Mutagenetix > Incidental Mutation

Incidental Mutation 'R1642:Prop1'

173617

Institutional Source

Beutler Lab

Gene Symbol

Prop1

Ensembl Gene

ENSMUSG00000044542

Gene Name

paired like homeodomain factor 1

Synonyms

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

MMRRC Submission

039678-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R1642 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

50841633-50844584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50844152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000125413 (fasta)

Gene Model

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

AlphaFold

P97458

Predicted Effect

probably benign
Transcript: ENSMUST00000051159
AA Change: V27A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057231
Gene: ENSMUSG00000044542
AA Change: V27A

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

possibly damaging
Transcript: ENSMUST00000162420
AA Change: V27A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,862,233 (GRCm39)	V19A	probably benign	Het
6820408C15Rik	T	C	2: 152,282,774 (GRCm39)	Y210H	probably damaging	Het
Aars1	T	A	8: 111,769,882 (GRCm39)	I327N	possibly damaging	Het
Abca6	T	A	11: 110,109,107 (GRCm39)	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,947,382 (GRCm39)	K457R	probably benign	Het
Acsm2	A	T	7: 119,162,860 (GRCm39)	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,917 (GRCm39)	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,060,588 (GRCm39)	M174K	probably benign	Het
Armh4	T	C	14: 50,005,867 (GRCm39)		probably null	Het
Bfsp1	G	A	2: 143,683,683 (GRCm39)	R214W	probably damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Clip2	T	C	5: 134,532,107 (GRCm39)	D566G	possibly damaging	Het
Colgalt1	A	G	8: 72,073,401 (GRCm39)	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,390,153 (GRCm39)	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,406,399 (GRCm39)	I18F	unknown	Het
Degs2	C	T	12: 108,658,451 (GRCm39)	C176Y	probably benign	Het
Dhx16	A	T	17: 36,201,957 (GRCm39)	T995S	probably damaging	Het
Dicer1	A	T	12: 104,679,415 (GRCm39)	C521S	probably damaging	Het
Dop1b	T	C	16: 93,559,203 (GRCm39)	S532P	probably benign	Het
Dpysl4	T	G	7: 138,670,254 (GRCm39)	M124R	probably damaging	Het
Eml6	A	G	11: 29,727,001 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,370,393 (GRCm39)	V395D	probably damaging	Het
Esf1	T	C	2: 140,000,406 (GRCm39)	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,305,634 (GRCm39)	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965 (GRCm39)	S221R	probably benign	Het
Fstl5	T	A	3: 76,317,929 (GRCm39)	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,029,906 (GRCm39)	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,873,535 (GRCm39)	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,708,471 (GRCm39)		probably benign	Het
Iqca1l	C	A	5: 24,757,686 (GRCm39)	R177L	probably damaging	Het
Itgb4	A	T	11: 115,898,183 (GRCm39)	R1646W	probably damaging	Het
Klri2	A	T	6: 129,715,837 (GRCm39)	C121S	probably benign	Het
Lamc3	A	G	2: 31,806,008 (GRCm39)	Y703C	probably damaging	Het
Lrrc10	A	G	10: 116,881,788 (GRCm39)	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,050,317 (GRCm39)	F812L	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nav1	T	C	1: 135,380,010 (GRCm39)	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Neurl4	A	G	11: 69,794,485 (GRCm39)	M23V	probably benign	Het
Nnt	A	G	13: 119,541,086 (GRCm39)		probably null	Het
Nolc1	G	C	19: 46,067,461 (GRCm39)		probably null	Het
Nrg1	A	T	8: 32,314,536 (GRCm39)	M289K	probably benign	Het
Oas3	G	T	5: 120,915,639 (GRCm39)	H17Q	possibly damaging	Het
Or10h1	A	G	17: 33,418,430 (GRCm39)	Y132C	probably damaging	Het
Or2z2	A	G	11: 58,346,664 (GRCm39)	I37T	probably benign	Het
Or5m5	A	G	2: 85,814,201 (GRCm39)	K6E	probably benign	Het
Or8g36	C	T	9: 39,422,650 (GRCm39)	R122H	possibly damaging	Het
Parp9	T	C	16: 35,788,067 (GRCm39)	Y612H	probably benign	Het
Pcdh1	A	T	18: 38,332,283 (GRCm39)	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,533,987 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,366,518 (GRCm39)	V42A	probably damaging	Het
Ppic	C	T	18: 53,540,134 (GRCm39)	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 94,892,150 (GRCm39)		silent	Het
Psmc5	A	G	11: 106,153,242 (GRCm39)	T295A	probably benign	Het
Rpa1	A	G	11: 75,203,517 (GRCm39)		probably null	Het
Rrp12	A	G	19: 41,860,176 (GRCm39)	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,514,041 (GRCm39)	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,032,160 (GRCm39)	H655L	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,298,694 (GRCm39)	I1071T	possibly damaging	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Triobp	C	A	15: 78,886,348 (GRCm39)	R1830S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Znfx1	T	C	2: 166,880,930 (GRCm39)	I285V	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
IGL02551:Prop1	APN	11	50,841,773 (GRCm39)	missense	possibly damaging	0.83
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

Predicted Primers

PCR Primer
(F):5'- GCCTCACTTCTCAACCTGTAAAGCG -3'
(R):5'- TGACAGAGCACCTTCTCTCATCTGAC -3'

Sequencing Primer
(F):5'- CCTGTAAAGCGAAGGATTTCTGC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-04-24