Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Crlf2'

534854

Institutional Source

Beutler Lab

Gene Symbol

Crlf2

Ensembl Gene

ENSMUSG00000033467

Gene Name

cytokine receptor-like factor 2

Synonyms

Tslpr, Ly114, Tpte2

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R6848 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

109702575-109706859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109704897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 103 (F103V)

Ref Sequence

ENSEMBL: ENSMUSP00000143641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044579] [ENSMUST00000198960] [ENSMUST00000200284]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044579
AA Change: F105V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: F105V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	84	102	N/A	INTRINSIC
FN3	117	196	2.58e-4	SMART
low complexity region	210	253	N/A	INTRINSIC
low complexity region	335	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198960

SMART Domains

Protein: ENSMUSP00000142982
Gene: ENSMUSG00000033467

Domain	Start	End	E-Value	Type
Blast:FN3	1	52	2e-30	BLAST
SCOP:d1eerb2	1	65	7e-8	SMART
PDB:4NN7\|C	1	66	2e-41	PDB
transmembrane domain	95	117	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200284
AA Change: F103V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: F103V

Domain	Start	End	E-Value	Type
low complexity region	82	100	N/A	INTRINSIC
FN3	115	194	1.3e-6	SMART
low complexity region	208	251	N/A	INTRINSIC
low complexity region	333	345	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

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 type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are overtly normal and maintain normal lymphopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Crlf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Crlf2	APN	5	109,705,436 (GRCm39)	missense	possibly damaging	0.66
R0623:Crlf2	UTSW	5	109,705,004 (GRCm39)	missense	probably damaging	0.99
R0623:Crlf2	UTSW	5	109,705,004 (GRCm39)	missense	probably damaging	0.99
R0732:Crlf2	UTSW	5	109,705,004 (GRCm39)	missense	probably damaging	0.99
R0898:Crlf2	UTSW	5	109,705,004 (GRCm39)	missense	probably damaging	0.99
R1277:Crlf2	UTSW	5	109,705,466 (GRCm39)	missense	possibly damaging	0.46
R1674:Crlf2	UTSW	5	109,706,669 (GRCm39)	critical splice donor site	probably null
R1912:Crlf2	UTSW	5	109,705,007 (GRCm39)	missense	possibly damaging	0.83
R5276:Crlf2	UTSW	5	109,705,501 (GRCm39)	unclassified	probably benign
R5418:Crlf2	UTSW	5	109,704,899 (GRCm39)	missense	probably benign	0.05
R5984:Crlf2	UTSW	5	109,703,469 (GRCm39)	missense	probably damaging	1.00
R7437:Crlf2	UTSW	5	109,702,839 (GRCm39)	missense	probably benign	0.12
R8404:Crlf2	UTSW	5	109,704,917 (GRCm39)	missense	probably benign	0.12
R8502:Crlf2	UTSW	5	109,704,917 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ACCAACTTCCCGTCTAAGCG -3'
(R):5'- TTGAGGTGTTGAAATTCAGATGCTC -3'

Sequencing Primer
(F):5'- TCTAAGCGCCGCCCAGTTC -3'
(R):5'- AAATTCAGATGCTCGTGGGC -3'

Posted On

2018-09-12