Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Crlf2'

427838

Institutional Source

Beutler Lab

Gene Symbol

Crlf2

Ensembl Gene

ENSMUSG00000033467

Gene Name

cytokine receptor-like factor 2

Synonyms

Tslpr, Ly114, Tpte2

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

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

Stock #

R5418 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

109702575-109706859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109704899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 104 (V104A)

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: V104A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: V104A

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

noncoding transcript
Transcript: ENSMUST00000196881

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

probably benign
Transcript: ENSMUST00000200284
AA Change: V102A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: V102A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,244,738 (GRCm39)	S205P	probably damaging	Het
Abcc1	T	C	16: 14,278,996 (GRCm39)	V1102A	probably benign	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Acoxl	T	A	2: 127,719,722 (GRCm39)	M161K	probably benign	Het
Adamts4	T	A	1: 171,080,143 (GRCm39)	V35E	probably damaging	Het
Add2	A	G	6: 86,087,894 (GRCm39)	S614G	probably benign	Het
Adgrv1	T	A	13: 81,567,427 (GRCm39)	I5249L	probably benign	Het
Agps	A	G	2: 75,689,248 (GRCm39)	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,732,584 (GRCm39)		noncoding transcript	Het
Ankrd24	T	A	10: 81,480,776 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,733 (GRCm39)	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,547,027 (GRCm39)	Y232C	probably damaging	Het
Bptf	A	G	11: 107,002,120 (GRCm39)	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,064,904 (GRCm39)	V209M	probably benign	Het
Cflar	A	T	1: 58,791,810 (GRCm39)	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931 (GRCm39)		probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,281,935 (GRCm39)		probably null	Het
Dnah17	C	A	11: 117,985,810 (GRCm39)	E1422D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Efcab11	A	G	12: 99,821,877 (GRCm39)	L80S	possibly damaging	Het
Emc8	G	A	8: 121,385,342 (GRCm39)	T130M	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Erc2	A	G	14: 27,688,467 (GRCm39)	M196V	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fam120b	C	T	17: 15,622,061 (GRCm39)	T13M	probably damaging	Het
Fam234b	A	G	6: 135,203,966 (GRCm39)	K423E	probably benign	Het
Fcgbp	G	A	7: 27,784,738 (GRCm39)	G266D	probably damaging	Het
Fndc4	A	T	5: 31,451,978 (GRCm39)	S146R	probably benign	Het
Frmd3	G	A	4: 74,079,935 (GRCm39)		probably null	Het
Glrx2	C	A	1: 143,615,446 (GRCm39)	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,238,358 (GRCm39)		noncoding transcript	Het
Hc	C	T	2: 34,898,195 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,787,313 (GRCm39)	C1695R	probably damaging	Het
Hic1	A	G	11: 75,057,425 (GRCm39)		probably null	Het
Igkv4-92	A	T	6: 68,732,564 (GRCm39)	V5E	possibly damaging	Het
Irs1	G	A	1: 82,266,491 (GRCm39)	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,283 (GRCm39)	Y143*	probably null	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klra6	T	A	6: 129,990,393 (GRCm39)	L239F	probably damaging	Het
Lhx6	A	G	2: 35,977,378 (GRCm39)		probably null	Het
Lrrc34	G	A	3: 30,696,923 (GRCm39)	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,790,591 (GRCm39)	K321*	probably null	Het
Mapk14	T	C	17: 28,960,817 (GRCm39)	V196A	possibly damaging	Het
Matcap2	G	T	9: 22,343,066 (GRCm39)	R187L	probably damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Mylk	T	C	16: 34,732,600 (GRCm39)	S627P	probably benign	Het
Nbea	A	T	3: 55,553,410 (GRCm39)	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,524,035 (GRCm39)	V153A	probably damaging	Het
Or4a79	T	C	2: 89,552,343 (GRCm39)	I37M	probably benign	Het
Pax6	A	T	2: 105,521,910 (GRCm39)	D175V	probably benign	Het
Piezo1	A	G	8: 123,213,519 (GRCm39)	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,140,506 (GRCm39)	V404A	probably benign	Het
Plxnb2	A	G	15: 89,050,694 (GRCm39)	Y421H	probably benign	Het
Prkdc	T	G	16: 15,612,961 (GRCm39)	V3173G	probably benign	Het
Prss40	A	T	1: 34,599,840 (GRCm39)	I49N	probably benign	Het
Prx	T	A	7: 27,216,699 (GRCm39)	V400E	probably damaging	Het
Rbm11	A	C	16: 75,393,423 (GRCm39)	T40P	probably damaging	Het
Resf1	T	C	6: 149,227,634 (GRCm39)	Y227H	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,569,820 (GRCm39)	Y70H	probably damaging	Het
Senp6	G	A	9: 80,029,151 (GRCm39)	E505K	possibly damaging	Het
Slc25a3	T	C	10: 90,955,398 (GRCm39)	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280 (GRCm38)	S572T	probably benign	Het
Smarcal1	C	T	1: 72,638,068 (GRCm39)	P501S	probably benign	Het
Sox7	C	T	14: 64,185,396 (GRCm39)	T144M	probably benign	Het
Taar1	T	C	10: 23,797,214 (GRCm39)	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,263,517 (GRCm39)	F46L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tpcn2	C	T	7: 144,832,518 (GRCm39)	E113K	probably damaging	Het
Vmn1r232	T	A	17: 21,134,378 (GRCm39)	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,914,415 (GRCm39)	T660I	probably damaging	Het
Zdhhc3	A	G	9: 122,909,456 (GRCm39)	M234T	probably damaging	Het
Zfp960	T	A	17: 17,307,805 (GRCm39)	L173H	probably damaging	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
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
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'- TTCCGGTATCAAAGACCAACTTC -3'
(R):5'- AATTCAGATGCTCGTGGGCG -3'

Sequencing Primer
(F):5'- AACTTCCCGTCTAAGCGCCG -3'
(R):5'- GGTCCATCACTTCCCATCCAG -3'

Posted On

2016-09-01