Mutagenetix > Incidental Mutation

Incidental Mutation 'R6149:Pramel29'

489063

Institutional Source

Beutler Lab

Gene Symbol

Pramel29

Ensembl Gene

ENSMUSG00000046262

Gene Name

PRAME like 29

Synonyms

C87977

MMRRC Submission

044296-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143933332-143939587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143933983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 375 (S375P)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]

AlphaFold

A2A958

Predicted Effect

probably benign
Transcript: ENSMUST00000105753

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105755
AA Change: S205P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: S205P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	52	250	9e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: S375P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: S375P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	1e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,777,211 (GRCm39)	R115S	probably benign	Het
Adgre1	A	G	17: 57,752,018 (GRCm39)	K589E	probably benign	Het
Adgrv1	A	T	13: 81,330,893 (GRCm39)	L74Q	probably damaging	Het
Avil	A	G	10: 126,842,451 (GRCm39)	I77V	probably benign	Het
Best2	T	C	8: 85,739,896 (GRCm39)	E57G	probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,516,098 (GRCm39)	I578K	probably damaging	Het
Chsy1	A	G	7: 65,775,133 (GRCm39)	Y154C	probably damaging	Het
Chuk	A	G	19: 44,090,270 (GRCm39)	V74A	probably damaging	Het
Ckb	T	C	12: 111,638,248 (GRCm39)	S49G	probably damaging	Het
Crtac1	A	G	19: 42,272,048 (GRCm39)	Y632H	unknown	Het
Ern1	C	A	11: 106,296,641 (GRCm39)	E770*	probably null	Het
Fam114a2	A	C	11: 57,378,415 (GRCm39)	V450G	probably benign	Het
Fgf15	C	T	7: 144,453,506 (GRCm39)	Q125*	probably null	Het
Frem2	A	T	3: 53,458,762 (GRCm39)	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,540,030 (GRCm39)	V296I	probably benign	Het
Gm15264	C	A	3: 94,640,736 (GRCm39)		noncoding transcript	Het
Ifi213	A	T	1: 173,421,581 (GRCm39)	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,940,472 (GRCm39)	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,530,969 (GRCm39)	Y435C	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lcor	T	A	19: 41,573,641 (GRCm39)	W799R	probably damaging	Het
Lnp1	C	T	16: 56,737,735 (GRCm39)	E118K	probably benign	Het
Lrif1	A	C	3: 106,639,643 (GRCm39)	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,765,165 (GRCm39)		probably null	Het
Lvrn	G	A	18: 47,017,499 (GRCm39)	V610I	probably benign	Het
Med1	T	C	11: 98,074,679 (GRCm39)	K67R	possibly damaging	Het
Midn	T	C	10: 79,990,291 (GRCm39)	S278P	probably damaging	Het
Nrap	A	G	19: 56,377,885 (GRCm39)	V35A	possibly damaging	Het
Nynrin	A	T	14: 56,091,780 (GRCm39)	Q32L	possibly damaging	Het
Oog1	C	T	12: 87,653,043 (GRCm39)	T113I	possibly damaging	Het
Or10ak7	A	G	4: 118,791,628 (GRCm39)	L139P	probably damaging	Het
Or10j3	G	T	1: 173,031,582 (GRCm39)	V220F	probably benign	Het
Or4x11	C	T	2: 89,867,860 (GRCm39)	A199V	probably benign	Het
Or5b21	A	T	19: 12,839,723 (GRCm39)	I195F	probably benign	Het
Or6a2	T	C	7: 106,600,807 (GRCm39)	I87V	probably benign	Het
Otogl	C	T	10: 107,717,314 (GRCm39)	V386I	probably benign	Het
Patj	A	G	4: 98,312,562 (GRCm39)	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,612,208 (GRCm39)	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,939 (GRCm39)	I699V	probably benign	Het
Pfas	A	G	11: 68,882,771 (GRCm39)	V790A	probably benign	Het
Plppr4	A	T	3: 117,116,043 (GRCm39)	C605S	probably benign	Het
Ppl	G	A	16: 4,925,460 (GRCm39)	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,586,810 (GRCm39)	K52R	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rpe65	G	A	3: 159,319,780 (GRCm39)	E217K	probably benign	Het
Rufy4	T	C	1: 74,186,892 (GRCm39)	I560T	probably benign	Het
Ryr2	T	C	13: 11,683,903 (GRCm39)	S3054G	probably benign	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Sf3b1	A	T	1: 55,046,666 (GRCm39)	W293R	probably damaging	Het
Sik1	A	T	17: 32,067,771 (GRCm39)	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,540,401 (GRCm39)	M85I	probably benign	Het
Stk36	T	C	1: 74,673,388 (GRCm39)	S1094P	probably benign	Het
Tctn1	A	T	5: 122,384,649 (GRCm39)	Y393N	probably benign	Het
Tex9	C	T	9: 72,369,282 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,899,942 (GRCm39)		probably null	Het
Tmprss7	A	T	16: 45,494,268 (GRCm39)	C412*	probably null	Het
Tpp1	T	C	7: 105,396,934 (GRCm39)	T399A	probably benign	Het
Trim25	T	A	11: 88,906,362 (GRCm39)	V387D	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vill	T	G	9: 118,887,482 (GRCm39)	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,286,054 (GRCm39)	D261G	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r111	G	A	17: 22,767,796 (GRCm39)	T567I	probably benign	Het
Vmn2r60	A	G	7: 41,786,400 (GRCm39)	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,566,613 (GRCm39)	R69*	probably null	Het

