Incidental Mutation 'R9567:Pcdhgb5'
| ID |
721726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb5
|
| Ensembl Gene |
ENSMUSG00000103749 |
| Gene Name |
protocadherin gamma subfamily B, 5 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R9567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37864062-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37864982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 259
(T259I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| AlphaFold |
Q91XX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
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: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192535
AA Change: T259I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: T259I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,602,793 (GRCm39) |
P52S |
probably damaging |
Het |
| 6820408C15Rik |
C |
A |
2: 152,270,867 (GRCm39) |
P30Q |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,118,210 (GRCm39) |
V569I |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,174,133 (GRCm39) |
L92Q |
probably damaging |
Het |
| Ahi1 |
C |
T |
10: 20,857,300 (GRCm39) |
H632Y |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,311 (GRCm39) |
N3720D |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,742,687 (GRCm39) |
S835P |
possibly damaging |
Het |
| Amer3 |
C |
T |
1: 34,627,836 (GRCm39) |
L692F |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,044,880 (GRCm39) |
D342V |
unknown |
Het |
| Arap2 |
G |
T |
5: 62,761,841 (GRCm39) |
F1628L |
probably benign |
Het |
| Arhgap21 |
T |
G |
2: 20,896,953 (GRCm39) |
I108L |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,612,487 (GRCm39) |
I404V |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 28,627,268 (GRCm39) |
A1077E |
probably benign |
Het |
| Cacng6 |
T |
C |
7: 3,483,281 (GRCm39) |
V203A |
probably benign |
Het |
| Clec1b |
A |
T |
6: 129,382,201 (GRCm39) |
D226V |
possibly damaging |
Het |
| Crb1 |
A |
C |
1: 139,171,208 (GRCm39) |
S727R |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,343,112 (GRCm39) |
I35V |
|
Het |
| Ddo |
T |
A |
10: 40,523,913 (GRCm39) |
V301D |
probably damaging |
Het |
| Diablo |
C |
A |
5: 123,662,196 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
A |
5: 108,057,368 (GRCm39) |
K397* |
probably null |
Het |
| Dnhd1 |
C |
A |
7: 105,353,473 (GRCm39) |
H2875Q |
probably benign |
Het |
| E230025N22Rik |
A |
G |
18: 36,820,336 (GRCm39) |
L282P |
|
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,190 (GRCm39) |
Q21R |
probably benign |
Het |
| Exoc7 |
C |
T |
11: 116,195,724 (GRCm39) |
V93I |
probably benign |
Het |
| Foxk1 |
T |
A |
5: 142,387,713 (GRCm39) |
Y145* |
probably null |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,798,173 (GRCm39) |
T489M |
probably benign |
Het |
| Gbf1 |
C |
T |
19: 46,260,046 (GRCm39) |
T1067I |
|
Het |
| Ggta1 |
T |
A |
2: 35,313,333 (GRCm39) |
T3S |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,721,951 (GRCm39) |
V370E |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,384,472 (GRCm39) |
S81G |
probably benign |
Het |
| Igf2r |
G |
A |
17: 12,905,641 (GRCm39) |
T2230I |
probably damaging |
Het |
| Ighmbp2 |
A |
T |
19: 3,332,785 (GRCm39) |
M1K |
probably null |
Het |
| Klhdc9 |
T |
C |
1: 171,187,914 (GRCm39) |
T106A |
probably benign |
Het |
| Kti12 |
T |
C |
4: 108,705,935 (GRCm39) |
M283T |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,845,964 (GRCm39) |
P798S |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,469 (GRCm39) |
F333L |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,746,757 (GRCm39) |
D178E |
probably benign |
Het |
| Magi1 |
G |
A |
6: 93,655,431 (GRCm39) |
A1405V |
probably damaging |
Het |
| Magi1 |
A |
C |
6: 93,659,931 (GRCm39) |
|
probably null |
Het |
| Mdga1 |
G |
A |
17: 30,076,569 (GRCm39) |
P68S |
probably damaging |
Het |
| Mfsd8 |
T |
C |
3: 40,793,933 (GRCm39) |
S25G |
probably benign |
Het |
| Mgat1 |
C |
A |
11: 49,152,694 (GRCm39) |
S392R |
probably benign |
Het |
| Mtmr2 |
C |
T |
9: 13,713,301 (GRCm39) |
Q493* |
probably null |
Het |
| Myocd |
A |
T |
11: 65,078,410 (GRCm39) |
S462T |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,681,164 (GRCm39) |
Y481C |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,065,138 (GRCm39) |
R6258S |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,063,624 (GRCm39) |
M11V |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,035,604 (GRCm39) |
S658P |
possibly damaging |
Het |
| Obox2 |
T |
A |
7: 15,130,771 (GRCm39) |
M1K |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,115,037 (GRCm39) |
Y134* |
probably null |
Het |
| Or10g9 |
T |
A |
9: 39,912,367 (GRCm39) |
H52L |
possibly damaging |
Het |
| Or1e20-ps1 |
G |
T |
11: 73,324,789 (GRCm39) |
H88N |
unknown |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,884 (GRCm39) |
I144F |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,763,436 (GRCm39) |
T685A |
|
Het |
| Pecam1 |
T |
C |
11: 106,588,121 (GRCm39) |
T139A |
possibly damaging |
Het |
| Pi15 |
T |
A |
1: 17,695,178 (GRCm39) |
