Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Pramel11'

698030

Institutional Source

Beutler Lab

Gene Symbol

Pramel11

Ensembl Gene

ENSMUSG00000078512

Gene Name

PRAME like 11

Synonyms

Gm13099, Pramef6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143620807-143626950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143623646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 176 (N176I)

Ref Sequence

ENSEMBL: ENSMUSP00000101393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000105767]

AlphaFold

A2A8M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081645
AA Change: N176I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: N176I

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	6e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105767
AA Change: N176I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: N176I

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	1e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts9	A	T	6: 92,837,170 (GRCm39)	S1164T	probably benign	Het
Bcat1	A	T	6: 144,985,222 (GRCm39)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,957,129 (GRCm39)	T2832A	probably benign	Het
Brca2	A	T	5: 150,459,977 (GRCm39)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,831,268 (GRCm39)	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpf	G	T	1: 189,388,987 (GRCm39)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,830,354 (GRCm39)		probably null	Het
Clec4d	T	C	6: 123,251,757 (GRCm39)	F213S	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,962,430 (GRCm39)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,687,612 (GRCm39)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Dld	A	G	12: 31,390,885 (GRCm39)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,655,477 (GRCm39)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,846,570 (GRCm39)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,553,303 (GRCm39)		probably null	Het
Fgl2	A	C	5: 21,577,920 (GRCm39)	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 85,560,780 (GRCm39)	I132F	probably damaging	Het
Gm15446	T	C	5: 110,090,743 (GRCm39)	C332R	probably damaging	Het
Gm15737	A	T	6: 92,856,640 (GRCm39)	E23V	unknown	Het
Gm5111	A	G	6: 48,567,037 (GRCm39)	H84R	unknown	Het
Golga3	G	A	5: 110,355,619 (GRCm39)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,678,919 (GRCm39)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,005,621 (GRCm39)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ints7	T	A	1: 191,351,872 (GRCm39)	S860R	probably benign	Het
Lipi	T	A	16: 75,362,461 (GRCm39)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,791,722 (GRCm39)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,938,854 (GRCm39)	D242G	probably benign	Het
Map1a	A	T	2: 121,133,854 (GRCm39)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,924 (GRCm39)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,198,544 (GRCm39)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,640,041 (GRCm39)	R124G	probably benign	Het
Ngef	T	A	1: 87,406,797 (GRCm39)	H240L	unknown	Het
Nmur1	T	G	1: 86,315,256 (GRCm39)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,859,955 (GRCm39)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,232,850 (GRCm39)		probably null	Het
Or4k1	A	T	14: 50,377,990 (GRCm39)	Y35*	probably null	Het
Or52ac1	T	A	7: 104,245,635 (GRCm39)	Y251F	probably damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Osbpl10	G	A	9: 115,061,211 (GRCm39)	W588*	probably null	Het
Pask	A	T	1: 93,265,205 (GRCm39)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,491,084 (GRCm39)	R170K	probably damaging	Het
Plec	A	G	15: 76,069,937 (GRCm39)	C960R	unknown	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,524,163 (GRCm39)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,883,552 (GRCm39)	E76V	probably damaging	Het
Rock2	A	G	12: 17,015,557 (GRCm39)	N818S	probably benign	Het
Ryk	A	T	9: 102,758,854 (GRCm39)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,378,168 (GRCm39)	Q661R	possibly damaging	Het
Siae	T	C	9: 37,539,105 (GRCm39)	V172A	probably benign	Het
Slc35f4	A	G	14: 49,556,377 (GRCm39)	S9P	unknown	Het
Smg1	T	C	7: 117,795,179 (GRCm39)	E456G	unknown	Het
Srgap3	C	T	6: 112,743,865 (GRCm39)	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,093,799 (GRCm39)	R564S	probably damaging	Het
Usp15	A	G	10: 123,004,143 (GRCm39)	Y204H	probably damaging	Het
Usp35	A	G	7: 96,962,276 (GRCm39)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,600,524 (GRCm39)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,518,987 (GRCm39)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,080,689 (GRCm39)		probably null	Het
Zscan22	G	T	7: 12,641,130 (GRCm39)	R458L	probably damaging	Het

Other mutations in Pramel11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Pramel11	APN	4	143,622,201 (GRCm39)	missense	probably benign
IGL01917:Pramel11	APN	4	143,624,284 (GRCm39)	missense	probably benign	0.15
IGL02222:Pramel11	APN	4	143,622,416 (GRCm39)	missense	possibly damaging	0.94
IGL02315:Pramel11	APN	4	143,624,498 (GRCm39)	start gained	probably benign
R0488:Pramel11	UTSW	4	143,621,973 (GRCm39)	missense	probably benign	0.00
R0755:Pramel11	UTSW	4	143,624,299 (GRCm39)	missense	probably damaging	0.96
R0972:Pramel11	UTSW	4	143,623,533 (GRCm39)	missense	probably benign	0.02
R1444:Pramel11	UTSW	4	143,623,461 (GRCm39)	missense	probably benign	0.01
R1551:Pramel11	UTSW	4	143,622,263 (GRCm39)	missense	probably benign	0.00
R1907:Pramel11	UTSW	4	143,622,061 (GRCm39)	missense	possibly damaging	0.89
R2068:Pramel11	UTSW	4	143,623,482 (GRCm39)	missense	probably damaging	1.00
R2182:Pramel11	UTSW	4	143,623,760 (GRCm39)	missense	possibly damaging	0.60
R2246:Pramel11	UTSW	4	143,623,790 (GRCm39)	missense	probably benign	0.19
R4483:Pramel11	UTSW	4	143,622,410 (GRCm39)	missense	probably damaging	1.00
R5123:Pramel11	UTSW	4	143,623,706 (GRCm39)	missense	probably benign	0.00
R5291:Pramel11	UTSW	4	143,622,237 (GRCm39)	missense	probably damaging	1.00
R5643:Pramel11	UTSW	4	143,622,337 (GRCm39)	missense	probably damaging	0.98
R5683:Pramel11	UTSW	4	143,622,423 (GRCm39)	missense	probably damaging	1.00
R5836:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5837:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5838:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5853:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R6340:Pramel11	UTSW	4	143,623,877 (GRCm39)	missense	possibly damaging	0.69
R6572:Pramel11	UTSW	4	143,621,943 (GRCm39)	missense	possibly damaging	0.79
R6791:Pramel11	UTSW	4	143,622,252 (GRCm39)	missense	probably benign	0.02
R6972:Pramel11	UTSW	4	143,623,472 (GRCm39)	missense	probably damaging	1.00
R7265:Pramel11	UTSW	4	143,621,991 (GRCm39)	missense	probably benign	0.00
R7307:Pramel11	UTSW	4	143,623,345 (GRCm39)	nonsense	probably null
R7342:Pramel11	UTSW	4	143,623,520 (GRCm39)	missense	probably benign	0.26
R7361:Pramel11	UTSW	4	143,622,456 (GRCm39)	missense	possibly damaging	0.88
R7480:Pramel11	UTSW	4	143,622,065 (GRCm39)	missense	probably benign
R7685:Pramel11	UTSW	4	143,624,371 (GRCm39)	missense	probably benign	0.28
R7861:Pramel11	UTSW	4	143,624,288 (GRCm39)	missense	possibly damaging	0.75
R8699:Pramel11	UTSW	4	143,623,762 (GRCm39)	missense	probably benign	0.31
R8981:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9100:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9101:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9103:Pramel11	UTSW	4	143,624,381 (GRCm39)	missense	probably damaging	1.00
R9112:Pramel11	UTSW	4	143,623,334 (GRCm39)	missense	possibly damaging	0.77
R9202:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9203:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9473:Pramel11	UTSW	4	143,620,815 (GRCm39)	missense	probably benign	0.00
R9646:Pramel11	UTSW	4	143,623,634 (GRCm39)	missense	probably damaging	1.00
Z1176:Pramel11	UTSW	4	143,622,254 (GRCm39)	missense	probably damaging	1.00
Z1177:Pramel11	UTSW	4	143,623,769 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TCCCAAGGTATGCAGATTTCC -3'
(R):5'- TGATTTACGAGATGCCCACC -3'

Sequencing Primer
(F):5'- CAAGGTATGCAGATTTCCTTGAAAAG -3'
(R):5'- AGATGCCCACCAGGACTTCTG -3'

Posted On

2022-02-07