Incidental Mutation 'R9668:Pcdhgb6'
| ID |
727960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb6
|
| Ensembl Gene |
ENSMUSG00000103088 |
| Gene Name |
protocadherin gamma subfamily B, 6 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R9668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37875147-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37875561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 90
(I90L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| AlphaFold |
Q91XX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
AA Change: I90L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: I90L
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| 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: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
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 benign
Transcript: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| 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: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
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: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,089,137 (GRCm39) |
Y60* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,314,562 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
G |
A |
7: 66,797,438 (GRCm39) |
V1052I |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,368,594 (GRCm39) |
E42V |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,164,579 (GRCm39) |
|
probably null |
Het |
| Atp5pb |
C |
T |
3: 105,863,356 (GRCm39) |
V27I |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,671,418 (GRCm39) |
S494P |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 34,065,113 (GRCm39) |
C82Y |
probably damaging |
Het |
| Cdc16 |
T |
A |
8: 13,817,552 (GRCm39) |
S288T |
possibly damaging |
Het |
| Chrne |
A |
G |
11: 70,507,779 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,546,960 (GRCm39) |
Q2291* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,213,649 (GRCm39) |
S794G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,261,772 (GRCm39) |
D908E |
probably benign |
Het |
| Dpf1 |
C |
T |
7: 29,009,084 (GRCm39) |
Q70* |
probably null |
Het |
| Fam227a |
A |
T |
15: 79,526,444 (GRCm39) |
N129K |
probably benign |
Het |
| Fcho2 |
T |
A |
13: 98,913,965 (GRCm39) |
I211F |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,247,574 (GRCm39) |
D167G |
probably benign |
Het |
| Flt3 |
G |
A |
5: 147,293,694 (GRCm39) |
P461S |
probably benign |
Het |
| Fry |
G |
T |
5: 150,282,318 (GRCm39) |
A314S |
probably damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,026 (GRCm39) |
S296P |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,362 (GRCm39) |
V291G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,619,492 (GRCm39) |
S1207R |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,840,885 (GRCm39) |
P6L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 943,075 (GRCm39) |
S1519R |
possibly damaging |
Het |
| Kpna2 |
G |
A |
11: 106,881,541 (GRCm39) |
T363I |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,075,982 (GRCm39) |
H1886Q |
|
Het |
| Meak7 |
T |
C |
8: 120,488,514 (GRCm39) |
E436G |
probably damaging |
Het |
| Mettl5 |
C |
T |
2: 69,711,723 (GRCm39) |
D48N |
probably benign |
Het |
| Mfsd4a |
C |
T |
1: 131,969,628 (GRCm39) |
G442S |
probably damaging |
Het |
| Mief2 |
A |
G |
11: 60,622,074 (GRCm39) |
T215A |
probably damaging |
Het |
| Myt1 |
C |
T |
2: 181,452,135 (GRCm39) |
T824I |
probably damaging |
Het |
| Naprt |
C |
A |
15: 75,765,281 (GRCm39) |
V148L |
possibly damaging |
Het |
| Nckap1l |
C |
T |
15: 103,382,277 (GRCm39) |
R491C |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,071,573 (GRCm39) |
M321T |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,610,383 (GRCm39) |
I355N |
possibly damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,183 (GRCm39) |
G147D |
possibly damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,898 (GRCm39) |
N88Y |
probably benign |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,658 (GRCm39) |
I64T |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,518 (GRCm39) |
M98R |
probably damaging |
Het |
| Or4a80 |
T |
G |
2: 89,582,636 (GRCm39) |
I179L |
probably benign |
Het |
| Or4k35 |
T |
G |
2: 111,100,287 (GRCm39) |
I142L |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,876,634 (GRCm39) |
D320G |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,221,459 (GRCm39) |
S682P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plagl1 |
A |
G |
10: 13,004,466 (GRCm39) |
Q578R |
unknown |
Het |
| Ppp1r42 |
A |
G |
1: 10,073,563 (GRCm39) |
I9T |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,871,275 (GRCm39) |
I315K |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,402 (GRCm39) |
L260P |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,968,975 (GRCm39) |
H525L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,244,347 (GRCm39) |
M303K |
probably benign |
Het |
| Shprh |
A |
T |
10: 11,082,076 (GRCm39) |
I1549F |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,570,772 (GRCm39) |
A244D |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,740 (GRCm39) |
T63K |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,898,468 (GRCm39) |
S962P |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,711,135 (GRCm39) |
I133V |
probably damaging |
Het |
| Tars1 |
T |
A |
15: 11,394,446 (GRCm39) |
K64* |
probably null |
Het |
| Tcaf3 |
A |
T |
6: 42,566,636 (GRCm39) |
W818R |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Trim72 |
C |
A |
7: 127,609,092 (GRCm39) |
A298E |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,218,062 (GRCm39) |
|
probably null |
Het |
| Zfp707 |
C |
A |
15: 75,847,085 (GRCm39) |
F378L |
possibly damaging |
Het |
| Zfp839 |
G |
A |
12: 110,822,280 (GRCm39) |
A365T |
probably damaging |
Het |
|
| Other mutations in Pcdhgb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Pcdhgb6
|
APN |
18 |
37,876,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Pcdhgb6
|
UTSW |
18 |
37,875,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4921:Pcdhgb6
|
UTSW |
18 |
37,876,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5019:Pcdhgb6
|
UTSW |
18 |
37,875,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Pcdhgb6
|
UTSW |
18 |
37,875,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5828:Pcdhgb6
|
UTSW |
18 |
37,877,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6056:Pcdhgb6
|
UTSW |
18 |
37,876,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6242:Pcdhgb6
|
UTSW |
18 |
37,876,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6375:Pcdhgb6
|
UTSW |
18 |
37,875,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6836:Pcdhgb6
|
UTSW |
18 |
37,876,015 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6973:Pcdhgb6
|
UTSW |
18 |
37,875,526 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7185:Pcdhgb6
|
UTSW |
18 |
37,876,701 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7994:Pcdhgb6
|
UTSW |
18 |
37,875,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Pcdhgb6
|
UTSW |
18 |
37,875,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8460:Pcdhgb6
|
UTSW |
18 |
37,877,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8558:Pcdhgb6
|
UTSW |
18 |
37,877,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Pcdhgb6
|
UTSW |
18 |
37,875,975 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8808:Pcdhgb6
|
UTSW |
18 |
37,876,451 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9350:Pcdhgb6
|
UTSW |
18 |
37,876,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9707:Pcdhgb6
|
UTSW |
18 |
37,876,768 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9765:Pcdhgb6
|
UTSW |
18 |
37,876,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTGTTTACCCTGCTGC -3'
(R):5'- CAACCGCCACAGTTTCTAAG -3'
Sequencing Primer
(F):5'- TGTTCTGTCCCGCGCTGG -3'
(R):5'- AACCGCCACAGTTTCTAAGATTTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation