Incidental Mutation 'R8050:Cdhr2'
ID |
619019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
067487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8050 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 54882035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1162
(V1162M)
|
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: V1162M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: V1162M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,677 (GRCm39) |
V194E |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,561,296 (GRCm39) |
N5406S |
probably damaging |
Het |
Arhgef38 |
T |
A |
3: 132,843,323 (GRCm39) |
R416* |
probably null |
Het |
Asb7 |
T |
A |
7: 66,328,932 (GRCm39) |
Q36L |
probably benign |
Het |
Bbof1 |
G |
A |
12: 84,457,991 (GRCm39) |
M85I |
probably benign |
Het |
Bin1 |
T |
G |
18: 32,539,198 (GRCm39) |
F44V |
probably damaging |
Het |
Bnc2 |
C |
A |
4: 84,210,573 (GRCm39) |
V599L |
probably benign |
Het |
Bnip3l |
A |
G |
14: 67,226,651 (GRCm39) |
S181P |
probably damaging |
Het |
Btnl9 |
A |
G |
11: 49,066,442 (GRCm39) |
L374P |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,571,633 (GRCm39) |
I424T |
probably benign |
Het |
Dgkb |
G |
A |
12: 38,174,216 (GRCm39) |
E181K |
probably benign |
Het |
Dnase1 |
A |
T |
16: 3,855,861 (GRCm39) |
D64V |
probably damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,719,767 (GRCm39) |
I433T |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,592 (GRCm39) |
R149H |
probably benign |
Het |
Eif1ad8 |
G |
A |
12: 87,563,911 (GRCm39) |
R82Q |
possibly damaging |
Het |
Enpep |
A |
T |
3: 129,099,165 (GRCm39) |
V437E |
probably damaging |
Het |
Esrp1 |
A |
T |
4: 11,338,767 (GRCm39) |
V679D |
probably damaging |
Het |
Fa2h |
T |
A |
8: 112,074,817 (GRCm39) |
|
probably null |
Het |
Fabp1 |
G |
A |
6: 71,176,956 (GRCm39) |
E16K |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,614,810 (GRCm39) |
S624T |
probably benign |
Het |
Gemin5 |
G |
A |
11: 58,019,686 (GRCm39) |
R1128W |
probably benign |
Het |
H2bc8 |
T |
C |
13: 23,755,841 (GRCm39) |
S79P |
probably damaging |
Het |
Hps3 |
T |
C |
3: 20,057,492 (GRCm39) |
H896R |
probably benign |
Het |
Hsf1 |
T |
A |
15: 76,382,481 (GRCm39) |
I284K |
probably benign |
Het |
Igkv3-2 |
T |
A |
6: 70,675,988 (GRCm39) |
I99N |
probably damaging |
Het |
Iqub |
T |
A |
6: 24,503,784 (GRCm39) |
I163F |
possibly damaging |
Het |
Jak2 |
T |
C |
19: 29,275,732 (GRCm39) |
I724T |
probably damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,330,408 (GRCm39) |
T261S |
probably benign |
Het |
Kctd20 |
G |
T |
17: 29,171,732 (GRCm39) |
|
probably null |
Het |
Kif28 |
C |
T |
1: 179,537,014 (GRCm39) |
V490M |
probably benign |
Het |
Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,257,829 (GRCm39) |
Y537C |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,254,784 (GRCm39) |
I331K |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,089,228 (GRCm39) |
S1119R |
probably damaging |
Het |
Napepld |
C |
A |
5: 21,870,319 (GRCm39) |
E366D |
probably benign |
Het |
Nbea |
A |
G |
3: 55,895,402 (GRCm39) |
V1540A |
probably damaging |
Het |
Neb |
T |
A |
2: 52,111,738 (GRCm39) |
I130L |
probably benign |
Het |
Opcml |
T |
C |
9: 28,724,640 (GRCm39) |
V146A |
probably damaging |
Het |
Or2g7 |
T |
C |
17: 38,378,370 (GRCm39) |
S103P |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,764 (GRCm39) |
L63H |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,225,941 (GRCm39) |
D92N |
probably damaging |
Het |
Pappa2 |
A |
C |
1: 158,675,970 (GRCm39) |
C925W |
probably damaging |
Het |
Parp12 |
T |
A |
6: 39,066,038 (GRCm39) |
N562Y |
probably damaging |
Het |
Patj |
C |
A |
4: 98,427,201 (GRCm39) |
H1198Q |
probably benign |
Het |
Pcyox1 |
T |
A |
6: 86,366,128 (GRCm39) |
K362M |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,501,765 (GRCm39) |
Y350C |
probably benign |
Het |
Pkd1 |
A |
T |
17: 24,784,617 (GRCm39) |
T388S |
probably benign |
Het |
Prl3d1 |
T |
A |
13: 27,284,011 (GRCm39) |
Y193* |
probably null |
Het |
Psme1 |
A |
T |
14: 55,817,056 (GRCm39) |
D15V |
possibly damaging |
Het |
Qrsl1 |
G |
A |
10: 43,750,631 (GRCm39) |
R476C |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,315,441 (GRCm39) |
N2054D |
probably damaging |
Het |
Serpinb1c |
T |
A |
13: 33,066,052 (GRCm39) |
K298* |
probably null |
Het |
Slc22a27 |
A |
T |
19: 7,857,532 (GRCm39) |
M355K |
probably benign |
Het |
Spp1 |
T |
A |
5: 104,588,280 (GRCm39) |
H227Q |
probably benign |
Het |
Stam2 |
T |
A |
2: 52,609,785 (GRCm39) |
N75I |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,659,230 (GRCm39) |
T579A |
probably benign |
Het |
Tbx3 |
A |
G |
5: 119,821,132 (GRCm39) |
D734G |
probably benign |
Het |
Tmem233 |
G |
T |
5: 116,221,141 (GRCm39) |
S35* |
probably null |
Het |
Trim43c |
A |
T |
9: 88,722,390 (GRCm39) |
E12V |
probably damaging |
Het |
Trio |
A |
G |
15: 27,891,540 (GRCm39) |
S463P |
unknown |
Het |
Uggt2 |
A |
T |
14: 119,263,834 (GRCm39) |
D1065E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,817,150 (GRCm39) |
N114S |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,396,787 (GRCm39) |
E2377G |
|
Het |
Virma |
T |
A |
4: 11,528,643 (GRCm39) |
H1243Q |
probably benign |
Het |
Vmn2r3 |
A |
T |
3: 64,178,714 (GRCm39) |
V517D |
probably damaging |
Het |
Zfp931 |
T |
C |
2: 177,709,889 (GRCm39) |
K166E |
probably damaging |
Het |
Zp3 |
T |
A |
5: 136,011,604 (GRCm39) |
Y141N |
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 |
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 |
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'- CAGGATGATCCGGAAAGACC -3'
(R):5'- AAGACCATTCTGCCAGTGAG -3'
Sequencing Primer
(F):5'- ATGCACTGAGGCAGCTG -3'
(R):5'- ATTCTGCCAGTGAGGGGGTG -3'
|
Posted On |
2020-01-23 |