Incidental Mutation 'R9113:Cdhr2'
| ID |
692375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
068920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54882700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1222
(D1222G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
[ENSMUST00000099506]
[ENSMUST00000135343]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: D1222G
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D1222G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
48 |
122 |
8.62e-15 |
SMART |
|
CA
|
146 |
239 |
1.4e-2 |
SMART |
|
CA
|
263 |
351 |
2.19e-16 |
SMART |
|
CA
|
391 |
478 |
4.22e-9 |
SMART |
|
CA
|
503 |
584 |
2.15e-24 |
SMART |
|
CA
|
605 |
693 |
6.78e-22 |
SMART |
|
CA
|
715 |
805 |
1.78e-16 |
SMART |
|
CA
|
830 |
925 |
7.57e-11 |
SMART |
|
CA
|
950 |
1042 |
7.1e-2 |
SMART |
|
low complexity region
|
1121 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099506
|
| SMART Domains |
Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
790 |
929 |
4.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135343
|
| SMART Domains |
Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
787 |
932 |
2.6e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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 family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,591,656 (GRCm39) |
I791F |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,822,498 (GRCm39) |
M389T |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,910,877 (GRCm39) |
V1065M |
probably damaging |
Het |
| Agbl1 |
C |
A |
7: 76,239,225 (GRCm39) |
A827E |
unknown |
Het |
| Alox5ap |
T |
C |
5: 149,216,015 (GRCm39) |
F67S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,072 (GRCm39) |
N2566S |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 77,985,701 (GRCm39) |
D722G |
probably damaging |
Het |
| Atp5mf |
A |
G |
5: 145,128,315 (GRCm39) |
L4P |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,940,557 (GRCm39) |
V130A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Chrm4 |
T |
A |
2: 91,758,075 (GRCm39) |
V161E |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,426,144 (GRCm39) |
S1335P |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 113,888,192 (GRCm39) |
Y267* |
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,201,825 (GRCm39) |
Y38H |
unknown |
Het |
| Coro2a |
C |
T |
4: 46,563,047 (GRCm39) |
G36S |
|
Het |
| Ctsc |
A |
T |
7: 87,959,104 (GRCm39) |
K461N |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,712,831 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,880,713 (GRCm39) |
I2628T |
probably damaging |
Het |
| Dnajb5 |
T |
C |
4: 42,953,233 (GRCm39) |
I20T |
probably damaging |
Het |
| Dus2 |
C |
T |
8: 106,775,333 (GRCm39) |
Q287* |
probably null |
Het |
| Fbxl17 |
A |
G |
17: 63,532,085 (GRCm39) |
V586A |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,887,452 (GRCm39) |
|
probably benign |
Het |
| Gm4924 |
G |
A |
10: 82,214,113 (GRCm39) |
C637Y |
unknown |
Het |
| Gorasp1 |
A |
G |
9: 119,757,442 (GRCm39) |
F310S |
probably damaging |
Het |
| Gsta5 |
A |
T |
9: 78,212,667 (GRCm39) |
I213F |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,883,328 (GRCm39) |
T2726I |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,475,231 (GRCm39) |
P940Q |
probably benign |
Het |
| Klk1b22 |
G |
A |
7: 43,765,692 (GRCm39) |
V183M |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,378 (GRCm39) |
M294T |
probably damaging |
Het |
| Krtap6-2 |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
16: 89,216,613 (GRCm39) |
|
probably benign |
Het |
| Lep |
T |
C |
6: 29,071,093 (GRCm39) |
L139P |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,224,532 (GRCm39) |
D64G |
probably damaging |
Het |
| Lyzl1 |
C |
T |
18: 4,168,604 (GRCm39) |
A28V |
probably null |
Het |
| Mcam |
T |
C |
9: 44,051,693 (GRCm39) |
V483A |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,217,053 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,197,782 (GRCm39) |
T742A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,493 (GRCm39) |
Y61C |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,741 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
G |
T |
18: 78,900,948 (GRCm39) |
H906Q |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,670,984 (GRCm39) |
V1032A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,236,140 (GRCm39) |
M285T |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,131,352 (GRCm39) |
Q553* |
probably null |
Het |
| Steap2 |
A |
G |
5: 5,727,475 (GRCm39) |
Y287H |
probably damaging |
Het |
| Tas2r135 |
T |
G |
6: 42,383,315 (GRCm39) |
F285V |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,618,538 (GRCm39) |
T16249A |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,579,343 (GRCm39) |
T299A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,811,288 (GRCm39) |
I457M |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 19,023,883 (GRCm39) |
E437G |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,953,894 (GRCm39) |
E1333V |
probably damaging |
Het |
|
| Other mutations in Cdhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Cdhr2
|
APN |
13 |
54,866,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Cdhr2
|
APN |
13 |
54,868,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00840:Cdhr2
|
APN |
13 |
54,867,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00956:Cdhr2
|
APN |
13 |
54,866,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01101:Cdhr2
|
APN |
13 |
54,865,948 (GRCm39) |
splice site |
probably benign |
|
|
IGL01150:Cdhr2
|
APN |
13 |
54,878,931 (GRCm39) |
missense |
probably benign |
|
|
IGL01412:Cdhr2
|
APN |
13 |
54,873,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01515:Cdhr2
|
APN |
13 |
54,866,051 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02005:Cdhr2
|
APN |
13 |
54,867,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02187:Cdhr2
|
APN |
13 |