L265Q |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,394,173 (GRCm39) |
F2053L |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,900 (GRCm39) |
I353V |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,157,004 (GRCm39) |
S961G |
probably benign |
Het |
| Rbm42 |
T |
C |
7: 30,345,395 (GRCm39) |
R151G |
possibly damaging |
Het |
| Rnf224 |
T |
C |
2: 25,126,354 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
| Slc17a5 |
T |
A |
9: 78,445,562 (GRCm39) |
Q457L |
possibly damaging |
Het |
| Slc5a4a |
A |
T |
10: 76,022,396 (GRCm39) |
D577V |
probably benign |
Het |
| Stim2 |
A |
G |
5: 54,232,707 (GRCm39) |
D123G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,061,734 (GRCm39) |
F359L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,196,386 (GRCm39) |
D3882G |
possibly damaging |
Het |
| Synj1 |
G |
T |
16: 90,790,912 (GRCm39) |
S83Y |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,479,029 (GRCm39) |
T199I |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,669,644 (GRCm39) |
S1389T |
probably benign |
Het |
| Tiam1 |
T |
A |
16: 89,591,653 (GRCm39) |
D1349V |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ucn3 |
T |
A |
13: 3,991,313 (GRCm39) |
D113V |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,306,370 (GRCm39) |
D173G |
possibly damaging |
Het |
| Uimc1 |
C |
A |
13: 55,188,427 (GRCm39) |
R544L |
possibly damaging |
Het |
| Unc13c |
T |
C |
9: 73,536,485 (GRCm39) |
S1623G |
probably damaging |
Het |
| Vmn2r41 |
T |
C |
7: 8,141,391 (GRCm39) |
N691S |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,043,190 (GRCm39) |
M4K |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,741,454 (GRCm39) |
F332L |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,903,466 (GRCm39) |
V1080A |
probably benign |
Het |
| Zc3h3 |
A |
T |
15: 75,651,261 (GRCm39) |
I653N |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,517 (GRCm39) |
H69L |
possibly damaging |
Het |
| Zfp362 |
T |
A |
4: 128,688,681 (GRCm39) |
M1L |
unknown |
Het |
| Zfp503 |
A |
G |
14: 22,036,041 (GRCm39) |
C292R |
possibly damaging |
Het |
|
| Other mutations in Pcdhgb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4200:Pcdhgb5
|
UTSW |
18 |
37,865,035 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4205:Pcdhgb5
|
UTSW |
18 |
37,865,716 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4880:Pcdhgb5
|
UTSW |
18 |
37,865,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5482:Pcdhgb5
|
UTSW |
18 |
37,864,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Pcdhgb5
|
UTSW |
18 |
37,864,690 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5683:Pcdhgb5
|
UTSW |
18 |
37,864,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Pcdhgb5
|
UTSW |
18 |
37,864,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6127:Pcdhgb5
|
UTSW |
18 |
37,865,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6216:Pcdhgb5
|
UTSW |
18 |
37,864,981 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6279:Pcdhgb5
|
UTSW |
18 |
37,865,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Pcdhgb5
|
UTSW |
18 |
37,865,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Pcdhgb5
|
UTSW |
18 |
37,865,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Pcdhgb5
|
UTSW |
18 |
37,864,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Pcdhgb5
|
UTSW |
18 |
37,864,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Pcdhgb5
|
UTSW |
18 |
37,866,457 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6942:Pcdhgb5
|
UTSW |
18 |
37,865,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Pcdhgb5
|
UTSW |
18 |
37,864,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Pcdhgb5
|
UTSW |
18 |
37,866,592 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7061:Pcdhgb5
|
UTSW |
18 |
37,864,976 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7506:Pcdhgb5
|
UTSW |
18 |
37,865,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Pcdhgb5
|
UTSW |
18 |
37,865,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Pcdhgb5
|
UTSW |
18 |
37,864,690 (GRCm39) |
missense |
not run |
|
|
R7776:Pcdhgb5
|
UTSW |
18 |
37,866,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Pcdhgb5
|
UTSW |
18 |
37,866,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Pcdhgb5
|
UTSW |
18 |
37,865,240 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8836:Pcdhgb5
|
UTSW |
18 |
37,865,260 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8854:Pcdhgb5
|
UTSW |
18 |
37,865,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9063:Pcdhgb5
|
UTSW |
18 |
37,864,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Pcdhgb5
|
UTSW |
18 |
37,864,838 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9490:Pcdhgb5
|
UTSW |
18 |
37,865,240 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9620:Pcdhgb5
|
UTSW |
18 |
37,864,486 (GRCm39) |
nonsense |
probably null |
|
|
R9655:Pcdhgb5
|
UTSW |
18 |
37,865,122 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGAAAACTTTAGACCGCG -3'
(R):5'- CTGTACATTGTGCAACCAGG -3'
Sequencing Primer
(F):5'- TTTAGACCGCGAGCAACAG -3'
(R):5'- ATTGTGCAACCAGGCCTCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation