Mutagenetix > Incidental Mutation

Incidental Mutation 'R4640:Phxr2'

351616

Institutional Source

Beutler Lab

Gene Symbol

Phxr2

Ensembl Gene

ENSMUSG00000055108

Gene Name

per-hexamer repeat gene 2

Synonyms

SP28

MMRRC Submission

041902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4640 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98961029-98962187 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 98961931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000060761] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]

AlphaFold

P15972

Predicted Effect

probably benign
Transcript: ENSMUST00000020113

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000060761
AA Change: Q43R

Predicted Effect

probably benign
Transcript: ENSMUST00000159043

SMART Domains

Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	2	38	5.95e-7	SMART
Blast:WD40	41	75	9e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159228

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	401	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159990

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	8.68e-9	SMART
WD40	49	88	2.71e-10	SMART
WD40	91	130	2.43e-12	SMART
WD40	133	172	2.07e-6	SMART
WD40	175	214	1.71e-7	SMART
WD40	217	256	7.55e-9	SMART
coiled coil region	386	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl4	T	C	3: 151,205,947 (GRCm39)		probably benign	Het
Ano4	C	T	10: 88,790,559 (GRCm39)	A847T	probably damaging	Het
Atp11a	A	G	8: 12,878,434 (GRCm39)		probably benign	Het
Cct4	T	A	11: 22,952,297 (GRCm39)	S463T	probably benign	Het
Cfap251	G	T	5: 123,440,495 (GRCm39)	V1094L	probably benign	Het
Cnmd	T	C	14: 79,894,093 (GRCm39)	N98S	probably damaging	Het
Copz2	A	T	11: 96,747,533 (GRCm39)	Q172L	possibly damaging	Het
Ctdp1	C	A	18: 80,494,369 (GRCm39)		probably null	Het
Cyfip1	C	T	7: 55,563,199 (GRCm39)	T865I	possibly damaging	Het
Cyp2c37	A	T	19: 40,000,276 (GRCm39)	D466V	possibly damaging	Het
Dytn	A	G	1: 63,682,507 (GRCm39)	L380P	possibly damaging	Het
Fam124b	G	A	1: 80,191,243 (GRCm39)	R47C	probably damaging	Het
Foxe3	G	A	4: 114,782,972 (GRCm39)	A80V	probably damaging	Het
Gm5884	A	G	6: 128,622,734 (GRCm39)		noncoding transcript	Het
Kera	A	T	10: 97,448,749 (GRCm39)	Y323F	probably damaging	Het
Lipf	A	T	19: 33,946,197 (GRCm39)	Y205F	probably damaging	Het
Lipo2	T	C	19: 33,698,237 (GRCm39)	E380G	probably benign	Het
Mcm2	A	T	6: 88,864,786 (GRCm39)	H563Q	possibly damaging	Het
Mindy3	T	C	2: 12,352,974 (GRCm39)	E409G	probably benign	Het
Mns1	A	G	9: 72,346,564 (GRCm39)	K16E	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4g	T	C	9: 124,349,153 (GRCm38)		noncoding transcript	Het
Nrxn1	A	G	17: 90,868,196 (GRCm39)	S1105P	probably damaging	Het
Odf2l	G	A	3: 144,834,706 (GRCm39)	R186H	probably damaging	Het
Or13g1	T	A	7: 85,956,274 (GRCm39)	T16S	probably benign	Het
Or2d3c	T	C	7: 106,525,800 (GRCm39)	I289V	possibly damaging	Het
Plcxd3	T	C	15: 4,546,725 (GRCm39)	F243S	probably damaging	Het
Ppp1r27	T	C	11: 120,441,553 (GRCm39)	N76D	possibly damaging	Het
Ptprz1	A	G	6: 22,972,797 (GRCm39)	T236A	probably damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
R3hdm1	T	C	1: 128,102,975 (GRCm39)		probably benign	Het
Sall2	T	A	14: 52,552,616 (GRCm39)	Q193L	probably damaging	Het
Srpk1	T	C	17: 28,827,698 (GRCm39)	S39G	probably benign	Het
Tcaf3	A	G	6: 42,564,513 (GRCm39)	V883A	probably damaging	Het
Tmem104	T	A	11: 115,134,550 (GRCm39)	V362E	probably damaging	Het

Other mutations in Phxr2

Allele	Source	Chr	Coord	Type	Predicted Effect
R0329:Phxr2	UTSW	10	98,961,979 (GRCm39)	intron	probably benign
R0330:Phxr2	UTSW	10	98,961,979 (GRCm39)	intron	probably benign
R6225:Phxr2	UTSW	10	98,962,043 (GRCm39)	intron	probably benign
R6336:Phxr2	UTSW	10	98,961,952 (GRCm39)	intron	probably benign
R6880:Phxr2	UTSW	10	98,961,946 (GRCm39)	intron	probably benign
R7598:Phxr2	UTSW	10	98,961,941 (GRCm39)	missense	unknown
R9338:Phxr2	UTSW	10	98,962,043 (GRCm39)	intron	probably benign
R9655:Phxr2	UTSW	10	98,961,974 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTGGAGCATCCTTTGATTG -3'
(R):5'- TGGCCCATTTAGTTACACACTG -3'

Sequencing Primer
(F):5'- AGTTCTGAGTTCAAGACCAGCCTG -3'
(R):5'- GCCCATTTAGTTACACACTGCAAATC -3'

Posted On

2015-10-08