Incidental Mutation 'R5768:Cdhr3'
| ID |
446397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| MMRRC Submission |
043368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5768 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33096685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 591
(T591K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095774
AA Change: T591K
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: T591K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219453
|
| Meta Mutation Damage Score |
0.1032 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
| Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
| BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
| Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
| Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,492,242 (GRCm39) |
V195M |
probably damaging |
Het |
| Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,055,826 (GRCm39) |
P393T |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
| Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
| Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
| Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
| Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
| Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
| Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
| Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
| Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
| Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,509 (GRCm39) |
R99Q |
probably benign |
Het |
| Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,295,757 (GRCm39) |
D368E |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,208,116 (GRCm39) |
T596A |
probably benign |
Het |
| Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
| Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
| Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
probably benign |
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 |
|
|
R4752:Cdhr3
|
UTSW |
12 |
33,136,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- AGGGAAGCTTGGATTCTTCATG -3'
(R):5'- TGCATATACGCAGCAAAGAAGC -3'
Sequencing Primer
(F):5'- TTCATGTAAAATATGCCCTCCCCAG -3'
(R):5'- GCCAAGCCTGAAAACTTGAGTTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation