Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:Pramel21'

679954

Institutional Source

Beutler Lab

Gene Symbol

Pramel21

Ensembl Gene

ENSMUSG00000066688

Gene Name

PRAME like 21

Synonyms

Gm13083

MMRRC Submission

068758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143341573-143345165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143343677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 326 (I326F)

Ref Sequence

ENSEMBL: ENSMUSP00000101399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105773]

AlphaFold

A2AGW5

Predicted Effect

probably benign
Transcript: ENSMUST00000105773
AA Change: I326F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: I326F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	431	7e-12	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 66,932,564 (GRCm39)	N115S	probably damaging	Het
Agbl5	T	C	5: 31,048,435 (GRCm39)	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,807,830 (GRCm39)		probably benign	Het
Ankrd27	G	A	7: 35,332,243 (GRCm39)		probably benign	Het
Brat1	T	A	5: 140,698,608 (GRCm39)	M260K	probably benign	Het
Btbd6	G	T	12: 112,940,220 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,394,248 (GRCm39)	G503S	probably benign	Het
Ces1e	C	T	8: 93,937,103 (GRCm39)	D323N	probably damaging	Het
Chrna5	T	C	9: 54,911,737 (GRCm39)	F75S	probably damaging	Het
Clmn	A	T	12: 104,747,211 (GRCm39)	S779T	probably benign	Het
Cntnap5c	T	A	17: 58,637,156 (GRCm39)	M1011K	probably benign	Het
Col11a2	A	T	17: 34,262,254 (GRCm39)	I164F	probably damaging	Het
Daw1	A	C	1: 83,183,643 (GRCm39)	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,715 (GRCm39)	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Eea1	T	G	10: 95,825,431 (GRCm39)	I42R	probably damaging	Het
Ehd4	A	T	2: 119,932,805 (GRCm39)	I207N	probably damaging	Het
F11	T	C	8: 45,701,851 (GRCm39)	T320A	probably benign	Het
Fhdc1	T	A	3: 84,352,874 (GRCm39)	M784L	probably benign	Het
Gm21411	G	A	4: 146,982,171 (GRCm39)	Q10*	probably null	Het
Gnao1	T	C	8: 94,694,687 (GRCm39)	M70T	probably benign	Het
Gtf2i	A	G	5: 134,324,389 (GRCm39)	F25S	probably damaging	Het
H2-T3	A	T	17: 36,498,252 (GRCm39)	D220E	probably damaging	Het
Hnrnpul2	T	G	19: 8,801,809 (GRCm39)	L339R	probably damaging	Het
Impg2	A	T	16: 56,072,528 (GRCm39)	D320V	probably damaging	Het
Itga2b	A	T	11: 102,351,630 (GRCm39)	L565Q	probably damaging	Het
Jph3	A	T	8: 122,457,561 (GRCm39)	Q67L	probably damaging	Het
Khnyn	T	C	14: 56,124,043 (GRCm39)	F99S	probably damaging	Het
Lhcgr	A	T	17: 89,063,030 (GRCm39)	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,508,745 (GRCm39)		probably benign	Het
Mettl13	C	T	1: 162,373,814 (GRCm39)	V95I	possibly damaging	Het
Nod2	C	T	8: 89,390,437 (GRCm39)	T226M	probably damaging	Het
Nwd2	T	C	5: 63,963,685 (GRCm39)	W1090R	probably damaging	Het
Or2y1c	A	T	11: 49,361,035 (GRCm39)	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,332,400 (GRCm39)	V481F		Het
Polr1b	T	A	2: 128,967,595 (GRCm39)	V996E	probably damaging	Het
Ppfia3	T	A	7: 44,991,141 (GRCm39)	R1027W	probably damaging	Het
Rap1gds1	T	C	3: 138,663,305 (GRCm39)	D298G	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,352,252 (GRCm39)	V353M	probably benign	Het
Setd1b	T	C	5: 123,299,114 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,646,799 (GRCm39)	V19A	probably benign	Het
Smarcal1	T	C	1: 72,624,939 (GRCm39)	S29P	possibly damaging	Het
Sntb2	T	C	8: 107,737,975 (GRCm39)	F508L	possibly damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Syt15	G	T	14: 33,948,028 (GRCm39)	R291L	probably damaging	Het
Tas2r114	T	A	6: 131,666,914 (GRCm39)	N38I	probably damaging	Het
Tg	T	A	15: 66,557,184 (GRCm39)	N948K	probably damaging	Het
Tmem115	A	G	9: 107,411,993 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,146 (GRCm39)	D175N	probably benign	Het
Txk	T	A	5: 72,858,050 (GRCm39)	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,980,013 (GRCm39)	T246K	probably damaging	Het
Wdr43	A	T	17: 71,932,461 (GRCm39)	R113S	probably benign	Het
Ybx1	T	C	4: 119,138,785 (GRCm39)	Y239C	probably damaging	Het

Other mutations in Pramel21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Pramel21	APN	4	143,341,643 (GRCm39)	missense	probably benign	0.00
IGL02390:Pramel21	APN	4	143,341,895 (GRCm39)	missense	probably benign	0.29
IGL02676:Pramel21	APN	4	143,342,667 (GRCm39)	missense	possibly damaging	0.75
IGL03381:Pramel21	APN	4	143,343,625 (GRCm39)	splice site	probably benign
IGL03410:Pramel21	APN	4	143,341,851 (GRCm39)	missense	probably benign	0.02
H8562:Pramel21	UTSW	4	143,341,920 (GRCm39)	splice site	probably benign
PIT4151001:Pramel21	UTSW	4	143,342,722 (GRCm39)	nonsense	probably null
R0157:Pramel21	UTSW	4	143,342,366 (GRCm39)	missense	probably damaging	0.98
R0352:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.92
R0494:Pramel21	UTSW	4	143,342,726 (GRCm39)	missense	probably benign	0.33
R0688:Pramel21	UTSW	4	143,343,927 (GRCm39)	missense	probably benign	0.00
R0884:Pramel21	UTSW	4	143,341,754 (GRCm39)	missense	probably benign	0.01
R1267:Pramel21	UTSW	4	143,342,304 (GRCm39)	missense	possibly damaging	0.95
R1418:Pramel21	UTSW	4	143,342,604 (GRCm39)	missense	probably benign	0.15
R1761:Pramel21	UTSW	4	143,342,438 (GRCm39)	missense	probably benign	0.00
R3148:Pramel21	UTSW	4	143,344,047 (GRCm39)	missense	probably benign	0.30
R4063:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.77
R4115:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R4760:Pramel21	UTSW	4	143,343,801 (GRCm39)	missense	probably benign	0.04
R5516:Pramel21	UTSW	4	143,342,253 (GRCm39)	missense	possibly damaging	0.49
R5603:Pramel21	UTSW	4	143,344,066 (GRCm39)	nonsense	probably null
R5724:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R5796:Pramel21	UTSW	4	143,341,778 (GRCm39)	missense	probably benign	0.12
R5879:Pramel21	UTSW	4	143,344,161 (GRCm39)	missense	possibly damaging	0.64
R6181:Pramel21	UTSW	4	143,342,828 (GRCm39)	critical splice donor site	probably null
R7155:Pramel21	UTSW	4	143,342,735 (GRCm39)	missense	probably benign	0.01
R7492:Pramel21	UTSW	4	143,342,744 (GRCm39)	missense	not run
R7913:Pramel21	UTSW	4	143,341,615 (GRCm39)	missense	possibly damaging	0.87
R7995:Pramel21	UTSW	4	143,342,570 (GRCm39)	missense	possibly damaging	0.89
R8126:Pramel21	UTSW	4	143,343,635 (GRCm39)	missense	possibly damaging	0.87
R9061:Pramel21	UTSW	4	143,342,741 (GRCm39)	missense	possibly damaging	0.94
R9095:Pramel21	UTSW	4	143,341,760 (GRCm39)	missense	probably damaging	1.00
R9170:Pramel21	UTSW	4	143,341,600 (GRCm39)	missense	possibly damaging	0.78
R9445:Pramel21	UTSW	4	143,343,795 (GRCm39)	missense	probably damaging	1.00
R9666:Pramel21	UTSW	4	143,341,699 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel21	UTSW	4	143,341,802 (GRCm39)	missense	possibly damaging	0.78
Z1177:Pramel21	UTSW	4	143,342,730 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTTGTTAGCTCCTCATCAGGG -3'
(R):5'- GAGGTCACTGATTTGCCAGTCC -3'

Sequencing Primer
(F):5'- TCATCAGGGAGCAACTTGGTC -3'
(R):5'- GATTTGCCAGTCCATGAGCATACAG -3'

Posted On

2021-08-31