Incidental Mutation 'R7159:Pcdhb9'
ID |
557541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb9
|
Ensembl Gene |
ENSMUSG00000051242 |
Gene Name |
protocadherin beta 9 |
Synonyms |
Pcdhb4C, PcdhbI |
MMRRC Submission |
045259-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R7159 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37534545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 180
(N180D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
E9Q5G2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057228
AA Change: N180D
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000058801 Gene: ENSMUSG00000051242 AA Change: N180D
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
A |
7: 75,380,327 (GRCm39) |
V500E |
possibly damaging |
Het |
Ankrd34b |
T |
C |
13: 92,575,970 (GRCm39) |
S401P |
probably benign |
Het |
Arfgef2 |
T |
A |
2: 166,668,848 (GRCm39) |
D41E |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,480,879 (GRCm39) |
N15S |
unknown |
Het |
Arsa |
A |
T |
15: 89,358,921 (GRCm39) |
|
probably null |
Het |
B3gnt9 |
C |
A |
8: 105,981,064 (GRCm39) |
C108F |
probably damaging |
Het |
Bbc3 |
C |
A |
7: 16,047,733 (GRCm39) |
Y152* |
probably null |
Het |
Btbd1 |
T |
C |
7: 81,467,957 (GRCm39) |
M188V |
probably benign |
Het |
Caln1 |
C |
T |
5: 130,851,838 (GRCm39) |
T209I |
probably benign |
Het |
Casp12 |
C |
T |
9: 5,353,763 (GRCm39) |
P266S |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,912,787 (GRCm39) |
I109F |
probably damaging |
Het |
Chst15 |
A |
C |
7: 131,871,987 (GRCm39) |
L98R |
probably damaging |
Het |
Ctsq |
A |
G |
13: 61,186,737 (GRCm39) |
M89T |
probably benign |
Het |
Ddx39b |
T |
C |
17: 35,465,986 (GRCm39) |
V169A |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,678,927 (GRCm39) |
H583R |
probably benign |
Het |
Fndc1 |
T |
A |
17: 8,019,763 (GRCm39) |
I139F |
probably damaging |
Het |
Gm7145 |
C |
G |
1: 117,913,561 (GRCm39) |
H148D |
probably benign |
Het |
Gpr62 |
C |
A |
9: 106,342,641 (GRCm39) |
A96S |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,475,618 (GRCm39) |
|
probably null |
Het |
Hdhd5 |
T |
A |
6: 120,500,432 (GRCm39) |
T89S |
probably damaging |
Het |
Kcna5 |
T |
A |
6: 126,510,592 (GRCm39) |
Y512F |
probably damaging |
Het |
Krt84 |
C |
A |
15: 101,438,044 (GRCm39) |
E304* |
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lrp6 |
C |
A |
6: 134,484,514 (GRCm39) |
V370L |
probably benign |
Het |
Lrrc3c |
G |
A |
11: 98,490,144 (GRCm39) |
G167D |
probably damaging |
Het |
Man2b1 |
C |
T |
8: 85,813,909 (GRCm39) |
T291M |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,855,613 (GRCm39) |
E1438G |
possibly damaging |
Het |
Med12l |
A |
G |
3: 59,183,438 (GRCm39) |
T1947A |
probably benign |
Het |
Myh15 |
A |
T |
16: 48,881,937 (GRCm39) |
T60S |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,078,845 (GRCm39) |
I868F |
probably benign |
Het |
Myom3 |
A |
T |
4: 135,536,162 (GRCm39) |
I1278F |
probably damaging |
Het |
Nbn |
G |
T |
4: 15,983,677 (GRCm39) |
|
probably null |
Het |
Ncam2 |
G |
T |
16: 81,287,262 (GRCm39) |
S392I |
probably damaging |
Het |
Nrg3 |
A |
C |
14: 38,092,692 (GRCm39) |
L647* |
probably null |
Het |
Or10j7 |
A |
T |
1: 173,011,890 (GRCm39) |
L37Q |
possibly damaging |
Het |
Or2t35 |
T |
C |
14: 14,407,251 (GRCm38) |
S8P |
possibly damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,185 (GRCm39) |
D70V |
probably damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,956 (GRCm39) |
|
probably null |
Het |
Pcdhga4 |
A |
G |
18: 37,819,972 (GRCm39) |
N507S |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,087,174 (GRCm39) |
V492A |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,914,366 (GRCm39) |
T603A |
possibly damaging |
Het |
Phox2b |
T |
A |
5: 67,254,928 (GRCm39) |
I174F |
probably benign |
Het |
Polq |
A |
T |
16: 36,883,215 (GRCm39) |
Q1793L |
possibly damaging |
Het |
Prmt9 |
T |
C |
8: 78,282,393 (GRCm39) |
F97L |
probably benign |
Het |
Prpsap1 |
T |
C |
11: 116,384,870 (GRCm39) |
E13G |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,851 (GRCm39) |
L280P |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,299,659 (GRCm39) |
S124G |
probably benign |
Het |
Rdh5 |
A |
G |
10: 128,754,184 (GRCm39) |
I83T |
possibly damaging |
Het |
Rigi |
A |
G |
4: 40,213,804 (GRCm39) |
V618A |
probably benign |
Het |
Ryr2 |
T |
G |
13: 11,825,794 (GRCm39) |
R561S |
probably damaging |
Het |
Scara3 |
A |
G |
14: 66,158,229 (GRCm39) |
L593P |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,692,004 (GRCm39) |
I93V |
probably benign |
Het |
Sema4f |
C |
A |
6: 82,894,864 (GRCm39) |
V444L |
possibly damaging |
Het |
Slco1a7 |
T |
A |
6: 141,719,504 (GRCm39) |
M1L |
probably damaging |
Het |
Spata33 |
T |
C |
8: 123,941,134 (GRCm39) |
L61P |
unknown |
Het |
Stard10 |
A |
T |
7: 100,992,343 (GRCm39) |
|
probably null |
Het |
Stub1 |
T |
C |
17: 26,051,038 (GRCm39) |
I115V |
probably benign |
Het |
Tlcd3b |
T |
C |
7: 126,426,667 (GRCm39) |
F80S |
probably damaging |
Het |
Tmem247 |
C |
T |
17: 87,225,710 (GRCm39) |
T50I |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,771,223 (GRCm39) |
M1103V |
possibly damaging |
Het |
Trim61 |
T |
C |
8: 65,466,526 (GRCm39) |
Y245C |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,068,130 (GRCm39) |
I284V |
probably benign |
Het |
Trpm4 |
T |
C |
7: 44,976,692 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
A |
2: 76,740,092 (GRCm39) |
L3528F |
unknown |
Het |
Ttn |
A |
G |
2: 76,560,918 (GRCm39) |
L29161S |
probably damaging |
Het |
Ube2v2 |
G |
A |
16: 15,398,948 (GRCm39) |
T47I |
probably benign |
Het |
Vwa5b1 |
C |
T |
4: 138,302,733 (GRCm39) |
A921T |
possibly damaging |
Het |
Xylt1 |
T |
A |
7: 117,236,829 (GRCm39) |
F526Y |
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 |
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'- AGACTGGAGATTTGCTTCTGAG -3'
(R):5'- TGTGAGGGTTAAGCTCAGCTC -3'
Sequencing Primer
(F):5'- TTTGCTTCTGAGGGAGAAAGTAGACC -3'
(R):5'- GGTTAAGCTCAGCTCTGCCTG -3'
|
Posted On |
2019-06-26 |