Mutagenetix > Incidental Mutation

Incidental Mutation 'R9793:Glipr1l2'

734763

Institutional Source

Beutler Lab

Gene Symbol

Glipr1l2

Ensembl Gene

ENSMUSG00000020214

Gene Name

GLI pathogenesis-related 1 like 2

Synonyms

4921508O11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111919259-111944003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111942905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 253 (I253M)

Ref Sequence

ENSEMBL: ENSMUSP00000020434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020434] [ENSMUST00000148897]

AlphaFold

Q9CQ35

Predicted Effect

probably benign
Transcript: ENSMUST00000020434
AA Change: I253M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
AA Change: I253M

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
SCP	49	199	7.3e-30	SMART
transmembrane domain	251	273	N/A	INTRINSIC
low complexity region	303	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148897

SMART Domains

Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
SCP	49	199	7.3e-30	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Aldh3a1	T	C	11: 61,108,927 (GRCm39)	Y443H	probably damaging	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntln	C	T	4: 84,985,798 (GRCm39)	L951F	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dop1b	T	A	16: 93,598,503 (GRCm39)	D2006E	probably benign	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Kif26a	C	T	12: 112,142,887 (GRCm39)	A1047V	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Sirpb1b	G	A	3: 15,640,074 (GRCm39)		probably benign	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Srrt	G	C	5: 137,294,835 (GRCm39)	I739M	probably benign	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably damaging	Het

Other mutations in Glipr1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Glipr1l2	APN	10	111,933,887 (GRCm39)	missense	probably benign
IGL02236:Glipr1l2	APN	10	111,928,534 (GRCm39)	missense	probably damaging	1.00
IGL02683:Glipr1l2	APN	10	111,919,381 (GRCm39)	missense	probably benign
PIT1430001:Glipr1l2	UTSW	10	111,942,745 (GRCm39)	missense	probably benign	0.02
R0450:Glipr1l2	UTSW	10	111,928,477 (GRCm39)	missense	probably benign	0.02
R1172:Glipr1l2	UTSW	10	111,919,371 (GRCm39)	missense	possibly damaging	0.91
R1173:Glipr1l2	UTSW	10	111,919,371 (GRCm39)	missense	possibly damaging	0.91
R1174:Glipr1l2	UTSW	10	111,919,371 (GRCm39)	missense	possibly damaging	0.91
R1175:Glipr1l2	UTSW	10	111,919,371 (GRCm39)	missense	possibly damaging	0.91
R1743:Glipr1l2	UTSW	10	111,928,470 (GRCm39)	missense	probably benign	0.01
R1918:Glipr1l2	UTSW	10	111,928,550 (GRCm39)	nonsense	probably null
R4879:Glipr1l2	UTSW	10	111,943,029 (GRCm39)	missense	probably benign	0.01
R4964:Glipr1l2	UTSW	10	111,942,904 (GRCm39)	missense	possibly damaging	0.49
R5122:Glipr1l2	UTSW	10	111,942,961 (GRCm39)	missense	possibly damaging	0.94
R6059:Glipr1l2	UTSW	10	111,919,423 (GRCm39)	missense	probably benign	0.01
R7102:Glipr1l2	UTSW	10	111,928,330 (GRCm39)	critical splice acceptor site	probably null
R7593:Glipr1l2	UTSW	10	111,928,465 (GRCm39)	missense	probably damaging	0.98
R8503:Glipr1l2	UTSW	10	111,943,075 (GRCm39)	missense	probably benign	0.01
R9658:Glipr1l2	UTSW	10	111,942,868 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGTTCGTGATGAAGCTACATGTATG -3'
(R):5'- GCATTCTACCTTTTAACGTTTTGGG -3'

Sequencing Primer
(F):5'- CAGTGTTACATGAAATCTAGCT -3'
(R):5'- ATTGAGTTGTCTTCTTCCTGCATC -3'

Posted On

2022-11-14