Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Prop1'

298103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prop1

Ensembl Gene

ENSMUSG00000044542

Gene Name

paired like homeodomain factor 1

Synonyms

Prop-1, prophet of Pit-1, prophet of Pit1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

50841633-50844584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50841773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 211 (M211K)

Ref Sequence

ENSEMBL: ENSMUSP00000057231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051159] [ENSMUST00000162420]

AlphaFold

P97458

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051159
AA Change: M211K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057231
Gene: ENSMUSG00000044542
AA Change: M211K

Domain	Start	End	E-Value	Type
HOX	66	128	4.85e-25	SMART
low complexity region	150	168	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159179

Predicted Effect

probably benign
Transcript: ENSMUST00000162420

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	possibly damaging	Het

Other mutations in Prop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Prop1	APN	11	50,842,956 (GRCm39)	missense	probably damaging	1.00
IGL02192:Prop1	APN	11	50,844,113 (GRCm39)	splice site	probably benign
IGL02219:Prop1	APN	11	50,842,911 (GRCm39)	missense	probably damaging	1.00
R1642:Prop1	UTSW	11	50,844,152 (GRCm39)	missense	possibly damaging	0.46
R4909:Prop1	UTSW	11	50,842,872 (GRCm39)	missense	probably damaging	1.00
R4909:Prop1	UTSW	11	50,842,863 (GRCm39)	frame shift	probably null
R5743:Prop1	UTSW	11	50,841,836 (GRCm39)	missense	probably damaging	1.00
R5879:Prop1	UTSW	11	50,844,153 (GRCm39)	missense	probably damaging	0.97
R6324:Prop1	UTSW	11	50,843,026 (GRCm39)	missense	probably benign	0.03
R6721:Prop1	UTSW	11	50,844,213 (GRCm39)	missense	probably benign	0.27
R7162:Prop1	UTSW	11	50,842,881 (GRCm39)	missense	probably damaging	0.99
R8995:Prop1	UTSW	11	50,841,887 (GRCm39)	missense	possibly damaging	0.94
R9049:Prop1	UTSW	11	50,842,948 (GRCm39)	missense	probably damaging	0.99
R9132:Prop1	UTSW	11	50,843,037 (GRCm39)	missense
RF005:Prop1	UTSW	11	50,841,957 (GRCm39)	missense	possibly damaging	0.69
RF024:Prop1	UTSW	11	50,841,957 (GRCm39)	missense	possibly damaging	0.69

Posted On

2015-04-16