Mutagenetix > Incidental Mutation

Incidental Mutation 'R9466:Pramel1'

715157

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

PRAME like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9466 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143120998-143126730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143123799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037419]

AlphaFold

Q99MW3

Predicted Effect

probably benign
Transcript: ENSMUST00000037419
AA Change: D158G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: D158G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	203	396	1e-13	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,248,092 (GRCm38)	S397P	probably benign	Het
Arhgef28	T	A	13: 98,124,825 (GRCm39)	S486C		Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp8b2	A	T	3: 89,851,484 (GRCm39)	Y928N	probably benign	Het
Brip1	T	C	11: 86,048,584 (GRCm39)	T253A	possibly damaging	Het
Brsk2	A	T	7: 141,536,800 (GRCm39)	Y91F	probably benign	Het
C7	C	T	15: 5,044,884 (GRCm39)	V385I	probably benign	Het
Cdk5rap1	C	A	2: 154,192,756 (GRCm39)	V414F	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cyp2d26	A	T	15: 82,674,424 (GRCm39)	M486K	probably benign	Het
Dchs2	G	T	3: 83,176,564 (GRCm39)	A841S	probably damaging	Het
Dnajb1	T	G	8: 84,337,384 (GRCm39)	V320G	probably damaging	Het
Dusp10	T	C	1: 183,769,234 (GRCm39)	S67P	probably damaging	Het
Epha8	T	C	4: 136,662,414 (GRCm39)	T548A	probably benign	Het
Grhl3	A	T	4: 135,283,412 (GRCm39)	S276T	probably benign	Het
Hspd1	A	T	1: 55,119,483 (GRCm39)	N331K	probably benign	Het
Ikbke	T	A	1: 131,193,445 (GRCm39)	Q519L	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kdm4b	A	C	17: 56,696,548 (GRCm39)	E421D	probably benign	Het
Krt6b	A	T	15: 101,586,027 (GRCm39)	Y349N	probably damaging	Het
Larp1	T	C	11: 57,943,461 (GRCm39)	S845P	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nup98	G	A	7: 101,818,611 (GRCm39)	S473L	probably benign	Het
Or10w1	T	A	19: 13,631,796 (GRCm39)	M1K	probably null	Het
Or14c45	C	G	7: 86,176,080 (GRCm39)	F38L	probably benign	Het
Or8g28	T	A	9: 39,169,491 (GRCm39)	H159L	possibly damaging	Het
Ovgp1	G	A	3: 105,887,484 (GRCm39)	R265H		Het
Pgap3	C	T	11: 98,289,796 (GRCm39)	R65Q	probably benign	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Plcg1	C	A	2: 160,596,520 (GRCm39)	H680N	probably benign	Het
Pnliprp1	A	T	19: 58,723,081 (GRCm39)	D194V	probably damaging	Het
Prkd2	A	T	7: 16,589,696 (GRCm39)	H466L	probably damaging	Het
Prkd3	T	C	17: 79,264,049 (GRCm39)	I683V	probably damaging	Het
Prrc2c	A	T	1: 162,503,258 (GRCm39)	H2734Q	possibly damaging	Het
Scnn1b	A	T	7: 121,502,013 (GRCm39)	I224F	probably damaging	Het
Sis	A	T	3: 72,872,910 (GRCm39)		probably null	Het
Syt15	C	T	14: 33,942,991 (GRCm39)	L17F	probably damaging	Het
Tenm4	T	C	7: 96,199,252 (GRCm39)	F15S	possibly damaging	Het
Thsd7b	A	G	1: 130,122,866 (GRCm39)	K1495R	probably benign	Het
Ttc28	T	C	5: 111,330,895 (GRCm39)	S372P	probably damaging	Het
Vmn1r68	A	T	7: 10,261,317 (GRCm39)	Y260*	probably null	Het
Vmn1r68	A	G	7: 10,261,417 (GRCm39)	V227A	probably damaging	Het

Other mutations in Pramel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Pramel1	APN	4	143,124,126 (GRCm39)	missense	probably damaging	1.00
IGL01363:Pramel1	APN	4	143,123,955 (GRCm39)	missense	probably benign	0.00
IGL01713:Pramel1	APN	4	143,123,652 (GRCm39)	missense	probably benign	0.01
IGL02334:Pramel1	APN	4	143,124,096 (GRCm39)	missense	probably damaging	0.98
IGL02957:Pramel1	APN	4	143,124,168 (GRCm39)	missense	probably benign	0.22
P0045:Pramel1	UTSW	4	143,125,092 (GRCm39)	nonsense	probably null
PIT4431001:Pramel1	UTSW	4	143,124,960 (GRCm39)	missense	possibly damaging	0.61
R0136:Pramel1	UTSW	4	143,124,016 (GRCm39)	missense	probably damaging	1.00
R0544:Pramel1	UTSW	4	143,124,175 (GRCm39)	missense	possibly damaging	0.94
R0612:Pramel1	UTSW	4	143,124,101 (GRCm39)	missense	probably damaging	0.99
R1700:Pramel1	UTSW	4	143,124,999 (GRCm39)	missense	probably damaging	1.00
R2425:Pramel1	UTSW	4	143,125,036 (GRCm39)	missense	probably damaging	1.00
R2927:Pramel1	UTSW	4	143,125,388 (GRCm39)	missense	probably benign
R4012:Pramel1	UTSW	4	143,123,260 (GRCm39)	missense	possibly damaging	0.48
R5253:Pramel1	UTSW	4	143,125,156 (GRCm39)	missense	probably benign	0.03
R5388:Pramel1	UTSW	4	143,123,954 (GRCm39)	missense	probably benign	0.00
R6457:Pramel1	UTSW	4	143,123,275 (GRCm39)	missense	probably damaging	1.00
R7052:Pramel1	UTSW	4	143,123,074 (GRCm39)	missense	probably damaging	1.00
R7543:Pramel1	UTSW	4	143,124,993 (GRCm39)	missense	probably damaging	0.99
R7964:Pramel1	UTSW	4	143,123,810 (GRCm39)	missense	probably benign	0.03
R8532:Pramel1	UTSW	4	143,125,125 (GRCm39)	missense	probably benign	0.04
R8977:Pramel1	UTSW	4	143,123,961 (GRCm39)	missense	probably benign	0.08
R9264:Pramel1	UTSW	4	143,125,099 (GRCm39)	missense	probably damaging	1.00
R9284:Pramel1	UTSW	4	143,123,769 (GRCm39)	missense	probably benign	0.43
R9769:Pramel1	UTSW	4	143,125,110 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TCTGTTTCACCCACAGCAGG -3'
(R):5'- CTCATGCGACCCAAGTAAGG -3'

Sequencing Primer
(F):5'- CACAGCAGGTGCAAGCTG -3'
(R):5'- TTAAGCAGGCAGACAGGATTAC -3'

Posted On

2022-06-15