Incidental Mutation 'R9592:Cdhr3'
| ID |
723054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33136007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 78
(S78P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095774
AA Change: S78P
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: S78P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
G |
T |
9: 4,309,312 (GRCm39) |
P42Q |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,709,314 (GRCm39) |
P170T |
probably benign |
Het |
| Ap4e1 |
A |
G |
2: 126,903,588 (GRCm39) |
D830G |
probably benign |
Het |
| Apc |
T |
A |
18: 34,443,823 (GRCm39) |
C605* |
probably null |
Het |
| Atp2b4 |
A |
G |
1: 133,659,568 (GRCm39) |
S465P |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ckap4 |
G |
A |
10: 84,364,175 (GRCm39) |
T296M |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,925,605 (GRCm39) |
R182H |
possibly damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,959 (GRCm39) |
H100Q |
probably damaging |
Het |
| Gm5464 |
T |
A |
14: 67,106,366 (GRCm39) |
M1K |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,579 (GRCm39) |
Q58* |
probably null |
Het |
| Kcnq2 |
T |
C |
2: 180,728,813 (GRCm39) |
Y572C |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,386,060 (GRCm39) |
T234A |
probably benign |
Het |
| Ksr2 |
G |
A |
5: 117,894,344 (GRCm39) |
G828S |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,028,228 (GRCm39) |
T264M |
probably benign |
Het |
| Myof |
A |
T |
19: 38,031,737 (GRCm39) |
I12N |
probably damaging |
Het |
| Nsd1 |
T |
G |
13: 55,424,355 (GRCm39) |
D1467E |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,940,104 (GRCm39) |
L167Q |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,908,852 (GRCm39) |
H569Q |
possibly damaging |
Het |
| Or51q1 |
T |
C |
7: 103,629,179 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,906 (GRCm39) |
I254T |
probably benign |
Het |
| Pcdha7 |
A |
T |
18: 37,109,045 (GRCm39) |
D690V |
probably benign |
Het |
| Pcdhb2 |
G |
A |
18: 37,429,266 (GRCm39) |
R56Q |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,652,899 (GRCm39) |
Y262* |
probably null |
Het |
| Pdzd2 |
G |
C |
15: 12,458,106 (GRCm39) |
N78K |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,938,859 (GRCm39) |
F345L |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,196,979 (GRCm39) |
Y22N |
probably damaging |
Het |
| Pnp2 |
C |
A |
14: 51,196,981 (GRCm39) |
Y22* |
probably null |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rmdn1 |
T |
C |
4: 19,599,660 (GRCm39) |
M206T |
possibly damaging |
Het |
| Rnf166 |
A |
T |
8: 123,197,048 (GRCm39) |
L68Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Scin |
C |
T |
12: 40,131,746 (GRCm39) |
V263I |
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,582,561 (GRCm39) |
R965L |
probably damaging |
Het |
| Senp2 |
G |
A |
16: 21,845,435 (GRCm39) |
R223Q |
possibly damaging |
Het |
| Siglecf |
C |
A |
7: 43,001,696 (GRCm39) |
P169T |
probably damaging |
Het |
| Smpdl3b |
G |
A |
4: 132,484,438 (GRCm39) |
|
probably benign |
Het |
| Syt2 |
G |
A |
1: 134,671,773 (GRCm39) |
V184I |
possibly damaging |
Het |
| Tecta |
G |
T |
9: 42,250,238 (GRCm39) |
N1851K |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,899,083 (GRCm39) |
S672R |
probably damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,170,815 (GRCm39) |
H485R |
probably damaging |
Het |
| Tns1 |
A |
T |
1: 74,029,553 (GRCm39) |
S307R |
probably damaging |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,118 (GRCm39) |
V498E |
probably damaging |
Het |
| Zfp820 |
G |
T |
17: 22,038,577 (GRCm39) |
S250R |
probably benign |
Het |
| Zfr2 |
A |
T |
10: 81,069,580 (GRCm39) |
N2I |
unknown |
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 |
|
|
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 |
|
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'- ACCCAGGAGTATCTTCACAAAGG -3'
(R):5'- TCCGTTTAAATCTGCAGGAGGG -3'
Sequencing Primer
(F):5'- GTGAAGGAAGTAGCCATCACCC -3'
(R):5'- AGGGGAAGCTCTACACCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation