Mutagenetix > Incidental Mutation

Incidental Mutation 'R9501:Rftn2'

717540

Institutional Source

Beutler Lab

Gene Symbol

Rftn2

Ensembl Gene

ENSMUSG00000025978

Gene Name

raftlin family member 2

Synonyms

3222401M22Rik, 2700010E02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55209318-55265941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55241355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 315 (F315S)

Ref Sequence

ENSEMBL: ENSMUSP00000110071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000114428] [ENSMUST00000132055]

AlphaFold

Q8CHX7

Predicted Effect

probably benign
Transcript: ENSMUST00000027121

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	439	2e-180	PFAM
low complexity region	467	478	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114428
AA Change: F315S

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

SMART Domains

Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: F315S

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	319	8.4e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132055

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,214,853 (GRCm39)	V439D	probably damaging	Het
Abcf3	T	C	16: 20,379,125 (GRCm39)	S664P	probably damaging	Het
Anp32a	A	G	9: 62,282,019 (GRCm39)	S202G	unknown	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
AU040320	A	G	4: 126,735,032 (GRCm39)	K782R	probably benign	Het
Bach1	A	G	16: 87,515,999 (GRCm39)	Q180R	probably benign	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Chd2	T	C	7: 73,091,481 (GRCm39)	S1587G	possibly damaging	Het
Chd2	A	T	7: 73,130,294 (GRCm39)	I787N	probably damaging	Het
Chd8	T	A	14: 52,452,045 (GRCm39)	I1317L	probably benign	Het
Clca3a2	C	A	3: 144,777,322 (GRCm39)	E850*	probably null	Het
Clpb	G	A	7: 101,427,780 (GRCm39)	G375D	probably damaging	Het
Cobl	T	A	11: 12,328,235 (GRCm39)	I124F	possibly damaging	Het
Cope	A	G	8: 70,765,363 (GRCm39)	N271S	probably benign	Het
Cyp11b2	T	C	15: 74,722,961 (GRCm39)	D479G	probably damaging	Het
Dennd3	T	A	15: 73,419,041 (GRCm39)	C611S	probably benign	Het
Drosha	G	T	15: 12,928,992 (GRCm39)	V1299L	probably damaging	Het
Dst	A	G	1: 34,227,849 (GRCm39)	Y1814C	probably damaging	Het
Fbn2	A	G	18: 58,209,130 (GRCm39)	C1082R	probably damaging	Het
Fbxw22	A	T	9: 109,207,920 (GRCm39)	N450K	probably benign	Het
Hmcn1	T	A	1: 150,470,990 (GRCm39)	I4925F	possibly damaging	Het
Iho1	A	T	9: 108,282,500 (GRCm39)	V396E	probably benign	Het
Kin	G	T	2: 10,085,478 (GRCm39)	A13S	probably benign	Het
Lrp1b	G	A	2: 41,172,247 (GRCm39)	R1581C		Het
Myl2	T	C	5: 122,241,921 (GRCm39)	I66T	probably benign	Het
Npy5r	A	G	8: 67,134,137 (GRCm39)	C219R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oosp1	A	T	19: 11,664,757 (GRCm39)	Y100N	probably damaging	Het
Pdk4	A	G	6: 5,491,084 (GRCm39)	L227P	probably damaging	Het
Perm1	A	T	4: 156,302,177 (GRCm39)	E240D	probably benign	Het
Pi4ka	A	G	16: 17,204,156 (GRCm39)	L46P		Het
Pik3ca	A	G	3: 32,504,062 (GRCm39)	Y584C	probably damaging	Het
Prnp	T	C	2: 131,779,037 (GRCm39)	S230P	probably benign	Het
Rp1l1	A	G	14: 64,266,039 (GRCm39)	R542G	probably benign	Het
Scn7a	T	C	2: 66,582,579 (GRCm39)	N106S	probably benign	Het
Sec24a	A	T	11: 51,603,122 (GRCm39)	N775K	probably damaging	Het
Slc13a2	G	A	11: 78,291,633 (GRCm39)	T340M	probably damaging	Het
Slc5a3	A	G	16: 91,875,257 (GRCm39)	Y438C	probably damaging	Het
Smarca2	A	G	19: 26,617,977 (GRCm39)	Q336R	probably benign	Het
Snx7	A	G	3: 117,632,611 (GRCm39)	V160A	possibly damaging	Het
Stim1	A	T	7: 102,060,506 (GRCm39)	D183V	possibly damaging	Het
Strn3	A	T	12: 51,696,956 (GRCm39)	D258E	probably damaging	Het
Stxbp1	G	A	2: 32,692,825 (GRCm39)	A397V	probably benign	Het
Tacr3	A	G	3: 134,535,092 (GRCm39)	H20R	probably benign	Het
Tg	T	A	15: 66,718,923 (GRCm39)	D2626E	possibly damaging	Het
Tmem131	A	G	1: 36,858,265 (GRCm39)	M694T	possibly damaging	Het
Tpp1	G	A	7: 105,398,464 (GRCm39)	A284V	probably benign	Het
Trank1	A	T	9: 111,176,943 (GRCm39)	T327S	probably benign	Het
Trim14	A	G	4: 46,510,404 (GRCm39)	W274R	unknown	Het
Tshz2	A	T	2: 169,725,759 (GRCm39)	E118D	probably benign	Het
Tshz3	A	G	7: 36,470,980 (GRCm39)	T990A	probably damaging	Het
Usp40	T	C	1: 87,925,557 (GRCm39)	D224G	probably benign	Het
Vmn2r130	A	G	17: 23,282,650 (GRCm39)	Q110R	probably benign	Het
Zscan2	A	G	7: 80,525,890 (GRCm39)	K537R	probably damaging	Het

Other mutations in Rftn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Rftn2	APN	1	55,243,444 (GRCm39)	missense	probably damaging	1.00
IGL01691:Rftn2	APN	1	55,253,445 (GRCm39)	missense	probably damaging	1.00
IGL02412:Rftn2	APN	1	55,245,497 (GRCm39)	missense	probably benign	0.01
IGL02458:Rftn2	APN	1	55,250,351 (GRCm39)	nonsense	probably null
1mM(1):Rftn2	UTSW	1	55,245,754 (GRCm39)	missense	possibly damaging	0.94
R0446:Rftn2	UTSW	1	55,253,354 (GRCm39)	missense	probably damaging	0.99
R1167:Rftn2	UTSW	1	55,243,458 (GRCm39)	missense	probably damaging	1.00
R1172:Rftn2	UTSW	1	55,250,376 (GRCm39)	missense	probably damaging	0.99
R4171:Rftn2	UTSW	1	55,253,429 (GRCm39)	missense	probably damaging	1.00
R4350:Rftn2	UTSW	1	55,233,440 (GRCm39)	missense	probably damaging	1.00
R4487:Rftn2	UTSW	1	55,241,311 (GRCm39)	missense	possibly damaging	0.74
R4833:Rftn2	UTSW	1	55,253,399 (GRCm39)	missense	possibly damaging	0.56
R4863:Rftn2	UTSW	1	55,211,198 (GRCm39)	missense	probably benign	0.01
R5719:Rftn2	UTSW	1	55,253,445 (GRCm39)	missense	probably damaging	1.00
R6801:Rftn2	UTSW	1	55,233,418 (GRCm39)	missense	possibly damaging	0.91
R6937:Rftn2	UTSW	1	55,233,508 (GRCm39)	critical splice acceptor site	probably null
R6939:Rftn2	UTSW	1	55,233,508 (GRCm39)	critical splice acceptor site	probably null
R7344:Rftn2	UTSW	1	55,265,311 (GRCm39)	nonsense	probably null
R7401:Rftn2	UTSW	1	55,233,401 (GRCm39)	critical splice donor site	probably null
R7517:Rftn2	UTSW	1	55,234,708 (GRCm39)	missense	probably damaging	1.00
R8512:Rftn2	UTSW	1	55,253,324 (GRCm39)	missense	probably damaging	1.00
R9207:Rftn2	UTSW	1	55,224,149 (GRCm39)	missense	probably damaging	1.00
X0022:Rftn2	UTSW	1	55,253,295 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCCAGCTGCACAAAGTGGG -3'
(R):5'- CTTTCTGCAGCTTTGAGACATTAG -3'

Sequencing Primer
(F):5'- CTGCACAAAGTGGGAGCGC -3'
(R):5'- TGCAGCTTTGAGACATTAGTGAGAAC -3'

Posted On

2022-07-18