Incidental Mutation 'R7922:Ghr'
| ID |
648479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ghr
|
| Ensembl Gene |
ENSMUSG00000055737 |
| Gene Name |
growth hormone receptor |
| Synonyms |
GHR/BP, GHBP |
| MMRRC Submission |
045969-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3370556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 103
(T103I)
|
| 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: T103I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: T103I
| 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: T103I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: T103I
| 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: T103I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: T103I
| 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: T103I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: T103I
| 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: T103I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737
AA Change: T103I
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,211,180 (GRCm39) |
T638M |
possibly damaging |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,067 (GRCm39) |
|
probably null |
Het |
| Abi3 |
A |
T |
11: 95,723,619 (GRCm39) |
Y342N |
unknown |
Het |
| Adk |
G |
A |
14: 21,368,111 (GRCm39) |
V195I |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,998,375 (GRCm39) |
V268M |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,835,615 (GRCm39) |
I1077V |
probably benign |
Het |
| Arap1 |
A |
T |
7: 101,053,621 (GRCm39) |
K1317* |
probably null |
Het |
| Auts2 |
T |
A |
5: 131,469,211 (GRCm39) |
D493V |
|
Het |
| Baz1b |
A |
T |
5: 135,260,533 (GRCm39) |
Q1110L |
probably damaging |
Het |
| Brsk2 |
T |
A |
7: 141,546,957 (GRCm39) |
S467T |
possibly damaging |
Het |
| Btbd9 |
A |
T |
17: 30,493,858 (GRCm39) |
M511K |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,218,485 (GRCm39) |
Y1385F |
probably benign |
Het |
| Cfap100 |
A |
C |
6: 90,380,962 (GRCm39) |
L427V |
unknown |
Het |
| Cnga1 |
A |
G |
5: 72,762,225 (GRCm39) |
F430L |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,562 (GRCm39) |
L254F |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,317,721 (GRCm39) |
D472V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,598,154 (GRCm39) |
E339V |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,764,280 (GRCm39) |
V379E |
probably damaging |
Het |
| Erich4 |
T |
A |
7: 25,315,168 (GRCm39) |
N36Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,725 (GRCm39) |
T1261A |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,503 (GRCm39) |
D223V |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,165,315 (GRCm39) |
Y218* |
probably null |
Het |
| Gcn1 |
G |
T |
5: 115,752,527 (GRCm39) |
M2177I |
probably benign |
Het |
| Gipc1 |
T |
C |
8: 84,387,857 (GRCm39) |
V79A |
probably benign |
Het |
| Gm13272 |
T |
A |
4: 88,698,577 (GRCm39) |
V164D |
probably damaging |
Het |
| Gramd4 |
C |
A |
15: 86,016,159 (GRCm39) |
H503Q |
probably benign |
Het |
| Gstm4 |
A |
T |
3: 107,951,987 (GRCm39) |
M1K |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,067,988 (GRCm39) |
Q1800L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,836,978 (GRCm39) |
K826* |
probably null |
Het |
| Hoxa9 |
T |
C |
6: 52,201,289 (GRCm39) |
I251V |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,679,177 (GRCm39) |
I46F |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,453 (GRCm39) |
R320S |
probably benign |
Het |
| Iscu |
A |
T |
5: 113,912,343 (GRCm39) |
N46I |
probably damaging |
Het |
| Iscu |
G |
A |
5: 113,912,410 (GRCm39) |
R60Q |
unknown |
Het |
| Kcnk3 |
A |
T |
5: 30,745,875 (GRCm39) |
H72L |
probably damaging |
Het |
| Kmt2a |
T |
G |
9: 44,754,157 (GRCm39) |
S1228R |
unknown |
Het |
| Mbl2 |
T |
A |
19: 30,216,638 (GRCm39) |
L150Q |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,161,831 (GRCm39) |
F2166Y |
probably damaging |
Het |
| Mterf4 |
A |
C |
1: 93,229,275 (GRCm39) |
L246* |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,496,121 (GRCm39) |
Q6690R |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,699,719 (GRCm39) |
L1722Q |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,454 (GRCm39) |
M237V |
probably benign |
Het |
| Olfml1 |
A |
G |
7: 107,170,356 (GRCm39) |
Y81C |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,872 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,226 (GRCm39) |
N411I |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,002 (GRCm39) |
F691L |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,990,517 (GRCm39) |
V481A |
probably damaging |
Het |
| Pik3r6 |
A |
T |
11: 68,424,701 (GRCm39) |
R435S |
probably benign |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,013 (GRCm39) |
H2250Y |
|
Het |
| Pkd1l1 |
A |
G |
11: 8,859,857 (GRCm39) |
S1034P |
|
Het |
| Plcd1 |
C |
A |
9: 118,903,720 (GRCm39) |
R400L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,174,879 (GRCm39) |
T58A |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,725 (GRCm39) |
E5G |
possibly damaging |
Het |
| Pradc1 |
A |
C |
6: 85,424,950 (GRCm39) |
F82L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,416 (GRCm39) |
S416R |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,117 (GRCm39) |
C390R |
probably benign |
Het |
| Rhot1 |
A |
G |
11: 80,156,629 (GRCm39) |
T655A |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,298,495 (GRCm39) |
I348V |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,796,649 (GRCm39) |
V1051E |
probably benign |
Het |
| Sema5b |
GCAC |
GC |
16: 35,478,626 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
A |
1: 107,199,744 (GRCm39) |
T259I |
probably damaging |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,438 (GRCm39) |
M70K |
probably damaging |
Het |
| Sinhcaf |
T |
A |
6: 148,827,644 (GRCm39) |
T125S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,391,230 (GRCm39) |
V607I |
probably benign |
Het |
| Spop |
A |
T |
11: 95,362,154 (GRCm39) |
N62Y |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,066,823 (GRCm39) |
F130S |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,043,066 (GRCm39) |
H420R |
possibly damaging |
Het |
| Tecpr2 |
CA |
C |
12: 110,899,076 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
C |
17: 34,933,577 (GRCm39) |
K2332N |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,512 (GRCm39) |
Y588H |
probably damaging |
Het |
| Trim71 |
G |
A |
9: 114,342,153 (GRCm39) |
R710C |
probably damaging |
Het |
| Tsen54 |
C |
T |
11: 115,711,608 (GRCm39) |
Q342* |
probably null |
Het |
| Ube2r2 |
T |
A |
4: 41,190,812 (GRCm39) |
N235K |
unknown |
Het |
| Utrn |
C |
A |
10: 12,543,271 (GRCm39) |
K1792N |
possibly damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,587 (GRCm39) |
I156T |
possibly damaging |
Het |
| Vmn1r94 |
T |
C |
7: 19,901,636 (GRCm39) |
T223A |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,683 (GRCm39) |
R369W |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,409 (GRCm39) |
A717S |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,159,647 (GRCm39) |
C398S |
unknown |
Het |
| Zc3hc1 |
T |
A |
6: 30,390,874 (GRCm39) |
E43V |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,600,511 (GRCm39) |
V415D |
possibly damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,768 (GRCm39) |
H441R |
probably 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 |
|
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 |
|
R9074:Ghr
|
UTSW |
15 |
3,370,470 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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'- ATTATACTTGGAAATTGGGGCTTCC -3'
(R):5'- AGAACTGGTCTTGCTGAAGTG -3'
Sequencing Primer
(F):5'- GCTTTGTCAAATGAAAGCAACC -3'
(R):5'- GCATAGTTTCGGGAACGA -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation