
Het |
| Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
| Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
| Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
| Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,937,125 (GRCm39) |
D483E |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
| Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
| Wac |
T |
A |
18: 7,917,568 (GRCm39) |
V346E |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
possibly 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 |
|
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'- GACTCTTGAAAAGCCAGTGC -3'
(R):5'- TGTTCACAAACTCAGGAGCATTG -3'
Sequencing Primer
(F):5'- GATCCAGGACATAAATGATCATGCTC -3'
(R):5'- CTCAGGAGCATTGTCATTGATATCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation