Incidental Mutation 'R1698:Cdhr2'
| ID |
192442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
LOC268663, Pcdh24 |
| MMRRC Submission |
039731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54701461-54736662 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54719581 bp (GRCm38)
|
| 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: 121,645,158 (GRCm38) |
E340A |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,314,507 (GRCm38) |
D2963G |
probably benign |
Het |
| Actn3 |
T |
C |
19: 4,862,207 (GRCm38) |
D783G |
possibly damaging |
Het |
| Adamtsl2 |
A |
G |
2: 27,103,127 (GRCm38) |
E723G |
possibly damaging |
Het |
| Agrn |
G |
T |
4: 156,166,558 (GRCm38) |
Q1931K |
probably benign |
Het |
| Ankrd27 |
G |
A |
7: 35,614,521 (GRCm38) |
A426T |
probably benign |
Het |
| Atg9b |
C |
A |
5: 24,388,188 (GRCm38) |
G406C |
probably damaging |
Het |
| BC005561 |
C |
T |
5: 104,520,510 (GRCm38) |
A966V |
probably benign |
Het |
| C1ra |
A |
T |
6: 124,522,766 (GRCm38) |
Q637L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,953,358 (GRCm38) |
I267V |
possibly damaging |
Het |
| Chrna5 |
A |
G |
9: 55,004,642 (GRCm38) |
Y138C |
probably damaging |
Het |
| Chst3 |
T |
A |
10: 60,185,703 (GRCm38) |
M441L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,063,519 (GRCm38) |
P3434S |
probably benign |
Het |
| Cog2 |
T |
A |
8: 124,525,683 (GRCm38) |
L42Q |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,250,126 (GRCm38) |
I210F |
probably benign |
Het |
| Crnn |
C |
A |
3: 93,148,458 (GRCm38) |
Q184K |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,478,059 (GRCm38) |
Y647* |
probably null |
Het |
| D5Ertd579e |
C |
T |
5: 36,604,530 (GRCm38) |
R1331H |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,917,380 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,626,992 (GRCm38) |
Q1231R |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,833,731 (GRCm38) |
I1126F |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,702,469 (GRCm38) |
D518G |
probably benign |
Het |
| Gcc1 |
A |
G |
6: 28,421,111 (GRCm38) |
L69P |
possibly damaging |
Het |
| Gkn1 |
T |
C |
6: 87,347,169 (GRCm38) |
Y119C |
probably damaging |
Het |
| Gmpr |
T |
G |
13: 45,517,044 (GRCm38) |
W81G |
probably benign |
Het |
| Gyg |
T |
A |
3: 20,138,051 (GRCm38) |
I236F |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,246,453 (GRCm38) |
Y219C |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,565,369 (GRCm38) |
Q5379* |
probably null |
Het |
| Kank1 |
T |
C |
19: 25,411,317 (GRCm38) |
C785R |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,851,806 (GRCm38) |
C3036* |
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,689,335 (GRCm38) |
D373G |
probably damaging |
Het |
| Mgat2 |
A |
T |
12: 69,185,719 (GRCm38) |
I356F |
probably benign |
Het |
| Miga2 |
A |
G |
2: 30,377,997 (GRCm38) |
D346G |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,760,258 (GRCm38) |
L1596Q |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,914,140 (GRCm38) |
R386Q |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,919,980 (GRCm38) |
S1349R |
probably benign |
Het |
| Mtmr3 |
C |
T |
11: 4,492,825 (GRCm38) |
R403H |
possibly damaging |
Het |
| Mycbpap |
G |
A |
11: 94,508,143 (GRCm38) |
Q460* |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,868,181 (GRCm38) |
V1025A |
probably benign |
Het |
| Ncapd2 |
C |
T |
6: 125,168,590 (GRCm38) |
E1365K |
probably null |
Het |
| Nkiras2 |
C |
A |
11: 100,625,163 (GRCm38) |
D105E |
probably damaging |
Het |
| Nolc1 |
T |
G |
19: 46,081,431 (GRCm38) |
|
probably null |
Het |
| Nos1 |
T |
C |
5: 117,867,232 (GRCm38) |
F6L |
probably benign |
Het |
| Olfr1112 |
G |
T |
2: 87,191,737 (GRCm38) |
V17L |
probably benign |
Het |
| Olfr1278 |
T |
A |
2: 111,292,560 (GRCm38) |
C97* |
probably null |
Het |
| Olfr1369-ps1 |
C |
T |
13: 21,116,565 (GRCm38) |
T291I |
probably benign |
Het |
| Olfr218 |
A |
T |
1: 173,203,371 (GRCm38) |
N5I |
probably damaging |
Het |
| Olfr325 |
T |
C |
11: 58,581,251 (GRCm38) |
Y136H |
probably damaging |
Het |
| Olfr910 |
T |
A |
9: 38,539,256 (GRCm38) |
Y120* |
probably null |
Het |
| Pfkm |
A |
G |
15: 98,128,318 (GRCm38) |
E598G |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,807,630 (GRCm38) |
D861E |
unknown |
Het |
| Polr2a |
A |
G |
11: 69,739,877 (GRCm38) |
|
probably null |
Het |
| Popdc2 |
G |
A |
16: 38,369,491 (GRCm38) |
V167M |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,885,798 (GRCm38) |
S422P |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,568,375 (GRCm38) |
K490R |
possibly damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,495,221 (GRCm38) |
D286V |
probably damaging |
Het |
| Rdh13 |
A |
G |
7: 4,427,791 (GRCm38) |
W223R |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,128,929 (GRCm38) |
S7P |
probably benign |
Het |
| Rnaseh2b |
A |
G |
14: 62,353,632 (GRCm38) |
E144G |
probably benign |
Het |
| Rnf20 |
C |
T |
4: 49,651,498 (GRCm38) |
Q655* |
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,603,550 (GRCm38) |
Y8H |
probably damaging |
Het |
| Slc5a10 |
T |
C |
11: 61,709,602 (GRCm38) |
Y181C |
probably benign |
Het |
| Snd1 |
G |
T |
6: 28,888,253 (GRCm38) |
G896* |
probably null |
Het |
| Spast |
C |
T |
17: 74,356,160 (GRCm38) |
Q158* |
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,685,584 (GRCm38) |
S54F |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,628,017 (GRCm38) |
W611* |
probably null |
Het |
| Timp4 |
G |
A |
6: 115,250,403 (GRCm38) |
|
probably null |
Het |
| Tmem45a |
G |
A |
16: 56,823,570 (GRCm38) |
S72L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,788,703 (GRCm38) |
T124A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,942,915 (GRCm38) |
D2381G |
probably damaging |
Het |
| Uevld |
T |
C |
7: 46,955,624 (GRCm38) |
T41A |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Unc5d |
T |
C |
8: 28,696,478 (GRCm38) |
E527G |
probably damaging |
Het |
| Vmn2r125 |
C |
T |
4: 156,351,038 (GRCm38) |
T237I |
probably benign |
Het |
| Vmn2r63 |
A |
C |
7: 42,933,614 (GRCm38) |
I59S |
probably benign |
Het |
| Vps72 |
G |
A |
3: 95,118,695 (GRCm38) |
S106N |
probably benign |
Het |
| Zan |
A |
C |
5: 137,409,669 (GRCm38) |
|
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,685,462 (GRCm38) |
K1190E |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 129,017,358 (GRCm38) |
V1103A |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,562,157 (GRCm38) |
T277I |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,769,509 (GRCm38) |
S1149P |
probably damaging |
Het |
|
| Other mutations in Cdhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Cdhr2
|
APN |
13 |
54,718,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00596:Cdhr2
|
APN |
13 |
54,720,997 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00840:Cdhr2
|
APN |
13 |
54,720,152 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00956:Cdhr2
|
APN |
13 |
54,718,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01101:Cdhr2
|
APN |
13 |
54,718,135 (GRCm38) |
splice site |
probably benign |
|
|
IGL01150:Cdhr2
|
APN |
13 |
54,731,118 (GRCm38) |
missense |
probably benign |
|
|
IGL01412:Cdhr2
|
APN |
13 |
54,725,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01515:Cdhr2
|
APN |
13 |
54,718,238 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02005:Cdhr2
|
APN |
13 |
54,719,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02187:Cdhr2
|
APN |
13 |
54,733,710 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02312:Cdhr2
|
APN |
13 |
54,717,888 (GRCm38) |
missense |
probably null |
0.97 |
|
IGL02877:Cdhr2
|
APN |
13 |
54,734,737 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL03072:Cdhr2
|
APN |
13 |
54,726,661 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03263:Cdhr2
|
APN |
13 |
54,718,113 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
FR4449:Cdhr2
|
UTSW |
13 |
54,725,924 (GRCm38) |
small insertion |
probably benign |
|
|
PIT4494001:Cdhr2
|
UTSW |
13 |
54,718,442 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
PIT4498001:Cdhr2
|
UTSW |
13 |
54,718,239 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0041:Cdhr2
|
UTSW |
13 |
54,726,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0149:Cdhr2
|
UTSW |
13 |
54,734,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0329:Cdhr2
|
UTSW |
13 |
54,734,801 (GRCm38) |
unclassified |
probably benign |
|
|
R0361:Cdhr2
|
UTSW |
13 |
54,734,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0365:Cdhr2
|
UTSW |
13 |
54,718,292 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0598:Cdhr2
|
UTSW |
13 |
54,726,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0774:Cdhr2
|
UTSW |
13 |
54,717,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1330:Cdhr2
|
UTSW |
13 |
54,734,268 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1458:Cdhr2
|
UTSW |
13 |
54,717,872 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1659:Cdhr2
|
UTSW |
13 |
54,719,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2061:Cdhr2
|
UTSW |
13 |
54,720,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2098:Cdhr2
|
UTSW |
13 |
54,715,644 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2135:Cdhr2
|
UTSW |
13 |
54,720,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2365:Cdhr2
|
UTSW |
13 |
54,718,088 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3693:Cdhr2
|
UTSW |
13 |
54,726,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3968:Cdhr2
|
UTSW |
13 |
54,726,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3970:Cdhr2
|
UTSW |
13 |
54,726,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4001:Cdhr2
|
UTSW |
13 |
54,718,266 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4003:Cdhr2
|
UTSW |
13 |
54,718,266 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4030:Cdhr2
|
UTSW |
13 |
54,717,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4088:Cdhr2
|
UTSW |
13 |
54,717,888 (GRCm38) |
missense |
probably null |
0.97 |
|
R4256:Cdhr2
|
UTSW |
13 |
54,714,005 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4322:Cdhr2
|
UTSW |
13 |
54,733,721 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4396:Cdhr2
|
UTSW |
13 |
54,715,665 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4591:Cdhr2
|
UTSW |
13 |
54,715,684 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4726:Cdhr2
|
UTSW |
13 |
54,718,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5370:Cdhr2
|
UTSW |
13 |
54,720,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5396:Cdhr2
|
UTSW |
13 |
54,736,456 (GRCm38) |
missense |
probably benign |
|
|
R5447:Cdhr2
|
UTSW |
13 |
54,733,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5654:Cdhr2
|
UTSW |
13 |
54,736,536 (GRCm38) |
missense |
probably benign |
|
|
R5727:Cdhr2
|
UTSW |
13 |
54,724,308 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5771:Cdhr2
|
UTSW |
13 |
54,726,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5924:Cdhr2
|
UTSW |
13 |
54,726,683 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5928:Cdhr2
|
UTSW |
13 |
54,734,019 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6246:Cdhr2
|
UTSW |
13 |
54,719,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6351:Cdhr2
|
UTSW |
13 |
54,726,776 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6358:Cdhr2
|
UTSW |
13 |
54,736,546 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6433:Cdhr2
|
UTSW |
13 |
54,718,512 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7044:Cdhr2
|
UTSW |
13 |
54,733,321 (GRCm38) |
nonsense |
probably null |
|
|
R7341:Cdhr2
|
UTSW |
13 |
54,719,492 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7462:Cdhr2
|
UTSW |
13 |
54,726,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7488:Cdhr2
|
UTSW |
13 |
54,717,915 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7763:Cdhr2
|
UTSW |
13 |
54,717,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7771:Cdhr2
|
UTSW |
13 |
54,718,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8050:Cdhr2
|
UTSW |
13 |
54,734,222 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8069:Cdhr2
|
UTSW |
13 |
54,731,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8070:Cdhr2
|
UTSW |
13 |
54,719,793 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8129:Cdhr2
|
UTSW |
13 |
54,716,395 (GRCm38) |
splice site |
probably null |
|
|
R8829:Cdhr2
|
UTSW |
13 |
54,718,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8915:Cdhr2
|
UTSW |
13 |
54,726,371 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9050:Cdhr2
|
UTSW |
13 |
54,735,320 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9113:Cdhr2
|
UTSW |
13 |
54,734,887 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9205:Cdhr2
|
UTSW |
13 |
54,713,988 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9281:Cdhr2
|
UTSW |
13 |
54,733,890 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9290:Cdhr2
|
UTSW |
13 |
54,734,196 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9621:Cdhr2
|
UTSW |
13 |
54,718,537 (GRCm38) |
missense |
|
|
|
R9647:Cdhr2
|
UTSW |
13 |
54,719,581 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9697:Cdhr2
|
UTSW |
13 |
54,719,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9736:Cdhr2
|
UTSW |
13 |
54,724,228 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,726,408 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,718,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,715,671 (GRCm38) |
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 |
Incidental Mutation