Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Crlf2'

576665

Institutional Source

Beutler Lab

Gene Symbol

Crlf2

Ensembl Gene

ENSMUSG00000033467

Gene Name

cytokine receptor-like factor 2

Synonyms

Tslpr, Ly114, Tpte2

MMRRC Submission

045513-MU

Accession Numbers

Essential gene?

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

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109702575-109706859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109702839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 318 (D318G)

Ref Sequence

ENSEMBL: ENSMUSP00000036326 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044579
AA Change: D318G

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: D318G

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
AA Change: D185G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142982
Gene: ENSMUSG00000033467
AA Change: D185G

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

probably benign
Transcript: ENSMUST00000200284
AA Change: D316G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: D316G

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,619,472 (GRCm39)	I1192F	probably damaging	Het
Abca8a	A	G	11: 109,941,790 (GRCm39)	S1160P	probably benign	Het
Adamtsl2	A	G	2: 26,979,721 (GRCm39)	I297V	probably damaging	Het
Aebp1	T	A	11: 5,819,757 (GRCm39)	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,314,930 (GRCm39)	T28A	probably damaging	Het
Akap3	A	T	6: 126,842,618 (GRCm39)	K412N	probably damaging	Het
Atl1	A	G	12: 69,978,396 (GRCm39)	I123V	probably benign	Het
Atp10a	G	A	7: 58,308,288 (GRCm39)	R29H	unknown	Het
C4b	T	C	17: 34,953,707 (GRCm39)	D967G	probably benign	Het
Ccdc186	T	C	19: 56,795,429 (GRCm39)	N416S	probably damaging	Het
Ccna2	T	C	3: 36,625,239 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,173,582 (GRCm39)	L371P	probably damaging	Het
Cfap46	A	T	7: 139,230,753 (GRCm39)	C958*	probably null	Het
Csf1	T	C	3: 107,658,072 (GRCm39)	N14D	probably benign	Het
Dars1	A	G	1: 128,299,941 (GRCm39)	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,389,453 (GRCm39)	E813G	probably damaging	Het
Ebi3	T	A	17: 56,261,410 (GRCm39)	M102K	probably benign	Het
Epg5	A	G	18: 78,066,493 (GRCm39)	D2131G	probably benign	Het
Fam186a	A	T	15: 99,840,775 (GRCm39)	L1823H	probably damaging	Het
H2-M3	T	C	17: 37,583,569 (GRCm39)	M309T	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ino80	A	G	2: 119,273,067 (GRCm39)	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,184,417 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,404,687 (GRCm39)	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,488,959 (GRCm39)	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,712,657 (GRCm39)	Y3226N		Het
Lrp1b	G	T	2: 40,712,658 (GRCm39)	D3225E		Het
Megf10	G	C	18: 57,395,203 (GRCm39)	G522R	probably damaging	Het
Nectin2	A	T	7: 19,483,193 (GRCm39)	L12*	probably null	Het
Ngef	A	T	1: 87,408,327 (GRCm39)	M580K	probably damaging	Het
Oga	A	T	19: 45,767,046 (GRCm39)	M110K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,687 (GRCm39)	M205V	probably benign	Het
Or1e1c	A	G	11: 73,265,844 (GRCm39)	S93G	probably benign	Het
Or5an1b	T	C	19: 12,299,472 (GRCm39)	N240D	probably damaging	Het
Pcdhb13	T	C	18: 37,577,728 (GRCm39)	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,619,145 (GRCm39)	I312V	probably benign	Het
Pglyrp3	A	G	3: 91,937,985 (GRCm39)	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,757,421 (GRCm39)	V1539A	probably damaging	Het
Prxl2b	C	A	4: 154,981,053 (GRCm39)	C194F	possibly damaging	Het
Rcn2	T	C	9: 55,965,353 (GRCm39)	L274P	probably damaging	Het
Rpp30	A	G	19: 36,081,838 (GRCm39)	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,289,230 (GRCm39)	M134V	probably damaging	Het
Samd3	A	T	10: 26,146,004 (GRCm39)	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,444 (GRCm39)	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,110,994 (GRCm39)	L604P	probably benign	Het
Strn3	A	T	12: 51,656,946 (GRCm39)	H777Q	probably damaging	Het
Tap1	G	A	17: 34,409,616 (GRCm39)	W284*	probably null	Het
Tlcd5	C	T	9: 43,023,080 (GRCm39)	W91*	probably null	Het
Tmem181a	A	G	17: 6,353,540 (GRCm39)	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,713,368 (GRCm39)	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,560 (GRCm39)	V19M	probably benign	Het
Zfp932	T	A	5: 110,157,880 (GRCm39)	M526K	probably benign	Het
Zfp959	G	T	17: 56,205,334 (GRCm39)	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,346,863 (GRCm39)	S300P	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
R6848:Crlf2	UTSW	5	109,704,897 (GRCm39)	missense	possibly damaging	0.66
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'- GTGACCTCAGCCTGAAGTATAG -3'
(R):5'- ATCACGGGAACTTCCAGGTG -3'

Sequencing Primer
(F):5'- CTCAGCCTGAAGTATAGACTGGC -3'
(R):5'- TCACTTCCTGTCCCCGGAGAG -3'

Posted On

2019-10-07