Incidental Mutation 'R4495:Prlhr'
| ID |
330954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prlhr
|
| Ensembl Gene |
ENSMUSG00000045052 |
| Gene Name |
prolactin releasing hormone receptor |
| Synonyms |
PrRPR, LOC226278, GR3, Gpr10 |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
60455170-60456742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60455519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 349
(M349K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051277]
|
| AlphaFold |
Q6VMN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051277
AA Change: M349K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063114
Gene: ENSMUSG00000045052
AA Change: M349K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
67 |
352 |
4.8e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
71 |
350 |
7.4e-16 |
PFAM |
|
Pfam:7tm_1
|
77 |
335 |
2.7e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene ate more than normal and became obese as they aged. [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 |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
Het |
|
| Other mutations in Prlhr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Prlhr
|
APN |
19 |
60,456,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02306:Prlhr
|
APN |
19 |
60,456,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Prlhr
|
APN |
19 |
60,455,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Prlhr
|
APN |
19 |
60,456,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Prlhr
|
UTSW |
19 |
60,456,497 (GRCm39) |
nonsense |
probably null |
|
|
R0718:Prlhr
|
UTSW |
19 |
60,456,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Prlhr
|
UTSW |
19 |
60,455,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Prlhr
|
UTSW |
19 |
60,455,932 (GRCm39) |
nonsense |
probably null |
|
|
R4493:Prlhr
|
UTSW |
19 |
60,455,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4494:Prlhr
|
UTSW |
19 |
60,455,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5762:Prlhr
|
UTSW |
19 |
60,455,506 (GRCm39) |
nonsense |
probably null |
|
|
R5869:Prlhr
|
UTSW |
19 |
60,456,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5886:Prlhr
|
UTSW |
19 |
60,456,014 (GRCm39) |
nonsense |
probably null |
|
|
R7651:Prlhr
|
UTSW |
19 |
60,455,583 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7809:Prlhr
|
UTSW |
19 |
60,456,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Prlhr
|
UTSW |
19 |
60,455,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Prlhr
|
UTSW |
19 |
60,456,284 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8481:Prlhr
|
UTSW |
19 |
60,456,125 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8560:Prlhr
|
UTSW |
19 |
60,456,635 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Prlhr
|
UTSW |
19 |
60,455,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTCTTCTGCTCCAAAG -3'
(R):5'- TGCCGCTGCACATTTTCAAC -3'
Sequencing Primer
(F):5'- CCAGACAAATCAAAAGGGCTG -3'
(R):5'- TCAACCTATTGCGAGACCTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation