Incidental Mutation 'R9074:Ghr'
| ID |
689692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ghr
|
| Ensembl Gene |
ENSMUSG00000055737 |
| Gene Name |
growth hormone receptor |
| Synonyms |
GHR/BP, GHBP |
| MMRRC Submission |
068895-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3370470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 132
(P132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069451]
[ENSMUST00000110697]
[ENSMUST00000110698]
[ENSMUST00000161561]
[ENSMUST00000161770]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069451
AA Change: P132S
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: P132S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
636 |
2.1e-110 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110697
AA Change: P132S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: P132S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
5.4e-13 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110698
AA Change: P132S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: P132S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
5.4e-13 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161561
AA Change: P132S
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: P132S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
628 |
1.8e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161770
AA Change: P132S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737
AA Change: P132S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
2.4e-13 |
PFAM |
|
Blast:FN3
|
159 |
183 |
9e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,972,257 (GRCm39) |
|
silent |
Het |
| Ackr2 |
T |
A |
9: 121,737,729 (GRCm39) |
C35S |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,573,940 (GRCm39) |
K1054N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,601,879 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,127,959 (GRCm39) |
I3765K |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,824,610 (GRCm39) |
F1219I |
|
Het |
| Btc |
A |
T |
5: 91,508,603 (GRCm39) |
|
probably null |
Het |
| Cd163 |
C |
T |
6: 124,285,947 (GRCm39) |
R166* |
probably null |
Het |
| Cfap52 |
G |
A |
11: 67,822,656 (GRCm39) |
S405L |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,531,414 (GRCm39) |
L210P |
possibly damaging |
Het |
| Creb3l3 |
T |
A |
10: 80,924,452 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,934,458 (GRCm39) |
I144F |
probably benign |
Het |
| Dedd |
G |
T |
1: 171,167,888 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,491,124 (GRCm39) |
R537C |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,135,267 (GRCm39) |
R633S |
probably benign |
Het |
| Fmn2 |
C |
A |
1: 174,436,198 (GRCm39) |
T723N |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Ggcx |
T |
G |
6: 72,402,924 (GRCm39) |
F294C |
probably damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,299 (GRCm39) |
H517L |
probably damaging |
Het |
| Gm5862 |
T |
C |
5: 26,226,624 (GRCm39) |
T93A |
probably damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,532,797 (GRCm39) |
Y897C |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,558,795 (GRCm39) |
C1817R |
probably damaging |
Het |
| Ier5 |
C |
A |
1: 154,974,275 (GRCm39) |
W301L |
probably damaging |
Het |
| Irf2bp2 |
A |
G |
8: 127,318,456 (GRCm39) |
L370P |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,636,344 (GRCm39) |
N677K |
probably damaging |
Het |
| Itgb7 |
G |
T |
15: 102,132,797 (GRCm39) |
R172S |
|
Het |
| Kdm6b |
A |
T |
11: 69,292,977 (GRCm39) |
C1266* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,489,343 (GRCm39) |
V4532E |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,226 (GRCm39) |
F275V |
probably damaging |
Het |
| Lrrc4 |
C |
A |
6: 28,831,595 (GRCm39) |
V7L |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,664,050 (GRCm39) |
R537H |
probably damaging |
Het |
| Mchr1 |
T |
G |
15: 81,119,980 (GRCm39) |
D2E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,245 (GRCm39) |
D212G |
probably damaging |
Het |
| Mup2 |
T |
C |
4: 60,139,717 (GRCm39) |
T24A |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,264 (GRCm39) |
K991E |
possibly damaging |
Het |
| Ndufb11b |
T |
A |
15: 81,865,011 (GRCm39) |
M84K |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,573 (GRCm39) |
A552V |
possibly damaging |
Het |
| Or2p2 |
C |
T |
13: 21,256,784 (GRCm39) |
R229H |
possibly damaging |
Het |
| Or51r1 |
T |
G |
7: 102,228,433 (GRCm39) |
S244A |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,804,479 (GRCm39) |
S527P |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,043,351 (GRCm39) |
V233E |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,888,164 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,556,246 (GRCm39) |
W72R |
unknown |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Proc |
A |
G |
18: 32,268,950 (GRCm39) |
S12P |
possibly damaging |
Het |
| Rida |
T |
A |
15: 34,488,823 (GRCm39) |
Q23L |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,587,025 (GRCm39) |
E406G |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,625 (GRCm39) |
T238A |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,894 (GRCm39) |
S3039C |
possibly damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,167 (GRCm39) |
I190V |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,257 (GRCm39) |
D882G |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,875,811 (GRCm39) |
W557R |
probably damaging |
Het |
| Strn |
C |
G |
17: 79,043,790 (GRCm39) |
A43P |
probably benign |
Het |
| Taf6 |
A |
C |
5: 138,180,465 (GRCm39) |
Y300D |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,658,933 (GRCm39) |
Y270C |
probably damaging |
Het |
| Tnnt3 |
T |
A |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,826,637 (GRCm39) |
H117R |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,839,146 (GRCm39) |
T2133S |
possibly damaging |
Het |
| Vrk2 |
T |
A |
11: 26,543,917 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,125,902 (GRCm39) |
Q1011P |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,615,403 (GRCm39) |
I306N |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,611,496 (GRCm39) |
S283P |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,939,462 (GRCm39) |
T170I |
possibly damaging |
Het |
|
| Other mutations in Ghr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ghr
|
APN |
15 |
3,357,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01366:Ghr
|
APN |
15 |
3,349,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Ghr
|
APN |
15 |
3,362,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Ghr
|
APN |
15 |
3,350,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01908:Ghr
|
APN |
15 |
3,349,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL02396:Ghr
|
APN |
15 |
3,487,480 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL02476:Ghr
|
APN |
15 |
3,349,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Ghr
|
APN |
15 |
3,357,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL03338:Ghr
|
APN |
15 |
3,377,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Elfin
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
garden
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
gnome
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Ghr
|
UTSW |
15 |
3,370,580 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Ghr
|
UTSW |
15 |
3,349,373 (GRCm39) |
missense |
probably benign |
|
|
R0581:Ghr
|
UTSW |
15 |
3,418,116 (GRCm39) |
splice site |
probably benign |
|
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1216:Ghr
|
UTSW |
15 |
3,349,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Ghr
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1607:Ghr
|
UTSW |
15 |
3,350,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Ghr
|
UTSW |
15 |
3,349,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2006:Ghr
|
UTSW |
15 |
3,357,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2197:Ghr
|
UTSW |
15 |
3,362,956 (GRCm39) |
nonsense |
probably null |
|
|
R2274:Ghr
|
UTSW |
15 |
3,349,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2332:Ghr
|
UTSW |
15 |
3,349,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4283:Ghr
|
UTSW |
15 |
3,362,930 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4519:Ghr
|
UTSW |
15 |
3,362,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Ghr
|
UTSW |
15 |
3,355,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Ghr
|
UTSW |
15 |
3,349,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4717:Ghr
|
UTSW |
15 |
3,349,235 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4724:Ghr
|
UTSW |
15 |
3,355,422 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5087:Ghr
|
UTSW |
15 |
3,349,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Ghr
|
UTSW |
15 |
3,349,561 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5429:Ghr
|
UTSW |
15 |
3,418,157 (GRCm39) |
nonsense |
probably null |
|
|
R6012:Ghr
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6135:Ghr
|
UTSW |
15 |
3,355,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6588:Ghr
|
UTSW |
15 |
3,349,750 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7069:Ghr
|
UTSW |
15 |
3,349,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Ghr
|
UTSW |
15 |
3,362,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Ghr
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Ghr
|
UTSW |
15 |
3,349,396 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7575:Ghr
|
UTSW |
15 |
3,349,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Ghr
|
UTSW |
15 |
3,487,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Ghr
|
UTSW |
15 |
3,370,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8221:Ghr
|
UTSW |
15 |
3,362,901 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9041:Ghr
|
UTSW |
15 |
3,357,530 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9467:Ghr
|
UTSW |
15 |
3,357,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9579:Ghr
|
UTSW |
15 |
3,349,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9605:Ghr
|
UTSW |
15 |
3,362,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9642:Ghr
|
UTSW |
15 |
3,355,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0017:Ghr
|
UTSW |
15 |
3,350,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ghr
|
UTSW |
15 |
3,349,694 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Ghr
|
UTSW |
15 |
3,376,967 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTATTCTTTTAGACTCCTGTGAG -3'
(R):5'- GGCTGCCAGATACCTTACTTTG -3'
Sequencing Primer
(F):5'- TGAGACAGACTCCATATACCTAAAAC -3'
(R):5'- TGAATGGACCCAGGAATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation