Incidental Mutation 'R8829:Cdhr2'
| ID |
673712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
068731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54865930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 278
(Y278F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: Y278F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: Y278F
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
T |
3: 59,939,240 (GRCm39) |
I5F |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,571,881 (GRCm39) |
D4814V |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,665,458 (GRCm39) |
N1382D |
|
Het |
| Adh6b |
T |
C |
3: 138,055,463 (GRCm39) |
V71A |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,649 (GRCm39) |
M953L |
probably benign |
Het |
| B3galt9 |
T |
A |
2: 34,728,634 (GRCm39) |
N144K |
probably benign |
Het |
| Bach2 |
A |
T |
4: 32,562,028 (GRCm39) |
E165V |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,158,064 (GRCm39) |
K409E |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,397,269 (GRCm39) |
V1078A |
probably benign |
Het |
| Ccno |
A |
G |
13: 113,126,239 (GRCm39) |
N236S |
probably benign |
Het |
| Ccpg1 |
A |
T |
9: 72,917,633 (GRCm39) |
D255V |
probably benign |
Het |
| Cdk17 |
C |
T |
10: 93,042,920 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,582 (GRCm39) |
D2216G |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,026,496 (GRCm39) |
L294P |
probably damaging |
Het |
| Chct1 |
A |
G |
11: 85,062,037 (GRCm39) |
D12G |
probably damaging |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
G |
A |
6: 77,582,205 (GRCm39) |
R352* |
probably null |
Het |
| D630003M21Rik |
C |
A |
2: 158,058,856 (GRCm39) |
C348F |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,294,051 (GRCm39) |
Q236* |
probably null |
Het |
| Ddx60 |
T |
G |
8: 62,393,695 (GRCm39) |
S44A |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,059,720 (GRCm39) |
|
probably null |
Het |
| Drd5 |
G |
A |
5: 38,477,078 (GRCm39) |
V24M |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 62,971,608 (GRCm39) |
S144P |
probably benign |
Het |
| Fcna |
C |
A |
2: 25,516,145 (GRCm39) |
R124L |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,918,431 (GRCm39) |
R504G |
probably damaging |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Gprc6a |
A |
C |
10: 51,491,295 (GRCm39) |
I818R |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,574,179 (GRCm39) |
Y118H |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Htr1d |
A |
T |
4: 136,170,554 (GRCm39) |
H261L |
probably benign |
Het |
| Hycc2 |
A |
T |
1: 58,587,832 (GRCm39) |
I127N |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,875,769 (GRCm39) |
F1244I |
probably damaging |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,534 (GRCm39) |
V21A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,799,791 (GRCm39) |
N508D |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,764,277 (GRCm39) |
E68D |
probably benign |
Het |
| Knstrn |
C |
T |
2: 118,654,222 (GRCm39) |
Q211* |
probably null |
Het |
| Krtap2-4 |
A |
T |
11: 99,505,246 (GRCm39) |
C122S |
unknown |
Het |
| Map3k1 |
T |
G |
13: 111,889,015 (GRCm39) |
H1314P |
possibly damaging |
Het |
| Mgat4c |
A |
T |
10: 102,214,084 (GRCm39) |
K22N |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,694,250 (GRCm39) |
F660Y |
probably damaging |
Het |
| Myb |
A |
T |
10: 21,021,130 (GRCm39) |
L433H |
probably damaging |
Het |
| Myo1c |
G |
A |
11: 75,561,072 (GRCm39) |
V793I |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,387,242 (GRCm39) |
S706T |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,892,068 (GRCm39) |
Y148C |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,583,330 (GRCm39) |
S1432T |
unknown |
Het |
| Odf2l |
C |
T |
3: 144,833,820 (GRCm39) |
S160L |
probably benign |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or56b34 |
T |
C |
7: 104,937,435 (GRCm39) |
L45P |
possibly damaging |
Het |
| Or6x1 |
T |
A |
9: 40,099,209 (GRCm39) |
F266Y |
probably benign |
Het |
| Or8d23 |
G |
T |
9: 38,842,190 (GRCm39) |
C241F |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,838,464 (GRCm39) |
W1424R |
|
Het |
| Pcx |
A |
G |
19: 4,651,968 (GRCm39) |
D72G |
probably damaging |
Het |
| Pebp4 |
A |
G |
14: 70,285,916 (GRCm39) |
D193G |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,900,344 (GRCm39) |
T326M |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,217,753 (GRCm39) |
M1265R |
|
Het |
| Pip4k2c |
A |
T |
10: 127,037,037 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pramel48 |
G |
T |
5: 95,630,939 (GRCm39) |
C272F |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Ptger3 |
A |
G |
3: 157,273,423 (GRCm39) |
T257A |
probably damaging |
Het |
| Relt |
T |
A |
7: 100,499,479 (GRCm39) |
S147C |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,209,271 (GRCm39) |
Y648C |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,313,961 (GRCm39) |
D1919V |
probably benign |
Het |
| Septin8 |
G |
A |
11: 53,422,865 (GRCm39) |
V25I |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,443,257 (GRCm39) |
I19V |
probably benign |
Het |
| Slc16a6 |
A |
G |
11: 109,345,932 (GRCm39) |
Y444H |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,058,685 (GRCm39) |
E7276G |
probably benign |
Het |
| Syt1 |
C |
A |
10: 108,478,193 (GRCm39) |
C77F |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,739,915 (GRCm39) |
K512M |
probably damaging |
Het |
| Tomm7 |
T |
C |
5: 24,049,047 (GRCm39) |
K9E |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,591 (GRCm39) |
S288P |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,556,865 (GRCm39) |
V112A |
probably benign |
Het |
| Ttbk1 |
C |
A |
17: 46,757,821 (GRCm39) |
G938W |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,264 (GRCm39) |
C104Y |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,192,344 (GRCm39) |
Y418* |
probably null |
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 |
|
|
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'- AGTTCTACTCAGCCTCTGTGG -3'
(R):5'- CGTTTTCCAGAAGCAGCTGC -3'
Sequencing Primer
(F):5'- GCTGAGGATGCCACCTTG -3'
(R):5'- TCTCTGTCCAGGGAGCCATTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation