Incidental Mutation 'R3124:Pthlh'
| ID |
264194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pthlh
|
| Ensembl Gene |
ENSMUSG00000048776 |
| Gene Name |
parathyroid hormone-like peptide |
| Synonyms |
parathyroid hormone-related protein, Pthrp, parathyroid hormone-like hormone, PTH-related peptide, parathyroid hormone-related peptide, PTH-like |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
147153607-147165511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 147164789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 27
(V27E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052296]
[ENSMUST00000204197]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052296
AA Change: V27E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: V27E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PTH
|
35 |
70 |
2.26e-18 |
SMART |
|
low complexity region
|
115 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204197
AA Change: V27E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: V27E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PTH
|
35 |
70 |
2.26e-18 |
SMART |
|
low complexity region
|
115 |
144 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3418 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the parathyroid family of hormones that possesses distinct paracrine and intracrine signaling roles such as regulation of circulating calcium, transplacental calcium transport, osteoclast inhibition, renal bicarbonate excretion and regulation of apoptosis. The encoded protein undergoes proteolytic processing to generate multiple active peptides with distinct signaling functions. The homozygous deletion of this gene leads to death shortly after birth with a chondrodystrophic phenotype characterized by premature chondrocyte differentiation and accelerated bone formation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Pthlh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01148:Pthlh
|
APN |
6 |
147,154,073 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02450:Pthlh
|
APN |
6 |
147,158,666 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0847:Pthlh
|
UTSW |
6 |
147,164,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2171:Pthlh
|
UTSW |
6 |
147,158,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Pthlh
|
UTSW |
6 |
147,158,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3123:Pthlh
|
UTSW |
6 |
147,164,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3125:Pthlh
|
UTSW |
6 |
147,164,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4660:Pthlh
|
UTSW |
6 |
147,158,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Pthlh
|
UTSW |
6 |
147,158,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Pthlh
|
UTSW |
6 |
147,158,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Pthlh
|
UTSW |
6 |
147,158,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Pthlh
|
UTSW |
6 |
147,158,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7548:Pthlh
|
UTSW |
6 |
147,158,653 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8144:Pthlh
|
UTSW |
6 |
147,158,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pthlh
|
UTSW |
6 |
147,164,840 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCATTTTGGGGTCTCAC -3'
(R):5'- AAGCCACGGGGTTCCAAAAG -3'
Sequencing Primer
(F):5'- GGGTCTCACCAGCTCTCTAGATG -3'
(R):5'- TTCCAAAAGAGGGAGCGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation