Incidental Mutation 'R7462:Cdhr2'
ID |
578526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
045536-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R7462 (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 T
at 54874552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 875
(I875F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: I875F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: I875F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (60/61) |
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 |
Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,494,764 (GRCm39) |
Y924F |
probably damaging |
Het |
Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,271,826 (GRCm39) |
Q247R |
probably benign |
Het |
Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,167,232 (GRCm39) |
V847D |
probably damaging |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
Tmtc1 |
A |
G |
6: 148,226,643 (GRCm39) |
L427P |
probably damaging |
Het |
Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
Zmynd11 |
T |
A |
13: 9,748,720 (GRCm39) |
N154Y |
probably benign |
Het |
Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
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 |
|
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 |
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'- TGTGACTGAGAATGGCTCTGAG -3'
(R):5'- ACTCCCCACTGGACAGATAG -3'
Sequencing Primer
(F):5'- TGAGCATGGCCAGGTGACTC -3'
(R):5'- ACATAACCAGAGACATGGTTGAC -3'
|
Posted On |
2019-10-07 |