Other mutations in Pramel29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Pramel29	APN	4	143,935,045 (GRCm39)	missense	possibly damaging	0.58
IGL02950:Pramel29	APN	4	143,939,531 (GRCm39)	missense	probably benign	0.06
IGL03174:Pramel29	APN	4	143,935,000 (GRCm39)	missense	probably benign
IGL03178:Pramel29	APN	4	143,934,821 (GRCm39)	critical splice donor site	probably null
PIT4812001:Pramel29	UTSW	4	143,936,086 (GRCm39)	missense	probably benign
R0622:Pramel29	UTSW	4	143,939,583 (GRCm39)	unclassified	probably benign
R0634:Pramel29	UTSW	4	143,935,910 (GRCm39)	critical splice donor site	probably null
R1127:Pramel29	UTSW	4	143,933,694 (GRCm39)	missense	probably damaging	1.00
R1341:Pramel29	UTSW	4	143,934,129 (GRCm39)	missense	probably damaging	1.00
R1697:Pramel29	UTSW	4	143,935,162 (GRCm39)	missense	probably damaging	1.00
R1827:Pramel29	UTSW	4	143,936,180 (GRCm39)	missense	probably damaging	0.99
R1857:Pramel29	UTSW	4	143,935,091 (GRCm39)	missense	possibly damaging	0.74
R2859:Pramel29	UTSW	4	143,936,192 (GRCm39)	missense	probably benign	0.11
R4063:Pramel29	UTSW	4	143,935,265 (GRCm39)	missense	possibly damaging	0.87
R4114:Pramel29	UTSW	4	143,936,173 (GRCm39)	missense	probably damaging	1.00
R4130:Pramel29	UTSW	4	143,935,379 (GRCm39)	missense	probably damaging	0.99
R4255:Pramel29	UTSW	4	143,934,054 (GRCm39)	missense	possibly damaging	0.68
R4704:Pramel29	UTSW	4	143,935,162 (GRCm39)	missense	probably damaging	1.00
R4840:Pramel29	UTSW	4	143,935,144 (GRCm39)	missense	probably damaging	0.98
R5267:Pramel29	UTSW	4	143,939,575 (GRCm39)	unclassified	probably benign
R5670:Pramel29	UTSW	4	143,936,192 (GRCm39)	missense	probably benign	0.11
R6508:Pramel29	UTSW	4	143,934,171 (GRCm39)	nonsense	probably null
R6528:Pramel29	UTSW	4	143,935,381 (GRCm39)	missense	probably damaging	0.99
R7252:Pramel29	UTSW	4	143,939,510 (GRCm39)	missense	possibly damaging	0.95
R7564:Pramel29	UTSW	4	143,939,525 (GRCm39)	missense	probably damaging	1.00
R7704:Pramel29	UTSW	4	143,935,091 (GRCm39)	missense	possibly damaging	0.74
R8737:Pramel29	UTSW	4	143,935,192 (GRCm39)	missense	probably damaging	1.00
R9703:Pramel29	UTSW	4	143,939,510 (GRCm39)	missense	probably damaging	0.97
Z1176:Pramel29	UTSW	4	143,934,031 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGAGTATATCCAGGAGCTCAGG -3'
(R):5'- AGCCCTTGGAGACACTTTGC -3'

Sequencing Primer
(F):5'- TGTCATCATAGCACTCCAGAGGG -3'
(R):5'- CTTGGAGACACTTTGCATCAG -3'

Posted On

2017-10-10