Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Prlhr'

291758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prlhr

Ensembl Gene

ENSMUSG00000045052

Gene Name

prolactin releasing hormone receptor

Synonyms

PrRPR, LOC226278, GR3, Gpr10

Accession Numbers

Essential gene?

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

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

60455170-60456742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60455753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 271 (A271E)

Ref Sequence

ENSEMBL: ENSMUSP00000063114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051277]

AlphaFold

Q6VMN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051277
AA Change: A271E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063114
Gene: ENSMUSG00000045052
AA Change: A271E

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

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	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
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
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

Posted On

2015-04-16