Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Chpf2'

701414

Institutional Source

Beutler Lab

Gene Symbol

Chpf2

Ensembl Gene

ENSMUSG00000038181

Gene Name

chondroitin polymerizing factor 2

Synonyms

2010209O12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24791739-24799554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24794235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 135 (T135K)

Ref Sequence

ENSEMBL: ENSMUSP00000085633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030791] [ENSMUST00000088295] [ENSMUST00000121863] [ENSMUST00000195943] [ENSMUST00000197318]

AlphaFold

Q3UU43

Predicted Effect

probably benign
Transcript: ENSMUST00000030791

SMART Domains

Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
Blast:KISc	103	239	5e-41	BLAST
SWIB	259	338	3.6e-29	SMART
Blast:MYSc	420	466	1e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000088295
AA Change: T135K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: T135K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	1.7e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121863
AA Change: T135K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: T135K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	3e-176	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195943

SMART Domains

Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:KISc	74	210	2e-41	BLAST
SWIB	230	309	2.3e-31	SMART
Blast:MYSc	391	437	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000197318

SMART Domains

Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
Pfam:CHGN	1	74	7.5e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Egfl8	C	A	17: 34,833,491 (GRCm39)	A133S	probably benign	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	probably damaging	Het

Other mutations in Chpf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Chpf2	APN	5	24,797,259 (GRCm39)	missense	probably damaging	1.00
IGL02110:Chpf2	APN	5	24,796,710 (GRCm39)	missense	probably damaging	1.00
IGL02625:Chpf2	APN	5	24,796,709 (GRCm39)	nonsense	probably null
IGL02673:Chpf2	APN	5	24,796,302 (GRCm39)	missense	probably benign	0.21
Aloof	UTSW	5	24,794,646 (GRCm39)	missense	possibly damaging	0.61
sine_nobilitate	UTSW	5	24,795,310 (GRCm39)	nonsense	probably null
stuffy	UTSW	5	24,795,425 (GRCm39)	missense	probably damaging	1.00
R0545:Chpf2	UTSW	5	24,795,322 (GRCm39)	missense	possibly damaging	0.89
R0571:Chpf2	UTSW	5	24,795,425 (GRCm39)	missense	probably damaging	1.00
R0732:Chpf2	UTSW	5	24,795,419 (GRCm39)	start codon destroyed	probably null	0.94
R1196:Chpf2	UTSW	5	24,794,646 (GRCm39)	missense	possibly damaging	0.61
R2051:Chpf2	UTSW	5	24,796,274 (GRCm39)	missense	probably benign	0.00
R2057:Chpf2	UTSW	5	24,796,220 (GRCm39)	missense	probably damaging	1.00
R2147:Chpf2	UTSW	5	24,797,033 (GRCm39)	missense	probably damaging	1.00
R3719:Chpf2	UTSW	5	24,795,310 (GRCm39)	nonsense	probably null
R4168:Chpf2	UTSW	5	24,796,788 (GRCm39)	missense	possibly damaging	0.86
R4632:Chpf2	UTSW	5	24,796,829 (GRCm39)	missense	probably benign
R5278:Chpf2	UTSW	5	24,793,088 (GRCm39)	intron	probably benign
R5481:Chpf2	UTSW	5	24,794,340 (GRCm39)	missense	probably damaging	1.00
R5853:Chpf2	UTSW	5	24,797,190 (GRCm39)	missense	probably damaging	1.00
R5914:Chpf2	UTSW	5	24,797,421 (GRCm39)	unclassified	probably benign
R6010:Chpf2	UTSW	5	24,796,917 (GRCm39)	missense	probably damaging	1.00
R6340:Chpf2	UTSW	5	24,796,773 (GRCm39)	missense	probably damaging	0.98
R6463:Chpf2	UTSW	5	24,794,524 (GRCm39)	missense	probably damaging	1.00
R8012:Chpf2	UTSW	5	24,795,343 (GRCm39)	missense	probably damaging	0.98
R8506:Chpf2	UTSW	5	24,793,295 (GRCm39)	missense	probably damaging	1.00
R8748:Chpf2	UTSW	5	24,796,821 (GRCm39)	missense	probably damaging	1.00
R9354:Chpf2	UTSW	5	24,796,392 (GRCm39)	missense	probably damaging	1.00
Z1177:Chpf2	UTSW	5	24,796,517 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AATGACTCAGGAGCTGACCC -3'
(R):5'- AAGTACAGGTCTTGGTTGATGC -3'

Sequencing Primer
(F):5'- GACTCAGGAGCTGACCCCTTATC -3'
(R):5'- TTGATGCTAAGGTGACCAGC -3'

Posted On

2022-03-25