54,881,523 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02312:Cdhr2
|
APN |
13 |
54,865,701 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02877:Cdhr2
|
APN |
13 |
54,882,550 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03072:Cdhr2
|
APN |
13 |
54,874,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03263:Cdhr2
|
APN |
13 |
54,865,926 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
FR4449:Cdhr2
|
UTSW |
13 |
54,873,737 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4494001:Cdhr2
|
UTSW |
13 |
54,866,255 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4498001:Cdhr2
|
UTSW |
13 |
54,866,052 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0041:Cdhr2
|
UTSW |
13 |
54,874,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Cdhr2
|
UTSW |
13 |
54,881,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Cdhr2
|
UTSW |
13 |
54,882,614 (GRCm39) |
unclassified |
probably benign |
|
|
R0361:Cdhr2
|
UTSW |
13 |
54,881,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Cdhr2
|
UTSW |
13 |
54,866,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0598:Cdhr2
|
UTSW |
13 |
54,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0774:Cdhr2
|
UTSW |
13 |
54,865,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Cdhr2
|
UTSW |
13 |
54,882,081 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1458:Cdhr2
|
UTSW |
13 |
54,865,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1659:Cdhr2
|
UTSW |
13 |
54,867,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Cdhr2
|
UTSW |
13 |
54,867,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Cdhr2
|
UTSW |
13 |
54,868,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Cdhr2
|
UTSW |
13 |
54,863,457 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2135:Cdhr2
|
UTSW |
13 |
54,868,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Cdhr2
|
UTSW |
13 |
54,865,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3693:Cdhr2
|
UTSW |
13 |
54,874,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3968:Cdhr2
|
UTSW |
13 |
54,874,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Cdhr2
|
UTSW |
13 |
54,874,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4001:Cdhr2
|
UTSW |
13 |
54,866,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4003:Cdhr2
|
UTSW |
13 |
54,866,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4030:Cdhr2
|
UTSW |
13 |
54,865,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cdhr2
|
UTSW |
13 |
54,865,701 (GRCm39) |
missense |
probably null |
0.97 |
|
R4256:Cdhr2
|
UTSW |
13 |
54,861,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4322:Cdhr2
|
UTSW |
13 |
54,881,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4396:Cdhr2
|
UTSW |
13 |
54,863,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4591:Cdhr2
|
UTSW |
13 |
54,863,497 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4726:Cdhr2
|
UTSW |
13 |
54,866,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5370:Cdhr2
|
UTSW |
13 |
54,868,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Cdhr2
|
UTSW |
13 |
54,884,269 (GRCm39) |
missense |
probably benign |
|
|
R5447:Cdhr2
|
UTSW |
13 |
54,881,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Cdhr2
|
UTSW |
13 |
54,884,349 (GRCm39) |
missense |
probably benign |
|
|
R5727:Cdhr2
|
UTSW |
13 |
54,872,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5771:Cdhr2
|
UTSW |
13 |
54,874,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5924:Cdhr2
|
UTSW |
13 |
54,874,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5928:Cdhr2
|
UTSW |
13 |
54,881,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6246:Cdhr2
|
UTSW |
13 |
54,867,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Cdhr2
|
UTSW |
13 |
54,874,589 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6358:Cdhr2
|
UTSW |
13 |
54,884,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6433:Cdhr2
|
UTSW |
13 |
54,866,325 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7044:Cdhr2
|
UTSW |
13 |
54,881,134 (GRCm39) |
nonsense |
probably null |
|
|
R7341:Cdhr2
|
UTSW |
13 |
54,867,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7462:Cdhr2
|
UTSW |
13 |
54,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Cdhr2
|
UTSW |
13 |
54,865,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7763:Cdhr2
|
UTSW |
13 |
54,865,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Cdhr2
|
UTSW |
13 |
54,866,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Cdhr2
|
UTSW |
13 |
54,882,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8069:Cdhr2
|
UTSW |
13 |
54,878,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Cdhr2
|
UTSW |
13 |
54,867,606 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8129:Cdhr2
|
UTSW |
13 |
54,864,208 (GRCm39) |
splice site |
probably null |
|
|
R8829:Cdhr2
|
UTSW |
13 |
54,865,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Cdhr2
|
UTSW |
13 |
54,874,184 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9050:Cdhr2
|
UTSW |
13 |
54,883,133 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9205:Cdhr2
|
UTSW |
13 |
54,861,801 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9281:Cdhr2
|
UTSW |
13 |
54,881,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9290:Cdhr2
|
UTSW |
13 |
54,882,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9621:Cdhr2
|
UTSW |
13 |
54,866,350 (GRCm39) |
missense |
|
|
|
R9647:Cdhr2
|
UTSW |
13 |
54,867,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Cdhr2
|
UTSW |
13 |
54,867,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Cdhr2
|
UTSW |
13 |
54,872,041 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,874,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,863,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCCCGAAAGACACCAAT -3'
(R):5'- TTATTACCATGACCACCATCACC -3'
Sequencing Primer
(F):5'- TAGAGACGACAGCTCCAACTG -3'
(R):5'- TTATCACCATGACCACCATCAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation