Incidental Mutation 'R5447:Cdhr2'
ID |
429151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
043012-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5447 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54881063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1042
(D1042G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
[ENSMUST00000099506]
[ENSMUST00000135343]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: D1042G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: D1042G
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 |
|
Meta Mutation Damage Score |
0.6180 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (71/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
possibly 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 |
|
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 |
R9113:Cdhr2
|
UTSW |
13 |
54,882,700 (GRCm39) |
missense |
probably benign |
0.22 |
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'- GGCCTCTTTAAAGTAAGATGGGG -3'
(R):5'- TTGGGGTACAGACACAGGAC -3'
Sequencing Primer
(F):5'- AGTGTGGAAGAGCCTGTGC -3'
(R):5'- TACAGACACAGGACCAAAGGTG -3'
|
Posted On |
2016-09-06 |