Incidental Mutation 'R1421:Cdhr3'
| ID |
159825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| MMRRC Submission |
039477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33110291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 331
(I331K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095774
AA Change: I331K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: I331K
| 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: ENSMUST00000175190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219453
|
| Meta Mutation Damage Score |
0.4461 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcf1 |
G |
A |
17: 36,271,801 (GRCm39) |
A375V |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,784 (GRCm39) |
H631Q |
possibly damaging |
Het |
| Adcy10 |
T |
C |
1: 165,391,516 (GRCm39) |
S1258P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,643,389 (GRCm39) |
I717T |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,995 (GRCm39) |
F4760I |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,266 (GRCm39) |
K122R |
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,563,631 (GRCm39) |
C201R |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,714,080 (GRCm39) |
|
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,998,006 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,942,511 (GRCm39) |
V662A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,803,910 (GRCm39) |
M1667K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,580,032 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,468,513 (GRCm39) |
Y251F |
probably damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,011 (GRCm39) |
M133K |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,624 (GRCm39) |
Y322H |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,966,982 (GRCm39) |
H67L |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,037,217 (GRCm39) |
K253* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,365,215 (GRCm39) |
T598A |
probably benign |
Het |
| Gramd1a |
T |
A |
7: 30,842,291 (GRCm39) |
Q90L |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,309,960 (GRCm39) |
Y352C |
probably damaging |
Het |
| Ifi203-ps |
T |
C |
1: 173,625,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ifitm2 |
T |
C |
7: 140,534,972 (GRCm39) |
I121V |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,960 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
G |
7: 15,856,949 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,748,092 (GRCm39) |
D345N |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,079 (GRCm39) |
H6R |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,110,475 (GRCm39) |
I116V |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,681 (GRCm39) |
D366G |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,512,748 (GRCm39) |
E104G |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Parp1 |
T |
C |
1: 180,427,653 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,310,470 (GRCm39) |
G1919D |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,126,765 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,090,990 (GRCm39) |
S454F |
possibly damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,851,183 (GRCm39) |
S360P |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,336,085 (GRCm39) |
I352N |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,952,759 (GRCm39) |
G197D |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,221 (GRCm39) |
V209A |
probably benign |
Het |
| Taf7l2 |
A |
G |
10: 115,949,343 (GRCm39) |
V61A |
probably damaging |
Het |
| Tex36 |
A |
T |
7: 133,197,078 (GRCm39) |
|
probably null |
Het |
| Tnnt3 |
A |
G |
7: 142,065,103 (GRCm39) |
E108G |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,440 (GRCm39) |
F87I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,716 (GRCm39) |
I479T |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,349,636 (GRCm39) |
N22D |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp735 |
C |
A |
11: 73,601,523 (GRCm39) |
L156I |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,861 (GRCm39) |
Y156N |
possibly 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 |
|
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 |
|
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'- TGTAGAGAGTCAGTCCCCAATGCC -3'
(R):5'- TCAGCTACCCACCAGTTCTGTCAG -3'
Sequencing Primer
(F):5'- TGCCATGCCTTATCAGAGAATC -3'
(R):5'- GGTGCAAGCTGATCATCATTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation