Incidental Mutation 'R4949:Cdhr5'
| ID |
383667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr5
|
| Ensembl Gene |
ENSMUSG00000025497 |
| Gene Name |
cadherin-related family member 5 |
| Synonyms |
Mupcdh, Mucdhl, 1810074H01Rik |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140848996-140856699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140852557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 353
(N353I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080654]
[ENSMUST00000167263]
[ENSMUST00000210124]
[ENSMUST00000210773]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080654
AA Change: N353I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: N353I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
53 |
125 |
3.78e-2 |
SMART |
|
CA
|
152 |
238 |
2.34e-1 |
SMART |
|
Blast:CA
|
277 |
355 |
3e-35 |
BLAST |
|
Blast:CA
|
388 |
458 |
3e-24 |
BLAST |
|
transmembrane domain
|
478 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167263
AA Change: N353I
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: N353I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
53 |
125 |
3.78e-2 |
SMART |
|
CA
|
152 |
238 |
2.34e-1 |
SMART |
|
Blast:CA
|
277 |
355 |
3e-35 |
BLAST |
|
Blast:CA
|
388 |
458 |
1e-24 |
BLAST |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
576 |
N/A |
INTRINSIC |
|
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210124
AA Change: N103I
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210386
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210773
AA Change: N28I
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Cdhr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02097:Cdhr5
|
APN |
7 |
140,849,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02662:Cdhr5
|
APN |
7 |
140,854,416 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0002:Cdhr5
|
UTSW |
7 |
140,849,933 (GRCm39) |
splice site |
probably null |
|
|
R0098:Cdhr5
|
UTSW |
7 |
140,849,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Cdhr5
|
UTSW |
7 |
140,856,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Cdhr5
|
UTSW |
7 |
140,852,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Cdhr5
|
UTSW |
7 |
140,852,812 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0918:Cdhr5
|
UTSW |
7 |
140,852,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Cdhr5
|
UTSW |
7 |
140,851,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Cdhr5
|
UTSW |
7 |
140,852,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Cdhr5
|
UTSW |
7 |
140,852,516 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3912:Cdhr5
|
UTSW |
7 |
140,853,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Cdhr5
|
UTSW |
7 |
140,852,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4491:Cdhr5
|
UTSW |
7 |
140,853,970 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4838:Cdhr5
|
UTSW |
7 |
140,853,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Cdhr5
|
UTSW |
7 |
140,854,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Cdhr5
|
UTSW |
7 |
140,856,437 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5642:Cdhr5
|
UTSW |
7 |
140,849,110 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Cdhr5
|
UTSW |
7 |
140,852,444 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7172:Cdhr5
|
UTSW |
7 |
140,851,841 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7212:Cdhr5
|
UTSW |
7 |
140,852,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7693:Cdhr5
|
UTSW |
7 |
140,851,691 (GRCm39) |
missense |
probably benign |
|
|
R8397:Cdhr5
|
UTSW |
7 |
140,851,801 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8682:Cdhr5
|
UTSW |
7 |
140,855,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8804:Cdhr5
|
UTSW |
7 |
140,849,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9216:Cdhr5
|
UTSW |
7 |
140,851,615 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9304:Cdhr5
|
UTSW |
7 |
140,851,474 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF016:Cdhr5
|
UTSW |
7 |
140,852,097 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGTTCCTAGGTGAACAGG -3'
(R):5'- AAAGTATCCCGAGCCCCATG -3'
Sequencing Primer
(F):5'- GGAAGGTCTTGTCCTTCA -3'
(R):5'- ATGAAGTTCACCCTTCTGATCAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation