Mutagenetix > Incidental Mutation

Incidental Mutation 'R4493:Prlhr'

330854

Institutional Source

Beutler Lab

Gene Symbol

Prlhr

Ensembl Gene

ENSMUSG00000045052

Gene Name

prolactin releasing hormone receptor

Synonyms

PrRPR, LOC226278, GR3, Gpr10

MMRRC Submission

041748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4493 (G1)

Quality Score

185

Status

Validated

Chromosome

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

94% (45/48)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1b	T	C	2: 24,542,950 (GRCm39)	T1301A	probably damaging	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Ccdc146	T	C	5: 21,508,191 (GRCm39)	E619G	possibly damaging	Het
Cfap91	T	C	16: 38,162,130 (GRCm39)	T4A	probably benign	Het
Cmya5	T	C	13: 93,230,573 (GRCm39)	E1505G	probably benign	Het
Cngb3	C	A	4: 19,367,778 (GRCm39)	P229Q	probably damaging	Het
Ctnna2	A	G	6: 76,958,831 (GRCm39)	V461A	probably damaging	Het
D430041D05Rik	T	C	2: 104,086,684 (GRCm39)	D764G	probably benign	Het
Dgki	T	C	6: 36,951,796 (GRCm39)		probably benign	Het
Dhx36	A	T	3: 62,395,925 (GRCm39)		probably benign	Het
Gcn1	T	C	5: 115,732,203 (GRCm39)	I1006T	probably benign	Het
Glt8d2	T	A	10: 82,500,547 (GRCm39)	M20L	possibly damaging	Het
Greb1	C	A	12: 16,748,611 (GRCm39)	G1122V	probably benign	Het
Hmcn1	A	T	1: 150,577,650 (GRCm39)	I2037N	probably damaging	Het
Hspa4l	A	G	3: 40,722,434 (GRCm39)	I340V	possibly damaging	Het
Itpr3	A	G	17: 27,323,586 (GRCm39)	K1204E	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcph1	T	A	8: 18,681,752 (GRCm39)	C296*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naga	A	G	15: 82,216,715 (GRCm39)	F259S	probably damaging	Het
Nes	A	G	3: 87,884,120 (GRCm39)	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Pcdha4	A	T	18: 37,087,644 (GRCm39)	Y609F	possibly damaging	Het
Pgam1	C	T	19: 41,904,215 (GRCm39)	A104V	possibly damaging	Het
Piezo2	T	C	18: 63,247,134 (GRCm39)	I525V	probably damaging	Het
Pold1	A	G	7: 44,187,132 (GRCm39)	V683A	probably damaging	Het
Poteg	T	C	8: 27,970,125 (GRCm39)	V316A	possibly damaging	Het
Ppih	A	T	4: 119,168,042 (GRCm39)	N156K	probably damaging	Het
Prep	T	C	10: 44,996,915 (GRCm39)	F398L	probably benign	Het
Rtp4	A	T	16: 23,428,827 (GRCm39)	H30L	probably benign	Het
Stkld1	A	G	2: 26,836,638 (GRCm39)	N268S	probably benign	Het
Syt6	A	G	3: 103,492,946 (GRCm39)	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,928,317 (GRCm39)	I85V	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tprn	T	C	2: 25,158,904 (GRCm39)	S643P	probably damaging	Het
Trrap	T	C	5: 144,767,858 (GRCm39)	V2605A	probably benign	Het
Vmn1r230	T	A	17: 21,066,863 (GRCm39)	N17K	probably benign	Het
Xkrx	T	C	X: 133,051,745 (GRCm39)	N302S	possibly damaging	Het
Zfp946	T	A	17: 22,670,067 (GRCm39)		probably null	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
R4494:Prlhr	UTSW	19	60,455,519 (GRCm39)	missense	probably benign	0.04
R4495: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'- AGGCTCTTCTGCTCCAAAG -3'
(R):5'- GCCGCTGCACATTTTCAAC -3'

Sequencing Primer
(F):5'- CCAGACAAATCAAAAGGGCTG -3'
(R):5'- TCAACCTATTGCGAGACCTGG -3'

Posted On

2015-07-21