Incidental Mutation 'R1698:Cdhr2'
ID |
192442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
039731-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54867394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 438
(M438L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: M438L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: M438L
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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,622,117 (GRCm39) |
E340A |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,264,507 (GRCm39) |
D2963G |
probably benign |
Het |
Actn3 |
T |
C |
19: 4,912,235 (GRCm39) |
D783G |
possibly damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,993,139 (GRCm39) |
E723G |
possibly damaging |
Het |
Agrn |
G |
T |
4: 156,251,015 (GRCm39) |
Q1931K |
probably benign |
Het |
Ankrd27 |
G |
A |
7: 35,313,946 (GRCm39) |
A426T |
probably benign |
Het |
Atg9b |
C |
A |
5: 24,593,186 (GRCm39) |
G406C |
probably damaging |
Het |
C1ra |
A |
T |
6: 124,499,725 (GRCm39) |
Q637L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,829,104 (GRCm39) |
I267V |
possibly damaging |
Het |
Chrna5 |
A |
G |
9: 54,911,926 (GRCm39) |
Y138C |
probably damaging |
Het |
Chst3 |
T |
A |
10: 60,021,525 (GRCm39) |
M441L |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,200,027 (GRCm39) |
P3434S |
probably benign |
Het |
Cog2 |
T |
A |
8: 125,252,422 (GRCm39) |
L42Q |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,250,272 (GRCm39) |
I210F |
probably benign |
Het |
Crnn |
C |
A |
3: 93,055,765 (GRCm39) |
Q184K |
probably damaging |
Het |
Csnka2ip |
A |
T |
16: 64,298,422 (GRCm39) |
Y647* |
probably null |
Het |
D5Ertd579e |
C |
T |
5: 36,761,874 (GRCm39) |
R1331H |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,516,587 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,593,426 (GRCm39) |
Q1231R |
possibly damaging |
Het |
Erbin |
T |
A |
13: 103,970,239 (GRCm39) |
I1126F |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,532,813 (GRCm39) |
D518G |
probably benign |
Het |
Gcc1 |
A |
G |
6: 28,421,110 (GRCm39) |
L69P |
possibly damaging |
Het |
Gkn1 |
T |
C |
6: 87,324,151 (GRCm39) |
Y119C |
probably damaging |
Het |
Gmpr |
T |
G |
13: 45,670,520 (GRCm39) |
W81G |
probably benign |
Het |
Gyg1 |
T |
A |
3: 20,192,215 (GRCm39) |
I236F |
probably benign |
Het |
Hcrtr2 |
T |
C |
9: 76,153,735 (GRCm39) |
Y219C |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,441,120 (GRCm39) |
Q5379* |
probably null |
Het |
Kank1 |
T |
C |
19: 25,388,681 (GRCm39) |
C785R |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,741,818 (GRCm39) |
C3036* |
probably null |
Het |
Mdga2 |
T |
C |
12: 66,736,109 (GRCm39) |
D373G |
probably damaging |
Het |
Mgat2 |
A |
T |
12: 69,232,493 (GRCm39) |
I356F |
probably benign |
Het |
Miga2 |
A |
G |
2: 30,268,009 (GRCm39) |
D346G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,651,084 (GRCm39) |
L1596Q |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,943,622 (GRCm39) |
R386Q |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,797,179 (GRCm39) |
S1349R |
probably benign |
Het |
Mtmr3 |
C |
T |
11: 4,442,825 (GRCm39) |
R403H |
possibly damaging |
Het |
Mycbpap |
G |
A |
11: 94,398,969 (GRCm39) |
Q460* |
probably null |
Het |
Myo9a |
T |
C |
9: 59,775,464 (GRCm39) |
V1025A |
probably benign |
Het |
Ncapd2 |
C |
T |
6: 125,145,553 (GRCm39) |
E1365K |
probably null |
Het |
Nkiras2 |
C |
A |
11: 100,515,989 (GRCm39) |
D105E |
probably damaging |
Het |
Nolc1 |
T |
G |
19: 46,069,870 (GRCm39) |
|
probably null |
Het |
Nos1 |
T |
C |
5: 118,005,297 (GRCm39) |
F6L |
probably benign |
Het |
Or10j3 |
A |
T |
1: 173,030,938 (GRCm39) |
N5I |
probably damaging |
Het |
Or12e1 |
G |
T |
2: 87,022,081 (GRCm39) |
V17L |
probably benign |
Het |
Or2t46 |
T |
C |
11: 58,472,077 (GRCm39) |
Y136H |
probably damaging |
Het |
Or2w1b |
C |
T |
13: 21,300,735 (GRCm39) |
T291I |
probably benign |
Het |
Or4f54 |
T |
A |
2: 111,122,905 (GRCm39) |
C97* |
probably null |
Het |
Or8b46 |
T |
A |
9: 38,450,552 (GRCm39) |
Y120* |
probably null |
Het |
Pfkm |
A |
G |
15: 98,026,199 (GRCm39) |
E598G |
possibly damaging |
Het |
Phf2 |
A |
T |
13: 48,961,106 (GRCm39) |
D861E |
unknown |
Het |
Polr2a |
A |
G |
11: 69,630,703 (GRCm39) |
|
probably null |
Het |
Popdc2 |
G |
A |
16: 38,189,853 (GRCm39) |
V167M |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,114 (GRCm39) |
S422P |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,450,428 (GRCm39) |
K490R |
possibly damaging |
Het |
Rbfox3 |
T |
A |
11: 118,386,047 (GRCm39) |
D286V |
probably damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,790 (GRCm39) |
W223R |
probably damaging |
Het |
Riok3 |
T |
C |
18: 12,261,986 (GRCm39) |
S7P |
probably benign |
Het |
Rnaseh2b |
A |
G |
14: 62,591,081 (GRCm39) |
E144G |
probably benign |
Het |
Rnf20 |
C |
T |
4: 49,651,498 (GRCm39) |
Q655* |
probably null |
Het |
Rpap2 |
T |
C |
5: 107,751,416 (GRCm39) |
Y8H |
probably damaging |
Het |
Slc5a10 |
T |
C |
11: 61,600,428 (GRCm39) |
Y181C |
probably benign |
Het |
Snd1 |
G |
T |
6: 28,888,252 (GRCm39) |
G896* |
probably null |
Het |
Spast |
C |
T |
17: 74,663,155 (GRCm39) |
Q158* |
probably null |
Het |
Tas2r104 |
G |
A |
6: 131,662,547 (GRCm39) |
S54F |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,604,951 (GRCm39) |
W611* |
probably null |
Het |
Thoc2l |
C |
T |
5: 104,668,376 (GRCm39) |
A966V |
probably benign |
Het |
Timp4 |
G |
A |
6: 115,227,364 (GRCm39) |
|
probably null |
Het |
Tmem45a |
G |
A |
16: 56,643,933 (GRCm39) |
S72L |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,458 (GRCm39) |
T124A |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,773,259 (GRCm39) |
D2381G |
probably damaging |
Het |
Uevld |
T |
C |
7: 46,605,372 (GRCm39) |
T41A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,186,506 (GRCm39) |
E527G |
probably damaging |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r63 |
A |
C |
7: 42,583,038 (GRCm39) |
I59S |
probably benign |
Het |
Vps72 |
G |
A |
3: 95,026,006 (GRCm39) |
S106N |
probably benign |
Het |
Zan |
A |
C |
5: 137,407,931 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,567,515 (GRCm39) |
K1190E |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,859,278 (GRCm39) |
V1103A |
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,282 (GRCm39) |
T277I |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,819,509 (GRCm39) |
S1149P |
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 |
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 |
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'- TGAGCAGCCAGCCCAACTTCATAG -3'
(R):5'- ATGGTCACCGTGGCAACAGAGTAG -3'
Sequencing Primer
(F):5'- TCTGTGGAAGGCCAGAGC -3'
(R):5'- CAACAGAGTAGTTGTTGCTGAC -3'
|
Posted On |
2014-05-14 |