Incidental Mutation 'R4752:Cdhr3'
| ID |
357692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| MMRRC Submission |
042032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33136102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 46
(V46A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095774
AA Change: V46A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CA
|
36 |
131 |
5.54e-2 |
SMART |
|
CA
|
156 |
234 |
3.73e-10 |
SMART |
|
CA
|
258 |
343 |
5.47e-17 |
SMART |
|
CA
|
369 |
459 |
9.87e-1 |
SMART |
|
CA
|
483 |
564 |
1.17e-16 |
SMART |
|
CA
|
590 |
683 |
1.1e0 |
SMART |
|
transmembrane domain
|
708 |
730 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1967 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,775,751 (GRCm39) |
Q1647K |
possibly damaging |
Het |
| Abcf3 |
A |
G |
16: 20,369,326 (GRCm39) |
E236G |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,218 (GRCm39) |
T483A |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,517,426 (GRCm39) |
P465Q |
probably null |
Het |
| Babam2 |
C |
T |
5: 31,859,391 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,058,200 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,031,122 (GRCm39) |
T64S |
possibly damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,254 (GRCm39) |
D708E |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,197,273 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,286,219 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,572,528 (GRCm39) |
F42I |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,112,491 (GRCm39) |
V1059E |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,496,364 (GRCm39) |
I3K |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Eif2b4 |
G |
A |
5: 31,348,575 (GRCm39) |
R213* |
probably null |
Het |
| Eif3b |
A |
G |
5: 140,426,856 (GRCm39) |
D704G |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,437,197 (GRCm39) |
E125G |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,434,153 (GRCm39) |
N412S |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,233,225 (GRCm39) |
M570V |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,729,349 (GRCm39) |
Q632* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,929,573 (GRCm39) |
W56R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,637 (GRCm39) |
I418M |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,699,295 (GRCm39) |
T154I |
probably damaging |
Het |
| Lyl1 |
A |
T |
8: 85,430,910 (GRCm39) |
T271S |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,336,895 (GRCm39) |
I333V |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,259 (GRCm39) |
T236A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,538 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Nfib |
T |
A |
4: 82,215,016 (GRCm39) |
Q529L |
probably damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nisch |
A |
T |
14: 30,914,545 (GRCm39) |
F42L |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,706,626 (GRCm39) |
Y547N |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,609,764 (GRCm39) |
V249I |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,515 (GRCm39) |
S150P |
possibly damaging |
Het |
| Or5l14 |
A |
G |
2: 87,792,693 (GRCm39) |
L181P |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,266 (GRCm39) |
Y136C |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,709,563 (GRCm39) |
N117I |
probably damaging |
Het |
| Prkn |
T |
C |
17: 12,223,010 (GRCm39) |
S387P |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,508 (GRCm39) |
K164N |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,700 (GRCm39) |
L218Q |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,836 (GRCm39) |
H114R |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,878,296 (GRCm39) |
M142K |
probably damaging |
Het |
| Shisa7 |
G |
A |
7: 4,837,249 (GRCm39) |
T89I |
possibly damaging |
Het |
| Slco1a1 |
C |
T |
6: 141,892,340 (GRCm39) |
A9T |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,158,172 (GRCm39) |
|
probably benign |
Het |
| Tdg-ps |
G |
A |
15: 82,400,572 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm4 |
A |
G |
9: 122,880,451 (GRCm39) |
D284G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,804,013 (GRCm39) |
I355F |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,995 (GRCm39) |
F241I |
possibly damaging |
Het |
| Tmem200c |
T |
A |
17: 69,149,235 (GRCm39) |
V606E |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,861,782 (GRCm39) |
K370R |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,336 (GRCm39) |
Q417* |
probably null |
Het |
| Vps45 |
T |
C |
3: 95,955,699 (GRCm39) |
Y97C |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,581,039 (GRCm39) |
S25P |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 29,777,306 (GRCm39) |
S292P |
probably damaging |
Het |
|
| Other mutations in Cdhr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Cdhr3
|
APN |
12 |
33,102,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01508:Cdhr3
|
APN |
12 |
33,103,427 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02396:Cdhr3
|
APN |
12 |
33,095,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02414:Cdhr3
|
APN |
12 |
33,092,503 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02450:Cdhr3
|
APN |
12 |
33,132,224 (GRCm39) |
missense |
probably benign |
|
|
IGL02453:Cdhr3
|
APN |
12 |
33,092,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02567:Cdhr3
|
APN |
12 |
33,088,900 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03342:Cdhr3
|
APN |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Cdhr3
|
UTSW |
12 |
33,142,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0140:Cdhr3
|
UTSW |
12 |
33,130,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Cdhr3
|
UTSW |
12 |
33,111,649 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0762:Cdhr3
|
UTSW |
12 |
33,110,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1421:Cdhr3
|
UTSW |
12 |
33,110,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Cdhr3
|
UTSW |
12 |
33,092,370 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1691:Cdhr3
|
UTSW |
12 |
33,132,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1822:Cdhr3
|
UTSW |
12 |
33,095,204 (GRCm39) |
missense |
probably null |
1.00 |
|
R1855:Cdhr3
|
UTSW |
12 |
33,110,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cdhr3
|
UTSW |
12 |
33,095,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2496:Cdhr3
|
UTSW |
12 |
33,099,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2507:Cdhr3
|
UTSW |
12 |
33,088,914 (GRCm39) |
missense |
probably benign |
|
|
R3155:Cdhr3
|
UTSW |
12 |
33,099,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3906:Cdhr3
|
UTSW |
12 |
33,103,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4005:Cdhr3
|
UTSW |
12 |
33,130,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4277:Cdhr3
|
UTSW |
12 |
33,110,232 (GRCm39) |
missense |
probably null |
0.16 |
|
R4573:Cdhr3
|
UTSW |
12 |
33,118,152 (GRCm39) |
splice site |
probably null |
|
|
R5364:Cdhr3
|
UTSW |
12 |
33,101,007 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5562:Cdhr3
|
UTSW |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:Cdhr3
|
UTSW |
12 |
33,098,985 (GRCm39) |
nonsense |
probably null |
|
|
R5768:Cdhr3
|
UTSW |
12 |
33,096,685 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6255:Cdhr3
|
UTSW |
12 |
33,103,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Cdhr3
|
UTSW |
12 |
33,085,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Cdhr3
|
UTSW |
12 |
33,092,379 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7155:Cdhr3
|
UTSW |
12 |
33,111,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Cdhr3
|
UTSW |
12 |
33,110,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Cdhr3
|
UTSW |
12 |
33,103,519 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7788:Cdhr3
|
UTSW |
12 |
33,110,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Cdhr3
|
UTSW |
12 |
33,098,931 (GRCm39) |
splice site |
probably null |
|
|
R9226:Cdhr3
|
UTSW |
12 |
33,132,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9592:Cdhr3
|
UTSW |
12 |
33,136,007 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF023:Cdhr3
|
UTSW |
12 |
33,110,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Cdhr3
|
UTSW |
12 |
33,117,235 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0028:Cdhr3
|
UTSW |
12 |
33,092,455 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cdhr3
|
UTSW |
12 |
33,130,323 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Cdhr3
|
UTSW |
12 |
33,110,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGCGTCCTGTGTATGG -3'
(R):5'- GGAATGACCAGTCTCCTTTGTTG -3'
Sequencing Primer
(F):5'- CCTGTGTATGGCTGGATCAAGATTC -3'
(R):5'- TGTTGCCATGAAATGAAGTCACCG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation