Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Glipr1'

716841

Institutional Source

Beutler Lab

Gene Symbol

Glipr1

Ensembl Gene

ENSMUSG00000056888

Gene Name

GLI pathogenesis related 1

Synonyms

mRTVP-1, RTVP-1, RTVP1, 2410114O14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111821353-111838536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111832801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000074359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074805] [ENSMUST00000161870] [ENSMUST00000162508]

AlphaFold

Q9CWG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074805
AA Change: S46P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074359
Gene: ENSMUSG00000056888
AA Change: S46P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SCP	32	172	4.04e-55	SMART
transmembrane domain	222	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161870

SMART Domains

Protein: ENSMUSP00000134094
Gene: ENSMUSG00000056888

Domain	Start	End	E-Value	Type
Pfam:CAP	1	42	9.2e-10	PFAM
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162508
AA Change: S46P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123990
Gene: ENSMUSG00000056888
AA Change: S46P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SCP	32	172	4.04e-55	SMART
transmembrane domain	222	244	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,002,683 (GRCm39)	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adam19	T	C	11: 46,028,449 (GRCm39)	V694A	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bcl11a	T	C	11: 24,114,582 (GRCm39)	F642L	probably benign	Het
Camk2d	T	C	3: 126,561,209 (GRCm39)	Y108H	probably damaging	Het
Castor2	G	T	5: 134,164,536 (GRCm39)	V166L	probably benign	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Ccdc69	T	A	11: 54,945,856 (GRCm39)	N50I	possibly damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Chrna10	C	A	7: 101,762,801 (GRCm39)	A130S	probably benign	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,103,591 (GRCm39)	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dnhd1	A	G	7: 105,300,804 (GRCm39)	I54V	probably benign	Het
Dnttip1	A	C	2: 164,593,162 (GRCm39)	D95A	probably benign	Het
Efna3	T	C	3: 89,222,818 (GRCm39)	T207A	probably benign	Het
Eprs1	A	C	1: 185,139,895 (GRCm39)	S995R	probably benign	Het
Eprs1	G	A	1: 185,139,896 (GRCm39)	S995N	probably benign	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fgf6	A	C	6: 126,992,814 (GRCm39)	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Gata3un	CGG	CG	2: 9,888,075 (GRCm39)		probably null	Het
Gdpd5	A	G	7: 99,103,031 (GRCm39)	D330G		Het
Gnptab	A	G	10: 88,268,992 (GRCm39)	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,596,936 (GRCm39)	V47I	probably benign	Het
Heatr5b	T	A	17: 79,060,679 (GRCm39)	K1999*	probably null	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mmp9	A	G	2: 164,793,146 (GRCm39)	N432D	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
Ndc1	T	C	4: 107,247,863 (GRCm39)		probably null	Het
Npy	A	C	6: 49,804,545 (GRCm39)	T89P	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or52e19	A	G	7: 102,959,452 (GRCm39)	I175V	probably benign	Het
Or52e8	A	T	7: 104,624,856 (GRCm39)	M116K	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Ralgapb	C	T	2: 158,268,283 (GRCm39)	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,605,169 (GRCm39)	V1074M	probably benign	Het
Scfd2	T	C	5: 74,680,235 (GRCm39)	D306G	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Serpinb6c	T	A	13: 34,081,421 (GRCm39)	Q76L	probably null	Het
Setd7	G	A	3: 51,450,139 (GRCm39)	Q96*	probably null	Het
Sf3b4	C	T	3: 96,080,946 (GRCm39)	R85W	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc36a3	T	C	11: 55,040,726 (GRCm39)	E69G	unknown	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,940,599 (GRCm39)	P904L	probably benign	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Tenm2	T	C	11: 36,834,791 (GRCm39)	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,022 (GRCm39)	G1058R		Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,378,037 (GRCm39)	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,062,376 (GRCm39)	P142T	probably damaging	Het

Other mutations in Glipr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Glipr1	APN	10	111,821,555 (GRCm39)	missense	probably benign
IGL00553:Glipr1	APN	10	111,822,574 (GRCm39)	missense	possibly damaging	0.79
IGL02391:Glipr1	APN	10	111,824,799 (GRCm39)	unclassified	probably benign
R0115:Glipr1	UTSW	10	111,829,446 (GRCm39)	missense	probably benign	0.00
R0486:Glipr1	UTSW	10	111,832,754 (GRCm39)	splice site	probably benign
R1349:Glipr1	UTSW	10	111,829,437 (GRCm39)	missense	probably benign	0.02
R1822:Glipr1	UTSW	10	111,832,765 (GRCm39)	missense	possibly damaging	0.84
R4364:Glipr1	UTSW	10	111,821,542 (GRCm39)	missense	possibly damaging	0.84
R4905:Glipr1	UTSW	10	111,821,545 (GRCm39)	missense	probably damaging	1.00
R4974:Glipr1	UTSW	10	111,829,411 (GRCm39)	nonsense	probably null
R5734:Glipr1	UTSW	10	111,821,698 (GRCm39)	nonsense	probably null
R7603:Glipr1	UTSW	10	111,824,737 (GRCm39)	missense	probably benign	0.07
R8238:Glipr1	UTSW	10	111,829,345 (GRCm39)	critical splice donor site	probably null
R9605:Glipr1	UTSW	10	111,832,801 (GRCm39)	missense	probably damaging	1.00
Z1176:Glipr1	UTSW	10	111,824,742 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GTCGACTCTGATTGCAAGCTG -3'
(R):5'- CGAGCATTCTATCAGAACCCCG -3'

Sequencing Primer
(F):5'- GCAAGCTGAGTTTACTGCAC -3'
(R):5'- GCAGCTCTGGATTCTAGGTCC -3'

Posted On

2022-07-18