Mutagenetix > Incidental Mutation

Incidental Mutation 'R4558:Pabir2'

342962

Institutional Source

Beutler Lab

Gene Symbol

Pabir2

Ensembl Gene

ENSMUSG00000036022

Gene Name

PABIR family member 2

Synonyms

Fam122b, 4632404H22Rik

MMRRC Submission

042005-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4558 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

52332292-52358682 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 52349554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071023] [ENSMUST00000071023] [ENSMUST00000114838] [ENSMUST00000114838] [ENSMUST00000114841] [ENSMUST00000114841]

AlphaFold

Q6NZE7

Predicted Effect

probably benign
Transcript: ENSMUST00000071023

SMART Domains

Protein: ENSMUSP00000069112
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071023

SMART Domains

Protein: ENSMUSP00000069112
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114838

SMART Domains

Protein: ENSMUSP00000110487
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC
low complexity region	206	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114838

SMART Domains

Protein: ENSMUSP00000110487
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC
low complexity region	206	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114841

SMART Domains

Protein: ENSMUSP00000110490
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114841

SMART Domains

Protein: ENSMUSP00000110490
Gene: ENSMUSG00000036022

Domain	Start	End	E-Value	Type
low complexity region	83	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143069

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (36/36)

MGI Phenotype

PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear phenotypically normal at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,567,240 (GRCm39)		noncoding transcript	Het
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Acot11	T	C	4: 106,605,563 (GRCm39)	N583S	probably damaging	Het
Alox12	T	G	11: 70,143,889 (GRCm39)	M164L	probably benign	Het
Atad2b	A	G	12: 4,993,223 (GRCm39)	I247M	probably benign	Het
Bmpr2	T	A	1: 59,884,851 (GRCm39)	M279K	probably damaging	Het
Cacna2d3	T	C	14: 28,825,670 (GRCm39)	T502A	possibly damaging	Het
Casp12	A	T	9: 5,352,742 (GRCm39)	Y188F	probably damaging	Het
Catsperb	A	G	12: 101,557,799 (GRCm39)	Y790C	possibly damaging	Het
Cnbd1	G	T	4: 19,055,095 (GRCm39)	N110K	possibly damaging	Het
Entrep1	G	A	19: 24,007,913 (GRCm39)	S130L	probably damaging	Het
Fam227b	C	T	2: 125,968,963 (GRCm39)	S37N	probably benign	Het
Fsip2	T	C	2: 82,815,297 (GRCm39)	S3677P	possibly damaging	Het
Gm10764	A	G	10: 87,126,682 (GRCm39)		noncoding transcript	Het
H2-Q6	T	C	17: 35,647,291 (GRCm39)	V312A	probably benign	Het
Hecw1	T	A	13: 14,422,190 (GRCm39)	D972V	probably damaging	Het
Kalrn	G	A	16: 33,807,578 (GRCm39)	T2597I	possibly damaging	Het
Kng1	C	A	16: 22,896,168 (GRCm39)		probably null	Het
Med13	T	C	11: 86,189,880 (GRCm39)	T1010A	probably damaging	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Ncapg	A	T	5: 45,833,986 (GRCm39)	T341S	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pcdhb4	A	G	18: 37,443,017 (GRCm39)	I776V	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Pramel13	T	C	4: 144,122,542 (GRCm39)	M1V	probably null	Het
Psd4	G	A	2: 24,294,806 (GRCm39)	V789M	probably damaging	Het
Rasa3	T	C	8: 13,648,259 (GRCm39)	E135G	probably damaging	Het
Serpinb9c	T	A	13: 33,338,482 (GRCm39)	E139V	probably benign	Het
Sgsm1	G	A	5: 113,405,977 (GRCm39)		probably benign	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Upf2	A	G	2: 5,978,404 (GRCm39)	M423V	unknown	Het
Vmn1r207	A	G	13: 22,910,581 (GRCm39)		noncoding transcript	Het

Other mutations in Pabir2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Pabir2	APN	X	52,334,208 (GRCm39)	missense	probably damaging	1.00
IGL01397:Pabir2	APN	X	52,349,088 (GRCm39)	missense	probably damaging	1.00
R1416:Pabir2	UTSW	X	52,335,023 (GRCm39)	makesense	probably null
R1854:Pabir2	UTSW	X	52,342,933 (GRCm39)	missense	probably benign	0.01
R1855:Pabir2	UTSW	X	52,342,933 (GRCm39)	missense	probably benign	0.01
R4559:Pabir2	UTSW	X	52,349,554 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAACAACACAAAGCTTTCTGG -3'
(R):5'- GCCGGAAGCATTACACTTG -3'

Sequencing Primer
(F):5'- TTTCTGGAAAATGACAACACAGGC -3'
(R):5'- CGGAAGCATTACACTTGCATGTACTC -3'

Posted On

2015-09-24